ERLEC1 (endoplasmic reticulum lectin 1) - Rat Genome Database

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Gene: ERLEC1 (endoplasmic reticulum lectin 1) Homo sapiens
Analyze
Symbol: ERLEC1
Name: endoplasmic reticulum lectin 1
RGD ID: 1315163
HGNC Page HGNC
Description: Enables unfolded protein binding activity. Involved in negative regulation of retrograde protein transport, ER to cytosol and ubiquitin-dependent ERAD pathway. Located in endoplasmic reticulum lumen.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C2orf30; cancer invasion and metastasis-related; CIM; CL24936; CL25084; epididymis luminal protein 117; ER lectin; erlectin 1; HEL117; XTP3-B; XTP3-transactivated gene B protein; XTP3-transactivated protein B; XTP3TPB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ERLEC1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl253,787,044 - 53,818,819 (+)EnsemblGRCh38hg38GRCh38
GRCh38253,787,017 - 53,834,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37254,014,181 - 54,045,933 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36253,867,721 - 53,899,437 (+)NCBINCBI36hg18NCBI36
Build 34253,925,867 - 53,957,584NCBI
Celera253,854,922 - 53,887,349 (+)NCBI
Cytogenetic Map2p16.2NCBI
HuRef253,748,407 - 53,780,295 (+)NCBIHuRef
CHM1_1253,945,053 - 53,976,959 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Pipeline to import KEGG annotations from KEGG into RGD
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15489334   PMID:15815621   PMID:16531414   PMID:18264092   PMID:18502753   PMID:18538572   PMID:19917667  
PMID:20816211   PMID:21062743   PMID:21118962   PMID:21404621   PMID:21723917   PMID:21873635   PMID:21917589   PMID:22119785   PMID:22190034   PMID:22268729   PMID:22810586   PMID:22939629  
PMID:23097496   PMID:23356641   PMID:24035498   PMID:25544563   PMID:25640309   PMID:25660456   PMID:25798074   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:27432908  
PMID:28366632   PMID:28514442   PMID:28675297   PMID:29676528   PMID:29706535   PMID:29987050   PMID:30833792   PMID:31073040   PMID:32149426   PMID:32353859   PMID:32409323   PMID:32513696  
PMID:32614325   PMID:32838362   PMID:33060197   PMID:33144569  


Genomics

Comparative Map Data
ERLEC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl253,787,044 - 53,818,819 (+)EnsemblGRCh38hg38GRCh38
GRCh38253,787,017 - 53,834,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37254,014,181 - 54,045,933 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36253,867,721 - 53,899,437 (+)NCBINCBI36hg18NCBI36
Build 34253,925,867 - 53,957,584NCBI
Celera253,854,922 - 53,887,349 (+)NCBI
Cytogenetic Map2p16.2NCBI
HuRef253,748,407 - 53,780,295 (+)NCBIHuRef
CHM1_1253,945,053 - 53,976,959 (+)NCBICHM1_1
Erlec1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391130,812,794 - 30,904,385 (-)NCBIGRCm39mm39
GRCm39 Ensembl1130,880,774 - 30,904,335 (-)Ensembl
GRCm381130,862,794 - 30,954,386 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1130,930,774 - 30,954,335 (-)EnsemblGRCm38mm10GRCm38
MGSCv371130,829,784 - 30,854,131 (-)NCBIGRCm37mm9NCBIm37
MGSCv361130,831,419 - 30,854,123 (-)NCBImm8
Celera1133,335,160 - 33,359,441 (-)NCBICelera
Cytogenetic Map11A4NCBI
Erlec1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.214104,655,745 - 104,693,508 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl14104,655,673 - 104,693,480 (-)Ensembl
Rnor_6.014115,314,890 - 115,352,871 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14115,314,890 - 115,352,562 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.014114,972,393 - 115,009,275 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414112,046,496 - 112,086,271 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.114112,072,200 - 112,112,551 (-)NCBI
Celera14103,493,416 - 103,531,051 (-)NCBICelera
Cytogenetic Map14q22NCBI
Erlec1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544119,535,425 - 19,557,458 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544119,535,425 - 19,557,960 (+)NCBIChiLan1.0ChiLan1.0
ERLEC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A54,842,228 - 54,874,068 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A54,842,228 - 54,874,068 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A53,930,280 - 53,962,178 (+)NCBIMhudiblu_PPA_v0panPan3
ERLEC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11054,815,592 - 54,845,776 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1054,815,638 - 54,845,080 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1054,767,465 - 54,797,664 (+)NCBI
ROS_Cfam_1.01055,814,249 - 55,845,028 (+)NCBI
UMICH_Zoey_3.11055,507,493 - 55,537,678 (+)NCBI
UNSW_CanFamBas_1.01055,793,731 - 55,824,185 (+)NCBI
UU_Cfam_GSD_1.01056,080,596 - 56,110,787 (+)NCBI
Erlec1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629228,193,321 - 28,219,474 (-)NCBI
SpeTri2.0NW_004936491351,813 - 377,978 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERLEC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl387,355,904 - 87,389,814 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1387,362,166 - 87,389,814 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2392,521,490 - 92,549,096 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERLEC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11453,150,627 - 53,188,821 (-)NCBI
ChlSab1.1 Ensembl1453,154,556 - 53,188,538 (-)Ensembl
Vero_WHO_p1.0NW_02366604558,516,256 - 58,554,383 (+)NCBI
Erlec1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248337,964,815 - 7,992,277 (+)NCBI

Position Markers
WI-15186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37254,024,690 - 54,024,928UniSTSGRCh37
Build 36253,878,194 - 53,878,432RGDNCBI36
Celera253,865,544 - 53,865,782RGD
Cytogenetic Map2p16UniSTS
Cytogenetic Map2p16.2UniSTS
HuRef253,759,029 - 53,759,267UniSTS
GeneMap99-GB4 RH Map2170.04UniSTS
Whitehead-RH Map2228.3UniSTS
A002T41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37254,045,755 - 54,045,867UniSTSGRCh37
Build 36253,899,259 - 53,899,371RGDNCBI36
Celera253,886,609 - 53,886,721RGD
Cytogenetic Map2p16UniSTS
Cytogenetic Map2p16.2UniSTS
HuRef253,780,094 - 53,780,206UniSTS
GeneMap99-GB4 RH Map2170.32UniSTS
G31468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37254,045,181 - 54,045,300UniSTSGRCh37
Build 36253,898,685 - 53,898,804RGDNCBI36
Celera253,886,035 - 53,886,154RGD
Cytogenetic Map2p16UniSTS
Cytogenetic Map2p16.2UniSTS
HuRef253,779,520 - 53,779,639UniSTS
EST26H8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37254,045,222 - 54,045,419UniSTSGRCh37
Build 36253,898,726 - 53,898,923RGDNCBI36
Celera253,886,076 - 53,886,273RGD
HuRef253,779,561 - 53,779,758UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:734
Count of miRNA genes:308
Interacting mature miRNAs:340
Transcripts:ENST00000185150, ENST00000378239, ENST00000405123, ENST00000494373
Prediction methods: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 2431 2337 1690 592 1415 432 4349 2079 3521 402 1450 1608 171 1204 2784 4 2
Low 8 654 36 32 536 33 8 116 211 17 10 4 4 1 4 2
Below cutoff 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA687108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY453410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ017438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU784879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB451941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB539199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000185150   ⟹   ENSP00000185150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl253,787,044 - 53,818,796 (+)Ensembl
RefSeq Acc Id: ENST00000378239   ⟹   ENSP00000367485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl253,787,080 - 53,818,819 (+)Ensembl
RefSeq Acc Id: ENST00000405123   ⟹   ENSP00000385629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl253,787,080 - 53,818,220 (+)Ensembl
RefSeq Acc Id: ENST00000494373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl253,787,044 - 53,794,377 (+)Ensembl
RefSeq Acc Id: NM_001127397   ⟹   NP_001120869
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38253,787,044 - 53,818,796 (+)NCBI
GRCh37254,014,068 - 54,045,956 (+)NCBI
HuRef253,748,407 - 53,780,295 (+)NCBI
CHM1_1253,945,053 - 53,976,959 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127398   ⟹   NP_001120870
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38253,787,044 - 53,818,796 (+)NCBI
GRCh37254,014,068 - 54,045,956 (+)NCBI
HuRef253,748,407 - 53,780,295 (+)NCBI
CHM1_1253,945,053 - 53,976,959 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015701   ⟹   NP_056516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38253,787,044 - 53,818,796 (+)NCBI
GRCh37254,014,068 - 54,045,956 (+)NCBI
Build 36253,867,721 - 53,899,437 (+)NCBI Archive
HuRef253,748,407 - 53,780,295 (+)NCBI
CHM1_1253,945,053 - 53,976,959 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532766   ⟹   XP_011531068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38253,787,017 - 53,826,928 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452792   ⟹   XP_024308560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38253,787,017 - 53,834,524 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452793   ⟹   XP_024308561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38253,787,017 - 53,834,524 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056516   ⟸   NM_015701
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96DZ1 (UniProtKB/Swiss-Prot),   V9HWD3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120869   ⟸   NM_001127397
- Peptide Label: isoform 2 precursor
- UniProtKB: Q96DZ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001120870   ⟸   NM_001127398
- Peptide Label: isoform 3 precursor
- UniProtKB: Q96DZ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531068   ⟸   XM_011532766
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308560   ⟸   XM_024452792
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308561   ⟸   XM_024452793
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000367485   ⟸   ENST00000378239
RefSeq Acc Id: ENSP00000385629   ⟸   ENST00000405123
RefSeq Acc Id: ENSP00000185150   ⟸   ENST00000185150
Protein Domains
PRKCSH

Promoters
RGD ID:6860316
Promoter ID:EPDNEW_H3323
Type:initiation region
Name:ERLEC1_1
Description:endoplasmic reticulum lectin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38253,787,044 - 53,787,104EPDNEW
RGD ID:6797444
Promoter ID:HG_KWN:32643
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127397,   NM_001127398,   NM_015701,   OTTHUMT00000324662,   OTTHUMT00000326486
Position:
Human AssemblyChrPosition (strand)Source
Build 36253,867,366 - 53,867,866 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh37/hg19 2p16.2(chr2:53995091-54042035)x3 copy number gain Ductal breast carcinoma [RCV000207257] Chr2:53995091..54042035 [GRCh37]
Chr2:2p16.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1 copy number loss See cases [RCV000512533] Chr2:47361260..54934153 [GRCh37]
Chr2:2p21-16.2
pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015701.5(ERLEC1):c.1062T>C (p.Tyr354=) single nucleotide variant not provided [RCV000955921] Chr2:53809234 [GRCh38]
Chr2:54036371 [GRCh37]
Chr2:2p16.2
benign
NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser) single nucleotide variant Mandibular prognathia [RCV001258380] Chr2:53817965 [GRCh38]
Chr2:54045102 [GRCh37]
Chr2:2p16.2
likely pathogenic
NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser) single nucleotide variant Mandibular prognathia [RCV001258378] Chr2:53797585 [GRCh38]
Chr2:54024722 [GRCh37]
Chr2:2p16.2
likely pathogenic
NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr) single nucleotide variant Mandibular prognathia [RCV001258377] Chr2:53814553 [GRCh38]
Chr2:54041690 [GRCh37]
Chr2:2p16.2
likely pathogenic
GRCh37/hg19 2p16.2(chr2:54014939-54071351)x1 copy number loss not provided [RCV001260157] Chr2:54014939..54071351 [GRCh37]
Chr2:2p16.2
likely benign
NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile) single nucleotide variant Mandibular prognathia [RCV001258379] Chr2:53797585 [GRCh38]
Chr2:54024722 [GRCh37]
Chr2:2p16.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25222 AgrOrtholog
COSMIC ERLEC1 COSMIC
Ensembl Genes ENSG00000068912 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000185150 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367485 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385629 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000185150 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378239 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405123 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.70.130.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000068912 GTEx
HGNC ID HGNC:25222 ENTREZGENE
Human Proteome Map ERLEC1 Human Proteome Map
InterPro Man6P_isomerase_rcpt-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OS9-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27248 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27248 ENTREZGENE
OMIM 611229 OMIM
Pfam PRKCSH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165696636 PharmGKB
PROSITE MRH UniProtKB/Swiss-Prot
UniProt ERLEC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HWD3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RDB4 UniProtKB/Swiss-Prot
  B5MC72 UniProtKB/Swiss-Prot
  O95901 UniProtKB/Swiss-Prot
  Q6UWN7 UniProtKB/Swiss-Prot
  Q9NUY7 UniProtKB/Swiss-Prot
  Q9UQL4 UniProtKB/Swiss-Prot