EFEMP2 (EGF containing fibulin extracellular matrix protein 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: EFEMP2 (EGF containing fibulin extracellular matrix protein 2) Homo sapiens
Analyze
Symbol: EFEMP2
Name: EGF containing fibulin extracellular matrix protein 2
RGD ID: 1349728
HGNC Page HGNC:3219
Description: Enables heparin binding activity and protein homodimerization activity. Involved in elastic fiber assembly and positive regulation of smooth muscle cell-matrix adhesion. Located in elastic fiber. Implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Biomarker of aortic dissection; bone osteosarcoma; cervix carcinoma; endometrial cancer; and ovarian cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARCL1B; EGF containing fibulin like extracellular matrix protein 2; EGF containing fibulin-like extracellular matrix protein 2; EGF-containing fibulin-like extracellular matrix protein 2; FBLN4; FIBL-4; fibulin 4; fibulin-4; MBP1; mutant p53 binding protein 1; UPH1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381165,866,441 - 65,872,800 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1165,866,441 - 65,873,592 (-)EnsemblGRCh38hg38GRCh38
GRCh371165,633,912 - 65,640,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,390,488 - 65,396,852 (-)NCBINCBI36hg18NCBI36
Build 341165,390,494 - 65,396,793NCBI
Celera1162,957,818 - 62,964,246 (-)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1161,960,429 - 61,966,923 (-)NCBIHuRef
CHM1_11165,518,326 - 65,524,819 (-)NCBICHM1_1
T2T-CHM13v2.01165,860,912 - 65,867,272 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac ventricular function  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal systemic arterial morphology  (IAGP)
Abnormality of the cheek  (IAGP)
Abnormality of the thoracic cavity  (IAGP)
Aortic aneurysm  (IAGP)
Arachnodactyly  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bradycardia  (IAGP)
Bulbous nose  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congestive heart failure  (IAGP)
Convex nasal ridge  (IAGP)
Cutis laxa  (IAGP)
Depressed nasal bridge  (IAGP)
Dermatochalasis  (IAGP)
Dilatation of the ventricular cavity  (IAGP)
Downslanted palpebral fissures  (IAGP)
Emphysema  (IAGP)
Fragmented elastic fibers in the dermis  (IAGP)
Generalized arterial tortuosity  (IAGP)
Generalized hypotonia  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hypertelorism  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Joint laxity  (IAGP)
Joint subluxation  (IAGP)
Lack of skin elasticity  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Multiple bladder diverticula  (IAGP)
Narrow palpebral fissure  (IAGP)
Oligohydramnios  (IAGP)
Overgrowth  (IAGP)
Pathologic fracture  (IAGP)
Pectus excavatum  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pneumothorax  (IAGP)
Prominence of the premaxilla  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Pulmonary artery aneurysm  (IAGP)
Pulmonary insufficiency  (IAGP)
Pyelonephritis  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant skin  (IAGP)
Respiratory insufficiency  (IAGP)
Small bowel diverticula  (IAGP)
Soft skin  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Urethral diverticulum  (IAGP)
Vesicoureteral reflux  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. Al-Hassnan ZN, etal., Am J Cardiol. 2012 Jun 1;109(11):1677-80. doi: 10.1016/j.amjcard.2012.01.394. Epub 2012 Mar 20.
2. Fibulin-4 is associated with tumor progression and a poor prognosis in ovarian carcinomas. Chen J, etal., BMC Cancer. 2015 Mar 4;15:91. doi: 10.1186/s12885-015-1100-9.
3. Overexpression of fibulin-4 is associated with tumor progression and poor prognosis in patients with cervical carcinoma. Chen J, etal., Oncol Rep. 2014 Jun;31(6):2601-10. doi: 10.3892/or.2014.3139. Epub 2014 Apr 16.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Decreased expression of fibulin-4 in aortic wall of aortic dissection. Huawei P, etal., Vascular. 2014 Feb;22(1):35-41. doi: 10.1177/1708538112473976.
6. Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. Kappanayil M, etal., Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.
7. Fibulin-4 is a novel Wnt/β-Catenin pathway activator in human osteosarcoma. Li R and Wang L, Biochem Biophys Res Commun. 2016 Jun 10;474(4):730-735. doi: 10.1016/j.bbrc.2016.05.018. Epub 2016 May 5.
8. miR-211-5p contributes to chondrocyte differentiation by suppressing Fibulin-4 expression to play a role in osteoarthritis. Liu H and Luo J, J Biochem. 2019 Dec 1;166(6):495-502. doi: 10.1093/jb/mvz065.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Fibulin-4 is associated with prognosis of endometrial cancer patients and inhibits cancer cell invasion and metastasis via Wnt/β-catenin signaling pathway. Wang T, etal., Oncotarget. 2017 Mar 21;8(12):18991-19012. doi: 10.18632/oncotarget.15086.
14. Fibulin-4 promotes osteosarcoma invasion and metastasis by inducing epithelial to mesenchymal transition via the PI3K/Akt/mTOR pathway. Zhang D, etal., Int J Oncol. 2017 May;50(5):1513-1530. doi: 10.3892/ijo.2017.3921. Epub 2017 Mar 21.
Additional References at PubMed
PMID:10380882   PMID:10601734   PMID:10982184   PMID:11231014   PMID:12107411   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15342556   PMID:15489334   PMID:16189514   PMID:16303743  
PMID:16478991   PMID:16493080   PMID:16554811   PMID:16685658   PMID:16713569   PMID:17255108   PMID:18973305   PMID:19199708   PMID:19349279   PMID:19570982   PMID:19627254   PMID:19855011  
PMID:19953087   PMID:20389311   PMID:20588308   PMID:21078624   PMID:21163940   PMID:21563328   PMID:21653829   PMID:22070778   PMID:22506683   PMID:22829427   PMID:22919265   PMID:23088713  
PMID:23313295   PMID:23376485   PMID:23533145   PMID:23782690   PMID:24722188   PMID:24769233   PMID:24838734   PMID:24927181   PMID:25255451   PMID:25416956   PMID:25910212   PMID:26690653  
PMID:26871637   PMID:27107014   PMID:27339457   PMID:28238906   PMID:28327460   PMID:29892012   PMID:30089695   PMID:30237579   PMID:31125616   PMID:32296183   PMID:32396873   PMID:32814053  


Genomics

Comparative Map Data
EFEMP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381165,866,441 - 65,872,800 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1165,866,441 - 65,873,592 (-)EnsemblGRCh38hg38GRCh38
GRCh371165,633,912 - 65,640,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,390,488 - 65,396,852 (-)NCBINCBI36hg18NCBI36
Build 341165,390,494 - 65,396,793NCBI
Celera1162,957,818 - 62,964,246 (-)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1161,960,429 - 61,966,923 (-)NCBIHuRef
CHM1_11165,518,326 - 65,524,819 (-)NCBICHM1_1
T2T-CHM13v2.01165,860,912 - 65,867,272 (-)NCBI
Efemp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39195,523,974 - 5,532,548 (+)NCBIGRCm39mm39
GRCm39 Ensembl195,523,982 - 5,532,545 (+)Ensembl
GRCm38195,473,946 - 5,482,520 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl195,473,954 - 5,482,517 (+)EnsemblGRCm38mm10GRCm38
MGSCv37195,474,690 - 5,481,854 (+)NCBIGRCm37mm9NCBIm37
MGSCv36195,474,750 - 5,481,853 (+)NCBImm8
Celera195,346,431 - 5,353,554 (+)NCBICelera
Cytogenetic Map19ANCBI
Efemp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21202,781,692 - 202,789,784 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1202,781,665 - 202,789,414 (+)Ensembl
Rnor_6.01220,853,695 - 220,861,420 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,854,403 - 220,861,420 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,783,038 - 227,790,741 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41208,118,537 - 208,125,490 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11208,271,989 - 208,278,942 (+)NCBI
Celera1200,318,443 - 200,324,890 (+)NCBICelera
Cytogenetic Map1q43NCBI
Efemp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542219,463,987 - 19,470,605 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542219,463,090 - 19,470,605 (+)NCBIChiLan1.0ChiLan1.0
EFEMP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11164,555,877 - 64,561,950 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1164,555,877 - 64,561,950 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01161,226,755 - 61,233,181 (-)NCBIMhudiblu_PPA_v0panPan3
EFEMP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11851,389,797 - 51,396,109 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1851,389,824 - 51,396,107 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,997,510 - 50,004,619 (+)NCBI
ROS_Cfam_1.01852,427,071 - 52,434,176 (+)NCBI
ROS_Cfam_1.0 Ensembl1852,427,841 - 52,434,176 (+)Ensembl
UMICH_Zoey_3.11851,527,128 - 51,534,242 (+)NCBI
UNSW_CanFamBas_1.01851,101,501 - 51,108,618 (+)NCBI
UU_Cfam_GSD_1.01851,890,821 - 51,897,925 (+)NCBI
Efemp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049477,221,048 - 7,228,320 (+)NCBI
SpeTri2.0NW_0049365993,663,288 - 3,670,048 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFEMP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl26,450,332 - 6,463,486 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.126,455,155 - 6,463,493 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.225,559,189 - 5,567,521 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EFEMP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.118,384,212 - 8,391,501 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl18,385,020 - 8,390,889 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038105,673,390 - 105,680,538 (+)NCBIVero_WHO_p1.0
Efemp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476720,559,795 - 20,566,341 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462476720,559,801 - 20,566,326 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-18484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,633,754 - 65,633,853UniSTSGRCh37
Build 361165,390,330 - 65,390,429RGDNCBI36
Celera1162,957,660 - 62,957,759RGD
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map11q13UniSTS
HuRef1161,960,271 - 61,960,370UniSTS
GeneMap99-GB4 RH Map11247.67UniSTS
Whitehead-RH Map11335.8UniSTS
RH36142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,633,666 - 65,633,777UniSTSGRCh37
Build 361165,390,242 - 65,390,353RGDNCBI36
Celera1162,957,572 - 62,957,683RGD
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map11q13UniSTS
HuRef1161,960,183 - 61,960,294UniSTS
GeneMap99-GB4 RH Map11249.86UniSTS
NCBI RH Map11573.2UniSTS
IB1075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,633,971 - 65,634,124UniSTSGRCh37
Build 361165,390,547 - 65,390,700RGDNCBI36
Celera1162,957,877 - 62,958,030RGD
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map11q13UniSTS
HuRef1161,960,488 - 61,960,641UniSTS
GeneMap99-GB4 RH Map11242.84UniSTS
Whitehead-RH Map11328.7UniSTS
NCBI RH Map11573.2UniSTS
D11S2297E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,633,718 - 65,633,817UniSTSGRCh37
Build 361165,390,294 - 65,390,393RGDNCBI36
Celera1162,957,624 - 62,957,723RGD
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map11q13UniSTS
HuRef1161,960,235 - 61,960,334UniSTS
GeneMap99-GB4 RH Map11242.54UniSTS
NCBI RH Map11573.2UniSTS
STS-R09524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,633,946 - 65,634,172UniSTSGRCh37
Build 361165,390,522 - 65,390,748RGDNCBI36
Celera1162,957,852 - 62,958,078RGD
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map11q13UniSTS
HuRef1161,960,463 - 61,960,689UniSTS
GeneMap99-GB4 RH Map11250.74UniSTS
STS-H53813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.1UniSTS
GeneMap99-GB4 RH Map11242.84UniSTS
NCBI RH Map11573.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR346hsa-miR-346Mirtarbaseexternal_infoMicroarray//qRT-PCRFunctional MTI (Weak)16822819
MIR346hsa-miR-346Mirtarbaseexternal_infoWestern blot;OtherFunctional MTI21611196

Predicted Target Of
Summary Value
Count of predictions:6859
Count of miRNA genes:1053
Interacting mature miRNAs:1344
Transcripts:ENST00000307998, ENST00000524408, ENST00000525392, ENST00000526624, ENST00000526628, ENST00000526911, ENST00000527277, ENST00000527378, ENST00000527969, ENST00000528176, ENST00000528409, ENST00000529870, ENST00000530806, ENST00000530850, ENST00000531005, ENST00000531645, ENST00000531972, ENST00000532084, ENST00000532648, ENST00000533347
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2201 2401 1351 254 677 95 3847 1911 3570 349 1355 1417 162 1204 2522 1
Low 195 583 370 368 1193 368 500 283 144 68 90 160 11 1 266 3 2
Below cutoff 40 5 5 2 72 2 8 2 17 2 15 35 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB030655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF093119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF109121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP382163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ478413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ639195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB050184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB475347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000307998   ⟹   ENSP00000309953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,441 - 65,872,800 (-)Ensembl
RefSeq Acc Id: ENST00000524408   ⟹   ENSP00000432191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,448 - 65,867,906 (-)Ensembl
RefSeq Acc Id: ENST00000525392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,867,673 - 65,868,429 (-)Ensembl
RefSeq Acc Id: ENST00000526624   ⟹   ENSP00000435419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,870,121 - 65,872,654 (-)Ensembl
RefSeq Acc Id: ENST00000526628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,442 - 65,869,922 (-)Ensembl
RefSeq Acc Id: ENST00000526911   ⟹   ENSP00000436536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,447 - 65,868,007 (-)Ensembl
RefSeq Acc Id: ENST00000527277   ⟹   ENSP00000431305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,441 - 65,867,080 (-)Ensembl
RefSeq Acc Id: ENST00000527378   ⟹   ENSP00000435963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,870,179 - 65,873,592 (-)Ensembl
RefSeq Acc Id: ENST00000527969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,868,480 - 65,871,202 (-)Ensembl
RefSeq Acc Id: ENST00000528176   ⟹   ENSP00000434151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,447 - 65,872,743 (-)Ensembl
RefSeq Acc Id: ENST00000528409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,825 - 65,868,512 (-)Ensembl
RefSeq Acc Id: ENST00000529870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,871,416 - 65,872,772 (-)Ensembl
RefSeq Acc Id: ENST00000530806   ⟹   ENSP00000436526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,979 - 65,868,536 (-)Ensembl
RefSeq Acc Id: ENST00000530850   ⟹   ENSP00000437238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,870,216 - 65,872,740 (-)Ensembl
RefSeq Acc Id: ENST00000531005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,867,890 - 65,872,019 (-)Ensembl
RefSeq Acc Id: ENST00000531645   ⟹   ENSP00000436521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,447 - 65,868,416 (-)Ensembl
RefSeq Acc Id: ENST00000531972   ⟹   ENSP00000435295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,441 - 65,872,811 (-)Ensembl
RefSeq Acc Id: ENST00000532084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,867,886 - 65,869,512 (-)Ensembl
RefSeq Acc Id: ENST00000532648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,866,565 - 65,867,667 (-)Ensembl
RefSeq Acc Id: ENST00000533347   ⟹   ENSP00000435823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1165,869,857 - 65,872,942 (-)Ensembl
RefSeq Acc Id: NM_016938   ⟹   NP_058634
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,866,441 - 65,872,800 (-)NCBI
GRCh371165,633,912 - 65,640,405 (-)ENTREZGENE
Build 361165,390,488 - 65,396,852 (-)NCBI Archive
HuRef1161,960,429 - 61,966,923 (-)ENTREZGENE
CHM1_11165,518,326 - 65,524,819 (-)NCBI
T2T-CHM13v2.01165,860,912 - 65,867,272 (-)NCBI
Sequence:
RefSeq Acc Id: NR_037718
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,866,441 - 65,872,800 (-)NCBI
GRCh371165,633,912 - 65,640,405 (-)ENTREZGENE
HuRef1161,960,429 - 61,966,923 (-)ENTREZGENE
CHM1_11165,518,326 - 65,524,819 (-)NCBI
T2T-CHM13v2.01165,860,912 - 65,867,272 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_058634   ⟸   NM_016938
- Peptide Label: precursor
- UniProtKB: O75967 (UniProtKB/Swiss-Prot),   O95967 (UniProtKB/Swiss-Prot),   A0A024R5G1 (UniProtKB/TrEMBL),   Q9H3D5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000309953   ⟸   ENST00000307998
RefSeq Acc Id: ENSP00000436526   ⟸   ENST00000530806
RefSeq Acc Id: ENSP00000437238   ⟸   ENST00000530850
RefSeq Acc Id: ENSP00000435295   ⟸   ENST00000531972
RefSeq Acc Id: ENSP00000436521   ⟸   ENST00000531645
RefSeq Acc Id: ENSP00000435823   ⟸   ENST00000533347
RefSeq Acc Id: ENSP00000432191   ⟸   ENST00000524408
RefSeq Acc Id: ENSP00000435419   ⟸   ENST00000526624
RefSeq Acc Id: ENSP00000436536   ⟸   ENST00000526911
RefSeq Acc Id: ENSP00000435963   ⟸   ENST00000527378
RefSeq Acc Id: ENSP00000431305   ⟸   ENST00000527277
RefSeq Acc Id: ENSP00000434151   ⟸   ENST00000528176
Protein Domains
EGF-like   EGF_CA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95967-F1-model_v2 AlphaFold O95967 1-443 view protein structure

Promoters
RGD ID:6809984
Promoter ID:HG_ACW:12685
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:EFEMP2.GAPR07,   EFEMP2.IAPR07,   EFEMP2.JAPR07,   EFEMP2.MAPR07-UNSPLICED,   EFEMP2.NAPR07,   EFEMP2.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,392,771 - 65,393,271 (-)MPROMDB
RGD ID:6809983
Promoter ID:HG_ACW:12686
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:EFEMP2.KAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,393,571 - 65,394,071 (-)MPROMDB
RGD ID:6814492
Promoter ID:HG_XEF:1461
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:NM_001008587,   NM_001140059
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,395,226 - 65,396,212 (-)MPROMDB
RGD ID:6850666
Promoter ID:EP73127
Type:initiation region
Name:HS_EFEMP2
Description:EGF-containing fibulin-like extracellular matrix protein 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,396,818 - 65,396,878EPD
RGD ID:6788727
Promoter ID:HG_KWN:13367
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016938,   UC001OFZ.2,   UC001OGA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361165,396,911 - 65,397,732 (-)MPROMDB
RGD ID:7221071
Promoter ID:EPDNEW_H16282
Type:initiation region
Name:EFEMP2_2
Description:EGF containing fibulin like extracellular matrix protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16283  EPDNEW_H16284  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,871,294 - 65,871,354EPDNEW
RGD ID:7221073
Promoter ID:EPDNEW_H16283
Type:initiation region
Name:EFEMP2_1
Description:EGF containing fibulin like extracellular matrix protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16282  EPDNEW_H16284  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,872,800 - 65,872,860EPDNEW
RGD ID:7221075
Promoter ID:EPDNEW_H16284
Type:initiation region
Name:EFEMP2_3
Description:EGF containing fibulin like extracellular matrix protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16282  EPDNEW_H16283  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,873,607 - 65,873,667EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016938.5(EFEMP2):c.307G>A (p.Ala103Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000548827] Chr11:65871217 [GRCh38]
Chr11:65638688 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000546981] Chr11:65871271 [GRCh38]
Chr11:65638742 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000524850] Chr11:65872245 [GRCh38]
Chr11:65639716 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000528046]|not provided [RCV001584324] Chr11:65867038 [GRCh38]
Chr11:65634509 [GRCh37]
Chr11:11q13.1
likely benign|uncertain significance
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002060351]|not provided [RCV000543105] Chr11:65868547 [GRCh38]
Chr11:65636018 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000551111]|not provided [RCV001697002] Chr11:65867936 [GRCh38]
Chr11:65635407 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000529719] Chr11:65870158 [GRCh38]
Chr11:65637629 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032274]|Cutis laxa, autosomal recessive, type 1B [RCV000023384] Chr11:65868557 [GRCh38]
Chr11:65636028 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032266]|Cutis laxa, autosomal recessive, type 1B [RCV000033128] Chr11:65867061 [GRCh38]
Chr11:65634532 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032267] Chr11:65867024 [GRCh38]
Chr11:65634495 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032269]|Cutis laxa, autosomal recessive, type 1B [RCV000033125]|not provided [RCV000724423] Chr11:65870650 [GRCh38]
Chr11:65638121 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032270]|Cutis laxa, autosomal recessive, type 1B [RCV000033126] Chr11:65870649 [GRCh38]
Chr11:65638120 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) deletion Cutis laxa, autosomal recessive, type 1A [RCV000032271]|Cutis laxa, autosomal recessive, type 1B [RCV000033127] Chr11:65870151 [GRCh38]
Chr11:65637622 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032272]|Cutis laxa, autosomal recessive, type 1B [RCV000034873] Chr11:65869976 [GRCh38]
Chr11:65637447 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032273]|Cutis laxa, autosomal recessive, type 1B [RCV000611919]|not provided [RCV000587912]|not specified [RCV000155538] Chr11:65868582 [GRCh38]
Chr11:65636053 [GRCh37]
Chr11:11q13.1
benign
EFEMP2, 1-BP DEL, 577C deletion Autosomal recessive cutis laxa type 1B [RCV000033127] Chr11:11q13 pathogenic
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000034874] Chr11:65869905 [GRCh38]
Chr11:65637376 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032268]|Cutis laxa, autosomal recessive, type 1B [RCV000005756] Chr11:65871355 [GRCh38]
Chr11:65638826 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1A [RCV000032275]|Cutis laxa, autosomal recessive, type 1B [RCV000005757] Chr11:65868522 [GRCh38]
Chr11:65635993 [GRCh37]
Chr11:11q13.1
pathogenic|uncertain significance
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) duplication Cutis laxa, autosomal recessive, type 1A [RCV000032265]|Cutis laxa, autosomal recessive, type 1B [RCV000005758] Chr11:65867957..65867958 [GRCh38]
Chr11:65635428..65635429 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.490+23G>C single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000625038]|not provided [RCV001613410] Chr11:65870513 [GRCh38]
Chr11:65637984 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000542730] Chr11:65870617 [GRCh38]
Chr11:65638088 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.279C>T (p.Gly93=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000545484] Chr11:65871245 [GRCh38]
Chr11:65638716 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.160+8T>C single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000543648] Chr11:65871962 [GRCh38]
Chr11:65639433 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000548233]|not provided [RCV001788285] Chr11:65870604 [GRCh38]
Chr11:65638075 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001000452]|not provided [RCV000526646] Chr11:65870552 [GRCh38]
Chr11:65638023 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1170+1G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001213650] Chr11:65867860 [GRCh38]
Chr11:65635331 [GRCh37]
Chr11:11q13.1
uncertain significance
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2
pathogenic
NM_016938.5(EFEMP2):c.276C>T (p.His92=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000625315]|not provided [RCV000590770]|not specified [RCV000150612] Chr11:65871248 [GRCh38]
Chr11:65638719 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.368-11G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000320707]|not provided [RCV001711315]|not specified [RCV000155539] Chr11:65870669 [GRCh38]
Chr11:65638140 [GRCh37]
Chr11:11q13.1
benign|likely benign|uncertain significance
NM_016938.5(EFEMP2):c.608-2A>G single nucleotide variant not provided [RCV000519086] Chr11:65869978 [GRCh38]
Chr11:65637449 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1279_1289del (p.Arg427fs) deletion not provided [RCV000519163] Chr11:65866961..65866971 [GRCh38]
Chr11:65634432..65634442 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser) single nucleotide variant not provided [RCV000756064] Chr11:65870566 [GRCh38]
Chr11:65638037 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.368-4G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000547436]|not provided [RCV000589251]|not specified [RCV000219848] Chr11:65870662 [GRCh38]
Chr11:65638133 [GRCh37]
Chr11:11q13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=) single nucleotide variant not specified [RCV000604701] Chr11:65867068 [GRCh38]
Chr11:65634539 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.396C>T (p.His132=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000527848]|not specified [RCV000610777] Chr11:65870630 [GRCh38]
Chr11:65638101 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.*282C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000370364] Chr11:65866636 [GRCh38]
Chr11:65634107 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000324082] Chr11:65868397 [GRCh38]
Chr11:65635868 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000625314]|not provided [RCV001707637] Chr11:65868384 [GRCh38]
Chr11:65635855 [GRCh37]
Chr11:11q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001080329]|not provided [RCV000658599] Chr11:65868054 [GRCh38]
Chr11:65635525 [GRCh37]
Chr11:11q13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000554306]|not provided [RCV000589385] Chr11:65867062 [GRCh38]
Chr11:65634533 [GRCh37]
Chr11:11q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000873647] Chr11:65872256 [GRCh38]
Chr11:65639727 [GRCh37]
Chr11:11q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016938.5(EFEMP2):c.161-6C>G single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000281080] Chr11:65871369 [GRCh38]
Chr11:65638840 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001088860]|not provided [RCV000788132] Chr11:65868335 [GRCh38]
Chr11:65635806 [GRCh37]
Chr11:11q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000265641]|not provided [RCV000584857] Chr11:65870629 [GRCh38]
Chr11:65638100 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.*403C>G single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000395995] Chr11:65866515 [GRCh38]
Chr11:65633986 [GRCh37]
Chr11:11q13.1
benign|uncertain significance
NM_016938.5(EFEMP2):c.-58G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000508583]|not provided [RCV001597058] Chr11:65872733 [GRCh38]
Chr11:65640204 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.*115G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000312066]|not provided [RCV001560637] Chr11:65866803 [GRCh38]
Chr11:65634274 [GRCh37]
Chr11:11q13.1
likely benign|uncertain significance
NM_016938.5(EFEMP2):c.*165dup duplication Cutis laxa, recessive [RCV000396180] Chr11:65866752..65866753 [GRCh38]
Chr11:65634223..65634224 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.161-10C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001080297]|not provided [RCV000840857] Chr11:65871373 [GRCh38]
Chr11:65638844 [GRCh37]
Chr11:11q13.1
benign|likely benign|uncertain significance
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000535424]|not provided [RCV000488325]|not specified [RCV000616268] Chr11:65871247 [GRCh38]
Chr11:65638718 [GRCh37]
Chr11:11q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016938.4(EFEMP2):c.-181G>A single nucleotide variant Cutis laxa, recessive [RCV000347985] Chr11:65872856 [GRCh38]
Chr11:65640327 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.*3A>G single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000366776] Chr11:65866915 [GRCh38]
Chr11:65634386 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.-13G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000351284] Chr11:65872688 [GRCh38]
Chr11:65640159 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.*305C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000297011] Chr11:65866613 [GRCh38]
Chr11:65634084 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000372037] Chr11:65871970 [GRCh38]
Chr11:65639441 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.4(EFEMP2):c.-133_-130dupCGGG microsatellite Cutis laxa, recessive [RCV000311766] Chr11:65872804..65872805 [GRCh38]
Chr11:65640275..65640276 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.4(EFEMP2):c.-229G>C single nucleotide variant Cutis laxa, recessive [RCV000396236] Chr11:65872904 [GRCh38]
Chr11:65640375 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001493928]|not provided [RCV000537254] Chr11:65871176 [GRCh38]
Chr11:65638647 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000539556] Chr11:65867920 [GRCh38]
Chr11:65635391 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000558794] Chr11:65871178 [GRCh38]
Chr11:65638649 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000541229] Chr11:65870232 [GRCh38]
Chr11:65637703 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001851076]|not provided [RCV000440253] Chr11:65871203 [GRCh38]
Chr11:65638674 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.368-18G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002056656]|not specified [RCV000433367] Chr11:65870676 [GRCh38]
Chr11:65638147 [GRCh37]
Chr11:11q13.1
benign|likely benign
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000556972]|not provided [RCV001698359] Chr11:65871266 [GRCh38]
Chr11:65638737 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001000039]|not provided [RCV000761780] Chr11:65871991 [GRCh38]
Chr11:65639462 [GRCh37]
Chr11:11q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025128.5(MUS81):c.1065G>A (p.Arg355_Leu356=) single nucleotide variant not specified [RCV000455007] Chr11:65864502 [GRCh38]
Chr11:65631973 [GRCh37]
Chr11:11q13.1
benign
NM_025128.5(MUS81):c.1248G>T (p.Thr416_Arg417=) single nucleotide variant not specified [RCV000455656] Chr11:65864791 [GRCh38]
Chr11:65632262 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.938A>T (p.Asn313Ile) single nucleotide variant not provided [RCV000485615] Chr11:65868331 [GRCh38]
Chr11:65635802 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000531562]|not provided [RCV001556936] Chr11:65868041 [GRCh38]
Chr11:65635512 [GRCh37]
Chr11:11q13.1
benign|likely benign|uncertain significance
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001499211]|not provided [RCV000945619]|not specified [RCV000508306] Chr11:65868387 [GRCh38]
Chr11:65635858 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.490+9A>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001480905]|not provided [RCV000649950]|not specified [RCV000505949] Chr11:65870527 [GRCh38]
Chr11:65637998 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.-113C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000506816]|not provided [RCV001778984] Chr11:65872788 [GRCh38]
Chr11:65640259 [GRCh37]
Chr11:11q13.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_016938.5(EFEMP2):c.759C>G (p.Leu253=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000554598] Chr11:65868598 [GRCh38]
Chr11:65636069 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001081957]|not provided [RCV000840856] Chr11:65871992 [GRCh38]
Chr11:65639463 [GRCh37]
Chr11:11q13.1
benign|likely benign
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000539989]|not provided [RCV001697378] Chr11:65868619 [GRCh38]
Chr11:65636090 [GRCh37]
Chr11:11q13.1
benign|likely benign
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001001742]|not provided [RCV001580012] Chr11:65872328 [GRCh38]
Chr11:65639799 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.728-3C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649948]|not provided [RCV001712623] Chr11:65868632 [GRCh38]
Chr11:65636103 [GRCh37]
Chr11:11q13.1
likely benign|uncertain significance
NM_016938.5(EFEMP2):c.180C>A (p.Thr60=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000532099] Chr11:65871344 [GRCh38]
Chr11:65638815 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000533588] Chr11:65871979 [GRCh38]
Chr11:65639450 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000556089]|not provided [RCV001591263] Chr11:65870222 [GRCh38]
Chr11:65637693 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.267C>T (p.Asn89=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001467978]|not provided [RCV001707777] Chr11:65871257 [GRCh38]
Chr11:65638728 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.783G>A (p.Glu261=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000533060] Chr11:65868574 [GRCh38]
Chr11:65636045 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.595C>T (p.Arg199Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649942] Chr11:65870133 [GRCh38]
Chr11:65637604 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) duplication Cutis laxa, autosomal recessive, type 1B [RCV000649943] Chr11:65867920..65867921 [GRCh38]
Chr11:65635391..65635392 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_016938.5(EFEMP2):c.338A>G (p.Tyr113Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649944] Chr11:65871186 [GRCh38]
Chr11:65638657 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649945] Chr11:65867926 [GRCh38]
Chr11:65635397 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649946]|not provided [RCV000842557] Chr11:65867043 [GRCh38]
Chr11:65634514 [GRCh37]
Chr11:11q13.1
likely benign|uncertain significance
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649947] Chr11:65867067 [GRCh38]
Chr11:65634538 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.862G>C (p.Glu288Gln) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649949] Chr11:65868407 [GRCh38]
Chr11:65635878 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.34C>T (p.Leu12=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649951] Chr11:65872321 [GRCh38]
Chr11:65639792 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.498C>T (p.Asp166=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649952] Chr11:65870230 [GRCh38]
Chr11:65637701 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.912T>C (p.His304=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649953] Chr11:65868357 [GRCh38]
Chr11:65635828 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.741T>C (p.Cys247=) single nucleotide variant not provided [RCV000649954] Chr11:65868616 [GRCh38]
Chr11:65636087 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649955] Chr11:65867930 [GRCh38]
Chr11:65635401 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.852T>A (p.Ile284=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649956] Chr11:65868417 [GRCh38]
Chr11:65635888 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.186T>C (p.Pro62=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000649957] Chr11:65871338 [GRCh38]
Chr11:65638809 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000533911] Chr11:65871234 [GRCh38]
Chr11:65638705 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.727+11C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002064259]|not specified [RCV000611655] Chr11:65869846 [GRCh38]
Chr11:65637317 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000536337]|not provided [RCV001764598] Chr11:65868015 [GRCh38]
Chr11:65635486 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) single nucleotide variant not specified [RCV000604334] Chr11:65868342 [GRCh38]
Chr11:65635813 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.608-1G>C single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000698216] Chr11:65869977 [GRCh38]
Chr11:65637448 [GRCh37]
Chr11:11q13.1
pathogenic|likely pathogenic
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000707063]|not provided [RCV000761779] Chr11:65871176 [GRCh38]
Chr11:65638647 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000707215] Chr11:65870149 [GRCh38]
Chr11:65637620 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1234G>C (p.Val412Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000704951] Chr11:65867016 [GRCh38]
Chr11:65634487 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000707534] Chr11:65871357 [GRCh38]
Chr11:65638828 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1283C>T (p.Ala428Val) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000705800] Chr11:65866967 [GRCh38]
Chr11:65634438 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000686408] Chr11:65867016 [GRCh38]
Chr11:65634487 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1211C>T (p.Pro404Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000689043] Chr11:65867039 [GRCh38]
Chr11:65634510 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.242T>C (p.Leu81Pro) single nucleotide variant not provided [RCV000723038] Chr11:65871282 [GRCh38]
Chr11:65638753 [GRCh37]
Chr11:11q13.1
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_016938.5(EFEMP2):c.975-32C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001661270]|not provided [RCV001724379] Chr11:65868088 [GRCh38]
Chr11:65635559 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.160+121C>G single nucleotide variant not provided [RCV001545108] Chr11:65871849 [GRCh38]
Chr11:65639320 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.974+7C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001461358]|not provided [RCV000975726] Chr11:65868288 [GRCh38]
Chr11:65635759 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1056G>A (p.Ser352=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001481383]|not provided [RCV000925273] Chr11:65867975 [GRCh38]
Chr11:65635446 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.616G>A (p.Glu206Lys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001062364] Chr11:65869968 [GRCh38]
Chr11:65637439 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.541C>T (p.Pro181Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001041612] Chr11:65870187 [GRCh38]
Chr11:65637658 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.146G>C (p.Ser49Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001059289] Chr11:65871984 [GRCh38]
Chr11:65639455 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.677G>A (p.Cys226Tyr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001059902] Chr11:65869907 [GRCh38]
Chr11:65637378 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001040280]|not provided [RCV001565379] Chr11:65869956 [GRCh38]
Chr11:65637427 [GRCh37]
Chr11:11q13.1
likely benign|uncertain significance
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001057858] Chr11:65871238 [GRCh38]
Chr11:65638709 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.491-5C>G single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001060991] Chr11:65870242 [GRCh38]
Chr11:65637713 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.651C>T (p.Cys217=) single nucleotide variant not provided [RCV000963093] Chr11:65869933 [GRCh38]
Chr11:65637404 [GRCh37]
Chr11:11q13.1
likely benign
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2
pathogenic
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000873604]|not provided [RCV001566019] Chr11:65871161 [GRCh38]
Chr11:65638632 [GRCh37]
Chr11:11q13.1
likely benign|conflicting interpretations of pathogenicity
NM_016938.5(EFEMP2):c.12C>T (p.Cys4=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000909967] Chr11:65872343 [GRCh38]
Chr11:65639814 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.315C>T (p.His105=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001446158]|not provided [RCV000896850] Chr11:65871209 [GRCh38]
Chr11:65638680 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000801175]|not provided [RCV001766659] Chr11:65870174 [GRCh38]
Chr11:65637645 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1170+17C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002064391]|not provided [RCV000842318] Chr11:65867844 [GRCh38]
Chr11:65635315 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.236T>G (p.Leu79Trp) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000805109] Chr11:65871288 [GRCh38]
Chr11:65638759 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000803615] Chr11:65871244 [GRCh38]
Chr11:65638715 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.727+252A>G single nucleotide variant not provided [RCV000843651] Chr11:65869605 [GRCh38]
Chr11:65637076 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.349G>A (p.Asp117Asn) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000791919] Chr11:65871175 [GRCh38]
Chr11:65638646 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000822139]|not provided [RCV001562665] Chr11:65867966 [GRCh38]
Chr11:65635437 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.491-28_491-22del microsatellite not provided [RCV000839231] Chr11:65870259..65870265 [GRCh38]
Chr11:65637730..65637736 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001424215]|not provided [RCV000827545] Chr11:65871251 [GRCh38]
Chr11:65638722 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.111+81G>A single nucleotide variant not provided [RCV000838291] Chr11:65872163 [GRCh38]
Chr11:65639634 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.974+47G>A single nucleotide variant not provided [RCV000838326] Chr11:65868248 [GRCh38]
Chr11:65635719 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1174del (p.Ile392fs) deletion Cutis laxa, autosomal recessive, type 1B [RCV000805837] Chr11:65867076 [GRCh38]
Chr11:65634547 [GRCh37]
Chr11:11q13.1
uncertain significance
NC_000011.9:g.(?_65633902)_(66115026_?)dup duplication Cutis laxa, autosomal recessive, type 1B [RCV000798155] Chr11:65866431..66347555 [GRCh38]
Chr11:65633902..66115026 [GRCh37]
Chr11:11q13.1-13.2
uncertain significance
NC_000011.10:g.65871373G>A single nucleotide variant not provided [RCV000840857] Chr11:65638844 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001044317] Chr11:65870223 [GRCh38]
Chr11:65637694 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000811980] Chr11:65868323 [GRCh38]
Chr11:65635794 [GRCh37]
Chr11:11q13.1
uncertain significance
GRCh37/hg19 11q13.1(chr11:65529506-65649002)x3 copy number gain not provided [RCV000846037] Chr11:65529506..65649002 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000805082]|not provided [RCV001592999] Chr11:65871265 [GRCh38]
Chr11:65638736 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.756C>T (p.Tyr252=) single nucleotide variant not provided [RCV000842540] Chr11:65868601 [GRCh38]
Chr11:65636072 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.941G>A (p.Arg314His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001068454] Chr11:65868328 [GRCh38]
Chr11:65635799 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001169986] Chr11:65870545 [GRCh38]
Chr11:65638016 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.109_111+3del deletion Cutis laxa, autosomal recessive, type 1B [RCV001212965] Chr11:65872241..65872246 [GRCh38]
Chr11:65639712..65639717 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001206195] Chr11:65868408 [GRCh38]
Chr11:65635879 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001221280] Chr11:65866971 [GRCh38]
Chr11:65634442 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001106761] Chr11:65868395 [GRCh38]
Chr11:65635866 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.-10C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001103771] Chr11:65872685 [GRCh38]
Chr11:65640156 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.728-201A>G single nucleotide variant not provided [RCV001665035] Chr11:65868830 [GRCh38]
Chr11:65636301 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.490+30C>T single nucleotide variant not provided [RCV001577776] Chr11:65870506 [GRCh38]
Chr11:65637977 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.367+44C>G single nucleotide variant not provided [RCV001549375] Chr11:65871113 [GRCh38]
Chr11:65638584 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.161-13C>A single nucleotide variant not provided [RCV001555039] Chr11:65871376 [GRCh38]
Chr11:65638847 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.161-31C>T single nucleotide variant not provided [RCV001550715] Chr11:65871394 [GRCh38]
Chr11:65638865 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.161-138A>C single nucleotide variant not provided [RCV001559054] Chr11:65871501 [GRCh38]
Chr11:65638972 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.160+67G>A single nucleotide variant not provided [RCV001541472] Chr11:65871903 [GRCh38]
Chr11:65639374 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.607+10G>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001426499]|not provided [RCV000951537] Chr11:65870111 [GRCh38]
Chr11:65637582 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.570G>T (p.Pro190=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001484300]|not provided [RCV000930334] Chr11:65870158 [GRCh38]
Chr11:65637629 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.768C>T (p.Tyr256=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000938334] Chr11:65868589 [GRCh38]
Chr11:65636060 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1110C>T (p.Pro370=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001471982]|not provided [RCV000925861] Chr11:65867921 [GRCh38]
Chr11:65635392 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.531C>T (p.Cys177=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002066336]|not provided [RCV000953916] Chr11:65870197 [GRCh38]
Chr11:65637668 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.534G>C (p.Val178=) single nucleotide variant not provided [RCV000923995] Chr11:65870194 [GRCh38]
Chr11:65637665 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.864G>A (p.Glu288=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV000932068] Chr11:65868405 [GRCh38]
Chr11:65635876 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.375C>T (p.Asp125=) single nucleotide variant not provided [RCV000927177] Chr11:65870651 [GRCh38]
Chr11:65638122 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.*182A>G single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001105624] Chr11:65866736 [GRCh38]
Chr11:65634207 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001049004] Chr11:65868521 [GRCh38]
Chr11:65635992 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.851T>C (p.Ile284Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001207735] Chr11:65868418 [GRCh38]
Chr11:65635889 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001244071]|not provided [RCV001732090] Chr11:65870593 [GRCh38]
Chr11:65638064 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.209A>G (p.Lys70Arg) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001046340] Chr11:65871315 [GRCh38]
Chr11:65638786 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.939C>T (p.Asn313=) single nucleotide variant not provided [RCV001579401] Chr11:65868330 [GRCh38]
Chr11:65635801 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.*20C>T single nucleotide variant not provided [RCV001557959] Chr11:65866898 [GRCh38]
Chr11:65634369 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.-8+118C>T single nucleotide variant not provided [RCV001558292] Chr11:65872565 [GRCh38]
Chr11:65640036 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.975-25G>T single nucleotide variant not provided [RCV001596569] Chr11:65868081 [GRCh38]
Chr11:65635552 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001106762] Chr11:65869945 [GRCh38]
Chr11:65637416 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.268G>A (p.Asp90Asn) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001067055] Chr11:65871256 [GRCh38]
Chr11:65638727 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1170+235_1170+236insC insertion not provided [RCV001667400] Chr11:65867625..65867626 [GRCh38]
Chr11:65635096..65635097 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.19T>G (p.Cys7Gly) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001059899] Chr11:65872336 [GRCh38]
Chr11:65639807 [GRCh37]
Chr11:11q13.1
uncertain significance
NC_000011.10:g.(?_65871960)_(65872944_?)del deletion Cutis laxa, autosomal recessive, type 1B [RCV001032644] Chr11:65639431..65640415 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.1170+3A>G single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001054054] Chr11:65867858 [GRCh38]
Chr11:65635329 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1061G>A (p.Arg354Gln) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001040042] Chr11:65867970 [GRCh38]
Chr11:65635441 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001219308] Chr11:65870229 [GRCh38]
Chr11:65637700 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.*174G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001105625] Chr11:65866744 [GRCh38]
Chr11:65634215 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001027781] Chr11:65866939 [GRCh38]
Chr11:65634410 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.905A>G (p.Asn302Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001050684] Chr11:65868364 [GRCh38]
Chr11:65635835 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.*247A>C single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001103672] Chr11:65866671 [GRCh38]
Chr11:65634142 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001108920]|not provided [RCV001585983] Chr11:65871203 [GRCh38]
Chr11:65638674 [GRCh37]
Chr11:11q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001103770] Chr11:65872292 [GRCh38]
Chr11:65639763 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.975-15C>T single nucleotide variant not provided [RCV001579555] Chr11:65868071 [GRCh38]
Chr11:65635542 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001261982] Chr11:65870647 [GRCh38]
Chr11:65638118 [GRCh37]
Chr11:11q13.1
likely pathogenic
NM_016938.5(EFEMP2):c.1171-320G>A single nucleotide variant not provided [RCV001549401] Chr11:65867399 [GRCh38]
Chr11:65634870 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.774_776delinsTGC (p.Ile259Ala) indel Cutis laxa, autosomal recessive, type 1B [RCV001307766] Chr11:65868581..65868583 [GRCh38]
Chr11:65636052..65636054 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.7C>A (p.Pro3Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001318511] Chr11:65872348 [GRCh38]
Chr11:65639819 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001309486] Chr11:65870201 [GRCh38]
Chr11:65637672 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1156G>C (p.Asp386His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001304170] Chr11:65867875 [GRCh38]
Chr11:65635346 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1110C>A (p.Pro370=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001349671] Chr11:65867921 [GRCh38]
Chr11:65635392 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.475G>A (p.Gly159Arg) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001304702] Chr11:65870551 [GRCh38]
Chr11:65638022 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.855T>C (p.Asp285=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001433865] Chr11:65868414 [GRCh38]
Chr11:65635885 [GRCh37]
Chr11:11q13.1
likely benign
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance
NM_016938.5(EFEMP2):c.437_439del (p.Ser146del) deletion Cutis laxa, autosomal recessive, type 1B [RCV001369185] Chr11:65870587..65870589 [GRCh38]
Chr11:65638058..65638060 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs) duplication Cutis laxa, autosomal recessive, type 1B [RCV001382781] Chr11:65868316..65868317 [GRCh38]
Chr11:65635787..65635788 [GRCh37]
Chr11:11q13.1
pathogenic
NM_016938.5(EFEMP2):c.183C>T (p.Ile61=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001433766] Chr11:65871341 [GRCh38]
Chr11:65638812 [GRCh37]
Chr11:11q13.1
likely benign
NC_000011.9:g.(?_65633902)_(66115026_?)dup duplication Autosomal recessive cutis laxa type 1B [RCV001305354] Chr11:65633902..66115026 [GRCh37]
Chr11:11q13.1-13.2
uncertain significance
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001364801] Chr11:65871972 [GRCh38]
Chr11:65639443 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001345848] Chr11:65867994 [GRCh38]
Chr11:65635465 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001315810] Chr11:65867030 [GRCh38]
Chr11:65634501 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001345982]|not provided [RCV001586138] Chr11:65868347 [GRCh38]
Chr11:65635818 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001322068] Chr11:65866944 [GRCh38]
Chr11:65634415 [GRCh37]
Chr11:11q13.1
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001317988] Chr11:65868042 [GRCh38]
Chr11:65635513 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.296C>T (p.Pro99Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001352558] Chr11:65871228 [GRCh38]
Chr11:65638699 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001345592] Chr11:65868341 [GRCh38]
Chr11:65635812 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.248G>A (p.Arg83His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001339643] Chr11:65871276 [GRCh38]
Chr11:65638747 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001296107] Chr11:65871309 [GRCh38]
Chr11:65638780 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001338326] Chr11:65870171 [GRCh38]
Chr11:65637642 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.164T>A (p.Val55Asp) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001361087] Chr11:65871360 [GRCh38]
Chr11:65638831 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001313543] Chr11:65872259 [GRCh38]
Chr11:65639730 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.52C>T (p.Leu18=) single nucleotide variant not provided [RCV001310606] Chr11:65872303 [GRCh38]
Chr11:65639774 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1217C>T (p.Thr406Met) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001317566] Chr11:65867033 [GRCh38]
Chr11:65634504 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001365943] Chr11:65868397 [GRCh38]
Chr11:65635868 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.6C>A (p.Leu2=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001486887] Chr11:65872349 [GRCh38]
Chr11:65639820 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001471000]|not provided [RCV001547159] Chr11:65867047 [GRCh38]
Chr11:65634518 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001518831] Chr11:65869870 [GRCh38]
Chr11:65637341 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.657C>T (p.Asn219=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001464507] Chr11:65869927 [GRCh38]
Chr11:65637398 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val) inversion Cutis laxa, autosomal recessive, type 1B [RCV001409631] Chr11:65868582..65868583 [GRCh38]
Chr11:65636053..65636054 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001439875] Chr11:65871293 [GRCh38]
Chr11:65638764 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.258C>G (p.Ala86=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001399726] Chr11:65871266 [GRCh38]
Chr11:65638737 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.112-4C>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001425575] Chr11:65872022 [GRCh38]
Chr11:65639493 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.490+8C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001408394] Chr11:65870528 [GRCh38]
Chr11:65637999 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.727+324TCT[2] microsatellite not provided [RCV001538140] Chr11:65869525..65869527 [GRCh38]
Chr11:65636996..65636998 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.491-65C>T single nucleotide variant not provided [RCV001591565] Chr11:65870302 [GRCh38]
Chr11:65637773 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.727+55T>C single nucleotide variant not provided [RCV001643934] Chr11:65869802 [GRCh38]
Chr11:65637273 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.234C>T (p.Tyr78=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001500872] Chr11:65871290 [GRCh38]
Chr11:65638761 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.728-336A>G single nucleotide variant not provided [RCV001589984] Chr11:65868965 [GRCh38]
Chr11:65636436 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1171-213G>C single nucleotide variant not provided [RCV001682605] Chr11:65867292 [GRCh38]
Chr11:65634763 [GRCh37]
Chr11:11q13.1
benign
NM_016938.5(EFEMP2):c.491-138G>A single nucleotide variant not provided [RCV001583553] Chr11:65870375 [GRCh38]
Chr11:65637846 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.873G>A (p.Ala291=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001503175] Chr11:65868396 [GRCh38]
Chr11:65635867 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.699G>A (p.Glu233=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001477081] Chr11:65869885 [GRCh38]
Chr11:65637356 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.368-5C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001498868] Chr11:65870663 [GRCh38]
Chr11:65638134 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.615C>T (p.Asn205=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001461285] Chr11:65869969 [GRCh38]
Chr11:65637440 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.54A>G (p.Leu18=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001462415] Chr11:65872301 [GRCh38]
Chr11:65639772 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002032862]|not provided [RCV001772388] Chr11:65869860 [GRCh38]
Chr11:65637331 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.157C>G (p.Arg53Gly) single nucleotide variant not provided [RCV001765297] Chr11:65871973 [GRCh38]
Chr11:65639444 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002034617]|not provided [RCV001786115] Chr11:65870163 [GRCh38]
Chr11:65637634 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.989C>G (p.Pro330Arg) single nucleotide variant not provided [RCV001767476] Chr11:65868042 [GRCh38]
Chr11:65635513 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001868514]|not provided [RCV001752506] Chr11:65868566 [GRCh38]
Chr11:65636037 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.770G>A (p.Arg257His) single nucleotide variant not provided [RCV001774339] Chr11:65868587 [GRCh38]
Chr11:65636058 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.595C>A (p.Arg199Ser) single nucleotide variant not provided [RCV001758606] Chr11:65870133 [GRCh38]
Chr11:65637604 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.80C>T (p.Pro27Leu) single nucleotide variant not provided [RCV001757113] Chr11:65872275 [GRCh38]
Chr11:65639746 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001802390] Chr11:65871973 [GRCh38]
Chr11:65639444 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.355G>A (p.Asp119Asn) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002025848] Chr11:65871169 [GRCh38]
Chr11:65638640 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001986181] Chr11:65870235 [GRCh38]
Chr11:65637706 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001986827] Chr11:65868338 [GRCh38]
Chr11:65635809 [GRCh37]
Chr11:11q13.1
uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514) copy number loss not specified [RCV002052930] Chr11:64935724..66405514 [GRCh37]
Chr11:11q13.1-13.2
uncertain significance
NM_016938.5(EFEMP2):c.32C>G (p.Ser11Cys) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001965334] Chr11:65872323 [GRCh38]
Chr11:65639794 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.97C>G (p.Pro33Ala) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001910281] Chr11:65872258 [GRCh38]
Chr11:65639729 [GRCh37]
Chr11:11q13.1
uncertain significance
NC_000011.9:g.(?_64522783)_(66283694_?)del deletion Bardet-Biedl syndrome [RCV002014493]|Glycogen storage disease, type V [RCV002004587] Chr11:64522783..66283694 [GRCh37]
Chr11:11q13.1-13.2
pathogenic
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001969394] Chr11:65868021 [GRCh38]
Chr11:65635492 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001910547] Chr11:65867937 [GRCh38]
Chr11:65635408 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.404G>A (p.Arg135His) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001982783] Chr11:65870622 [GRCh38]
Chr11:65638093 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1234G>A (p.Val412Met) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002029321] Chr11:65867016 [GRCh38]
Chr11:65634487 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002012733] Chr11:65867025 [GRCh38]
Chr11:65634496 [GRCh37]
Chr11:11q13.1
uncertain significance
NC_000011.9:g.(?_65634389)_(65639825_?)dup duplication Cutis laxa, autosomal recessive, type 1B [RCV001982338] Chr11:65634389..65639825 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001897105] Chr11:65868305 [GRCh38]
Chr11:65635776 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.111+4_111+12del deletion Cutis laxa, autosomal recessive, type 1B [RCV001955063] Chr11:65872232..65872240 [GRCh38]
Chr11:65639703..65639711 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.626T>C (p.Met209Thr) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002033992] Chr11:65869958 [GRCh38]
Chr11:65637429 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.304C>T (p.Pro102Ser) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001960474] Chr11:65871220 [GRCh38]
Chr11:65638691 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.160+17G>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001877352] Chr11:65871953 [GRCh38]
Chr11:65639424 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV001992115] Chr11:65867067 [GRCh38]
Chr11:65634538 [GRCh37]
Chr11:11q13.1
uncertain significance
NM_016938.5(EFEMP2):c.848-11C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002073479] Chr11:65868432 [GRCh38]
Chr11:65635903 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002106482] Chr11:65868028 [GRCh38]
Chr11:65635499 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.618G>A (p.Glu206=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002148301] Chr11:65869966 [GRCh38]
Chr11:65637437 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.975-11G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002127778] Chr11:65868067 [GRCh38]
Chr11:65635538 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.847+13C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002108163] Chr11:65868497 [GRCh38]
Chr11:65635968 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.345C>T (p.Pro115=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002109493] Chr11:65871179 [GRCh38]
Chr11:65638650 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002105788] Chr11:65867954 [GRCh38]
Chr11:65635425 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002084515] Chr11:65866945 [GRCh38]
Chr11:65634416 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.847+20G>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002111766] Chr11:65868490 [GRCh38]
Chr11:65635961 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.252C>T (p.Ser84=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002093717] Chr11:65871272 [GRCh38]
Chr11:65638743 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.600C>A (p.Ser200=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002113819] Chr11:65870128 [GRCh38]
Chr11:65637599 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002079462] Chr11:65867029 [GRCh38]
Chr11:65634500 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1171-19C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002134218] Chr11:65867098 [GRCh38]
Chr11:65634569 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.538C>T (p.Leu180=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002191596] Chr11:65870190 [GRCh38]
Chr11:65637661 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002148225] Chr11:65868020 [GRCh38]
Chr11:65635491 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.160+20C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002094635] Chr11:65871950 [GRCh38]
Chr11:65639421 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.368-13del deletion Cutis laxa, autosomal recessive, type 1B [RCV002150305] Chr11:65870671 [GRCh38]
Chr11:65638142 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.168C>T (p.Asn56=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002103458] Chr11:65871356 [GRCh38]
Chr11:65638827 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002141989] Chr11:65866945 [GRCh38]
Chr11:65634416 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.423T>C (p.His141=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002143161] Chr11:65870603 [GRCh38]
Chr11:65638074 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.728-11T>C single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002160539] Chr11:65868640 [GRCh38]
Chr11:65636111 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.974+12C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002137282] Chr11:65868283 [GRCh38]
Chr11:65635754 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.111+17C>G single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002177230] Chr11:65872227 [GRCh38]
Chr11:65639698 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002179195] Chr11:65868017 [GRCh38]
Chr11:65635488 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.607+18C>A single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002103630] Chr11:65870103 [GRCh38]
Chr11:65637574 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002119786] Chr11:65868005 [GRCh38]
Chr11:65635476 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1170+13C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002102371] Chr11:65867848 [GRCh38]
Chr11:65635319 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=) single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002137957] Chr11:65867870 [GRCh38]
Chr11:65635341 [GRCh37]
Chr11:11q13.1
likely benign
NM_016938.5(EFEMP2):c.848-16C>T single nucleotide variant Cutis laxa, autosomal recessive, type 1B [RCV002120965] Chr11:65868437 [GRCh38]
Chr11:65635908 [GRCh37]
Chr11:11q13.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3219 AgrOrtholog
COSMIC EFEMP2 COSMIC
Ensembl Genes ENSG00000172638 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000309953 ENTREZGENE
  ENSP00000309953.6 UniProtKB/Swiss-Prot
  ENSP00000431305.1 UniProtKB/TrEMBL
  ENSP00000432191.1 UniProtKB/TrEMBL
  ENSP00000434151.1 UniProtKB/TrEMBL
  ENSP00000435295.1 UniProtKB/Swiss-Prot
  ENSP00000435419.1 UniProtKB/TrEMBL
  ENSP00000435823.1 UniProtKB/TrEMBL
  ENSP00000435963.1 UniProtKB/TrEMBL
  ENSP00000436521.1 UniProtKB/TrEMBL
  ENSP00000436526.1 UniProtKB/TrEMBL
  ENSP00000436536.1 UniProtKB/TrEMBL
  ENSP00000437238.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000307998 ENTREZGENE
  ENST00000307998.11 UniProtKB/Swiss-Prot
  ENST00000524408.1 UniProtKB/TrEMBL
  ENST00000526624.5 UniProtKB/TrEMBL
  ENST00000526911.1 UniProtKB/TrEMBL
  ENST00000527277.5 UniProtKB/TrEMBL
  ENST00000527378.1 UniProtKB/TrEMBL
  ENST00000528176 ENTREZGENE
  ENST00000528176.5 UniProtKB/TrEMBL
  ENST00000530806.5 UniProtKB/TrEMBL
  ENST00000530850.1 UniProtKB/TrEMBL
  ENST00000531645.5 UniProtKB/TrEMBL
  ENST00000531972.5 UniProtKB/Swiss-Prot
  ENST00000533347.5 UniProtKB/TrEMBL
GTEx ENSG00000172638 GTEx
HGNC ID HGNC:3219 ENTREZGENE
Human Proteome Map EFEMP2 Human Proteome Map
InterPro cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Efemp2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibulin-5 UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:30008 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 30008 ENTREZGENE
OMIM 604633 OMIM
  614437 OMIM
PANTHER PTHR24034:SF96 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24050:SF21 UniProtKB/TrEMBL
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27653 PharmGKB
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R5G1 ENTREZGENE, UniProtKB/TrEMBL
  E9PI47_HUMAN UniProtKB/TrEMBL
  E9PKA3_HUMAN UniProtKB/TrEMBL
  E9PNB8_HUMAN UniProtKB/TrEMBL
  E9PRQ8_HUMAN UniProtKB/TrEMBL
  E9PRU1_HUMAN UniProtKB/TrEMBL
  E9PSC1_HUMAN UniProtKB/TrEMBL
  FBLN4_HUMAN UniProtKB/Swiss-Prot
  H0YCB5_HUMAN UniProtKB/TrEMBL
  H0YCR9_HUMAN UniProtKB/TrEMBL
  H0YET5_HUMAN UniProtKB/TrEMBL
  H0YEU0_HUMAN UniProtKB/TrEMBL
  O75967 ENTREZGENE
  O95967 ENTREZGENE
  Q6FH22_HUMAN UniProtKB/TrEMBL
  Q9H3D5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K7R4 UniProtKB/Swiss-Prot
  B3KM31 UniProtKB/Swiss-Prot
  B3KQT1 UniProtKB/Swiss-Prot
  O75967 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-17 EFEMP2  EGF containing fibulin extracellular matrix protein 2    EGF containing fibulin like extracellular matrix protein 2  Symbol and/or name change 5135510 APPROVED
2016-05-17 EFEMP2  EGF containing fibulin like extracellular matrix protein 2    EGF containing fibulin-like extracellular matrix protein 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 EFEMP2  EGF containing fibulin-like extracellular matrix protein 2  EFEMP2  EGF containing fibulin-like extracellular matrix protein 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 EFEMP2  EGF containing fibulin-like extracellular matrix protein 2  EFEMP2  EGF-containing fibulin-like extracellular matrix protein 2  Symbol and/or name change 5135510 APPROVED