ZFPM2 (zinc finger protein, FOG family member 2) - Rat Genome Database

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Gene: ZFPM2 (zinc finger protein, FOG family member 2) Homo sapiens
Analyze
Symbol: ZFPM2
Name: zinc finger protein, FOG family member 2
RGD ID: 1314398
HGNC Page HGNC
Description: Exhibits transcription coactivator activity; transcription corepressor activity; and transcription factor binding activity. Involved in cardiac chamber morphogenesis; negative regulation of fat cell differentiation; and regulation of transcription by RNA polymerase II. Localizes to nucleoplasm. Implicated in 46,XY sex reversal 9; myelodysplastic syndrome; and tetralogy of Fallot.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DIH3; FOG-2; FOG2; friend of GATA 2; friend of GATA protein 2; Friend of GATA2; hFOG-2; MGC129663; MGC129664; SRXY9; transcription factor GATA4, modulator of; ZC2HC11B; zinc finger protein 89B; zinc finger protein ZFPM2; zinc finger protein, multitype 2; ZNF89B
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
GRCh38.p13 Ensembl8104,590,733 - 105,804,539 (+)EnsemblGRCh38hg38GRCh38
GRCh388105,318,438 - 105,804,539 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378106,330,666 - 106,816,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368106,400,323 - 106,885,943 (+)NCBINCBI36hg18NCBI36
Build 348106,400,322 - 106,885,941NCBI
Celera8102,518,281 - 103,003,726 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8101,532,803 - 102,138,045 (+)NCBIHuRef
CHM1_18106,371,762 - 106,857,264 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytoplasm  (IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal labia morphology  (IAGP)
Abnormal nasal morphology  (IAGP)
Abnormal sex determination  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the scrotum  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Adrenal insufficiency  (IAGP)
Ambiguous genitalia  (IAGP)
Aplasia/Hypoplasia of the diaphragm  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Azoospermia  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clitoral hypertrophy  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in females  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone level  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Female external genitalia in individual with 46,XY karyotype  (IAGP)
Fused labia minora  (IAGP)
Gonadal dysgenesis  (IAGP)
Gynecomastia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypoplasia of the vagina  (IAGP)
Hypospadias  (IAGP)
Hypoxemia  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Male infertility  (IAGP)
Micropenis  (IAGP)
Nephroblastoma  (IAGP)
Nephrotic syndrome  (IAGP)
Osteoporosis  (IAGP)
Ovarian gonadoblastoma  (IAGP)
Preauricular pit  (IAGP)
Primary amenorrhea  (IAGP)
Primary gonadal insufficiency  (IAGP)
Prominent sternum  (IAGP)
Proptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Respiratory distress  (IAGP)
Sex reversal  (IAGP)
Sparse axillary hair  (IAGP)
Sparse pubic hair  (IAGP)
Streak ovary  (IAGP)
Testicular gonadoblastoma  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin vermilion border  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Urogenital sinus anomaly  (IAGP)
Vanishing testis  (IAGP)
References

Additional References at PubMed
PMID:9927675   PMID:10329627   PMID:10438528   PMID:10801815   PMID:11297508   PMID:12477932   PMID:12606418   PMID:14985365   PMID:15220332   PMID:15489334   PMID:15643620   PMID:16103912  
PMID:16713569   PMID:17309641   PMID:17568391   PMID:18067919   PMID:18252717   PMID:18658259   PMID:19274049   PMID:19723756   PMID:20005803   PMID:20206639   PMID:20301533   PMID:20379614  
PMID:20705609   PMID:20807224   PMID:21220346   PMID:21525063   PMID:21658281   PMID:21757650   PMID:21873635   PMID:21919901   PMID:21947317   PMID:21988832   PMID:22139419   PMID:22558309  
PMID:22570617   PMID:23029311   PMID:23082233   PMID:23453885   PMID:23870195   PMID:24057671   PMID:24179092   PMID:24469719   PMID:24549039   PMID:24702427   PMID:24743694   PMID:24769157  
PMID:25025186   PMID:25178676   PMID:26207917   PMID:26959486   PMID:26972000   PMID:27432908   PMID:27634302   PMID:28373160   PMID:29018978   PMID:29972125   PMID:31962012   PMID:32296183  
PMID:32633364   PMID:32814053  


Genomics

Candidate Gene Status
ZFPM2 is a candidate Gene for QTL GLUCO144_H
Comparative Map Data
ZFPM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8104,590,733 - 105,804,539 (+)EnsemblGRCh38hg38GRCh38
GRCh388105,318,438 - 105,804,539 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378106,330,666 - 106,816,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368106,400,323 - 106,885,943 (+)NCBINCBI36hg18NCBI36
Build 348106,400,322 - 106,885,941NCBI
Celera8102,518,281 - 103,003,726 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8101,532,803 - 102,138,045 (+)NCBIHuRef
CHM1_18106,371,762 - 106,857,264 (+)NCBICHM1_1
Zfpm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391540,518,438 - 40,967,988 (+)NCBIGRCm39mm39
GRCm39 Ensembl1540,518,431 - 40,967,988 (+)Ensembl
GRCm381540,655,042 - 41,104,592 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1540,655,035 - 41,104,592 (+)EnsemblGRCm38mm10GRCm38
MGSCv371540,486,588 - 40,936,138 (+)NCBIGRCm37mm9NCBIm37
MGSCv361540,485,116 - 40,934,666 (+)NCBImm8
Celera1541,140,194 - 41,582,164 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1515.74NCBI
Zfpm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2771,678,658 - 72,116,209 (+)NCBI
Rnor_6.0 Ensembl779,638,046 - 79,964,405 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0779,471,277 - 79,964,405 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0779,491,886 - 79,976,680 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4776,210,472 - 76,654,443 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1776,324,843 - 76,675,169 (+)NCBI
Celera768,728,223 - 69,158,299 (+)NCBICelera
Cytogenetic Map7q31NCBI
Zfpm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541728,920,210 - 29,269,271 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541728,931,428 - 29,268,778 (+)NCBIChiLan1.0ChiLan1.0
ZFPM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18104,193,343 - 104,577,698 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8104,023,062 - 104,576,688 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08101,872,850 - 102,430,622 (+)NCBIMhudiblu_PPA_v0panPan3
ZFPM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1136,435,368 - 6,796,903 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl136,336,794 - 6,796,322 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha136,442,921 - 6,803,153 (+)NCBI
ROS_Cfam_1.0136,588,050 - 7,045,717 (+)NCBI
UMICH_Zoey_3.1136,451,443 - 6,811,875 (+)NCBI
UNSW_CanFamBas_1.0136,571,226 - 6,931,950 (+)NCBI
UU_Cfam_GSD_1.0136,646,836 - 7,007,257 (+)NCBI
Zfpm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530331,006,795 - 31,431,557 (-)NCBI
SpeTri2.0NW_00493647038,432,894 - 38,857,656 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZFPM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl431,606,751 - 32,094,340 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1431,607,968 - 31,996,226 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2434,232,973 - 34,242,599 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2434,441,657 - 34,641,574 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZFPM2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18100,138,867 - 100,620,355 (+)NCBI
Zfpm2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476321,388,060 - 21,708,969 (+)NCBI

Position Markers
D8S1768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,363,476 - 106,363,677UniSTSGRCh37
Build 368106,432,652 - 106,432,853RGDNCBI36
Celera8102,550,589 - 102,550,790RGD
Cytogenetic Map8q23UniSTS
HuRef8101,565,138 - 101,565,345UniSTS
Marshfield Genetic Map8118.15UniSTS
Marshfield Genetic Map8118.15RGD
Genethon Genetic Map8116.8UniSTS
deCODE Assembly Map8112.64UniSTS
D8S1703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,348,865 - 106,349,016UniSTSGRCh37
Build 368106,418,041 - 106,418,192RGDNCBI36
Celera8102,535,979 - 102,536,130RGD
Cytogenetic Map8q23UniSTS
HuRef8101,550,530 - 101,550,679UniSTS
Marshfield Genetic Map8118.15RGD
Marshfield Genetic Map8118.15UniSTS
Genethon Genetic Map8116.8UniSTS
deCODE Assembly Map8112.64UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH48595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,653,731 - 106,653,853UniSTSGRCh37
Build 368106,722,907 - 106,723,029RGDNCBI36
Celera8102,841,011 - 102,841,133RGD
Cytogenetic Map8q23UniSTS
HuRef8101,975,726 - 101,975,848UniSTS
GeneMap99-GB4 RH Map8444.05UniSTS
RH79250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,516,690 - 106,516,813UniSTSGRCh37
Build 368106,585,866 - 106,585,989RGDNCBI36
Celera8102,704,277 - 102,704,400RGD
Cytogenetic Map8q23UniSTS
HuRef8101,839,105 - 101,839,228UniSTS
GeneMap99-GB4 RH Map8444.25UniSTS
RH93255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,589,901 - 106,590,000UniSTSGRCh37
Build 368106,659,077 - 106,659,176RGDNCBI36
Celera8102,777,159 - 102,777,258RGD
Cytogenetic Map8q23UniSTS
HuRef8101,911,929 - 101,912,028UniSTS
GeneMap99-GB4 RH Map8444.05UniSTS
SHGC-83420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,690,204 - 106,690,474UniSTSGRCh37
Build 368106,759,380 - 106,759,650RGDNCBI36
Celera8102,877,159 - 102,877,429RGD
Cytogenetic Map8q23UniSTS
HuRef8102,011,870 - 102,012,140UniSTS
TNG Radiation Hybrid Map852328.0UniSTS
SHGC-85791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,340,294 - 106,340,486UniSTSGRCh37
Build 368106,409,470 - 106,409,662RGDNCBI36
Celera8102,527,426 - 102,527,618RGD
Cytogenetic Map8q23UniSTS
HuRef8101,541,945 - 101,542,137UniSTS
TNG Radiation Hybrid Map852124.0UniSTS
G49581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,394,999 - 106,395,107UniSTSGRCh37
Build 368106,464,175 - 106,464,283RGDNCBI36
Celera8102,582,176 - 102,582,284RGD
Cytogenetic Map8q23UniSTS
HuRef8101,717,342 - 101,717,450UniSTS
TNG Radiation Hybrid Map852139.0UniSTS
SHGC-110826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,635,793 - 106,636,063UniSTSGRCh37
Build 368106,704,969 - 106,705,239RGDNCBI36
Celera8102,823,065 - 102,823,335RGD
Cytogenetic Map8q23UniSTS
HuRef8101,957,775 - 101,958,045UniSTS
TNG Radiation Hybrid Map852267.0UniSTS
A007K30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,400,234 - 106,400,387UniSTSGRCh37
Build 368106,469,410 - 106,469,563RGDNCBI36
Celera8102,587,411 - 102,587,564RGD
Cytogenetic Map8q23UniSTS
HuRef8101,722,577 - 101,722,730UniSTS
GeneMap99-GB4 RH Map8440.02UniSTS
ZFPM2_8010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,816,207 - 106,816,886UniSTSGRCh37
Build 368106,885,383 - 106,886,062RGDNCBI36
Celera8103,003,166 - 103,003,845RGD
HuRef8102,137,485 - 102,138,164UniSTS
D8S1897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,347,105 - 106,347,214UniSTSGRCh37
Build 368106,416,281 - 106,416,390RGDNCBI36
Celera8102,534,219 - 102,534,328RGD
Cytogenetic Map8q23UniSTS
HuRef8101,548,770 - 101,548,879UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,402,794 - 106,403,026UniSTSGRCh37
Build 368106,471,970 - 106,472,202RGDNCBI36
Celera8102,589,971 - 102,590,203RGD
Cytogenetic Map8q23UniSTS
HuRef8101,725,137 - 101,725,369UniSTS
Whitehead-RH Map8587.4UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH18423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,815,616 - 106,815,791UniSTSGRCh37
Build 368106,884,792 - 106,884,967RGDNCBI36
Celera8103,002,575 - 103,002,750RGD
Cytogenetic Map8q23UniSTS
HuRef8102,136,894 - 102,137,069UniSTS
GeneMap99-GB4 RH Map8440.02UniSTS
D8S2005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,663,824 - 106,663,963UniSTSGRCh37
Build 368106,733,000 - 106,733,139RGDNCBI36
Celera8102,851,104 - 102,851,243RGD
Cytogenetic Map8q23UniSTS
HuRef8101,985,815 - 101,985,954UniSTS
RH68588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378106,522,708 - 106,522,835UniSTSGRCh37
Build 368106,591,884 - 106,592,011RGDNCBI36
Celera8102,710,295 - 102,710,422RGD
Cytogenetic Map8q23UniSTS
HuRef8101,845,123 - 101,845,250UniSTS
GeneMap99-GB4 RH Map8444.35UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR429hsa-miR-429Mirecordsexternal_infoNANA20005803
MIR200Bhsa-miR-200b-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20005803
MIR200Bhsa-miR-200b-5pMirecordsexternal_infoNANA20005803
MIR200Ahsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20005803
MIR200Ahsa-miR-200a-3pMirecordsexternal_infoNANA20005803
MIR429hsa-miR-429Mirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20005803
MIR200Chsa-miR-200c-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20005803
MIR200Chsa-miR-200c-5pMirecordsexternal_infoNANA20005803
MIR141hsa-miR-141-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20005803
MIR141hsa-miR-141-3pMirecordsexternal_infoNANA20005803

Predicted Target Of
Summary Value
Count of predictions:1364
Count of miRNA genes:658
Interacting mature miRNAs:786
Transcripts:ENST00000378472, ENST00000407775, ENST00000511341, ENST00000517361, ENST00000520027, ENST00000520492, ENST00000522160, ENST00000522296, ENST00000524235
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 90 426 145 2 5 3 331 101 494 18 408 183 392 231
Low 2117 1775 1412 461 543 326 3787 2040 3109 283 863 1337 145 812 2548 2 1
Below cutoff 183 628 164 157 770 133 229 51 123 106 168 76 29 1 9 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC041039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000407775   ⟹   ENSP00000384179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,318,438 - 105,804,539 (+)Ensembl
RefSeq Acc Id: ENST00000511341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,387,146 - 105,789,027 (+)Ensembl
RefSeq Acc Id: ENST00000517361   ⟹   ENSP00000428720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,528,884 - 105,803,597 (+)Ensembl
RefSeq Acc Id: ENST00000518180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,703,719 - 105,419,260 (+)Ensembl
RefSeq Acc Id: ENST00000520027   ⟹   ENSP00000428149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,358,478 - 105,634,299 (+)Ensembl
RefSeq Acc Id: ENST00000520492   ⟹   ENSP00000430757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,319,543 - 105,803,870 (+)Ensembl
RefSeq Acc Id: ENST00000521923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8104,590,733 - 104,895,717 (+)Ensembl
RefSeq Acc Id: ENST00000522160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,419,144 - 105,451,764 (+)Ensembl
RefSeq Acc Id: ENST00000522296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,690,890 - 105,803,600 (+)Ensembl
RefSeq Acc Id: ENST00000524235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8105,358,517 - 105,561,422 (+)Ensembl
RefSeq Acc Id: NM_001362836   ⟹   NP_001349765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388105,318,438 - 105,804,539 (+)NCBI
RefSeq Acc Id: NM_001362837   ⟹   NP_001349766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388105,319,543 - 105,804,539 (+)NCBI
RefSeq Acc Id: NM_012082   ⟹   NP_036214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388105,318,438 - 105,804,539 (+)NCBI
GRCh378106,330,917 - 106,816,767 (+)NCBI
Build 368106,400,323 - 106,885,943 (+)NCBI Archive
HuRef8101,532,803 - 102,138,045 (+)ENTREZGENE
CHM1_18106,371,762 - 106,857,264 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516947   ⟹   XP_011515249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388105,351,259 - 105,804,187 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036214   ⟸   NM_012082
- Peptide Label: isoform 1
- UniProtKB: Q8WW38 (UniProtKB/Swiss-Prot),   Q9NPQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515249   ⟸   XM_011516947
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001349765   ⟸   NM_001362836
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001349766   ⟸   NM_001362837
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000428720   ⟸   ENST00000517361
RefSeq Acc Id: ENSP00000428149   ⟸   ENST00000520027
RefSeq Acc Id: ENSP00000430757   ⟸   ENST00000520492
RefSeq Acc Id: ENSP00000384179   ⟸   ENST00000407775
Protein Domains
C2H2-type   CCHC FOG-type

Promoters
RGD ID:7213967
Promoter ID:EPDNEW_H12729
Type:initiation region
Name:ZFPM2_1
Description:zinc finger protein, FOG family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388105,318,736 - 105,318,796EPDNEW
RGD ID:6807174
Promoter ID:HG_KWN:61892
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:UC003YMD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368106,399,886 - 106,400,737 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000144723]|46,XY sex reversal, type 3 [RCV001007702]|Tetralogy of Fallot [RCV000032716]|not provided [RCV000514546]|not specified [RCV000455350] Chr8:105801714 [GRCh38]
Chr8:106813942 [GRCh37]
Chr8:8q23.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr) single nucleotide variant not provided [RCV000522745] Chr8:105801602 [GRCh38]
Chr8:106813830 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) single nucleotide variant 46,XY sex reversal 9 [RCV000467901]|Tetralogy of Fallot [RCV000006501] Chr8:105802051 [GRCh38]
Chr8:106814279 [GRCh37]
Chr8:8q23.1
pathogenic|benign
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) single nucleotide variant 46,XY sex reversal 9 [RCV000461090]|46,XY sex reversal, type 3 [RCV001007696]|Diaphragmatic hernia 3 [RCV000172841]|Double outlet right ventricle [RCV000032713]|Tetralogy of Fallot [RCV000006502] Chr8:105419192 [GRCh38]
Chr8:106431420 [GRCh37]
Chr8:8q23.1
pathogenic|benign|likely benign
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) single nucleotide variant Diaphragmatic hernia 3 [RCV000006503] Chr8:105561395 [GRCh38]
Chr8:106573623 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) single nucleotide variant 46,XY sex reversal 9 [RCV000861889]|46,XY sex reversal, type 3 [RCV001007705]|Diaphragmatic hernia 3 [RCV000006504]|Double outlet right ventricle [RCV000032715] Chr8:105802189 [GRCh38]
Chr8:106814417 [GRCh37]
Chr8:8q23.1
pathogenic|benign|conflicting interpretations of pathogenicity
NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala) single nucleotide variant Diaphragmatic hernia 3 [RCV000006505] Chr8:105802609 [GRCh38]
Chr8:106814837 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=) single nucleotide variant Tetralogy of Fallot [RCV001197231] Chr8:105802320 [GRCh38]
Chr8:106814548 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met) single nucleotide variant Double outlet right ventricle [RCV000032714] Chr8:105788866 [GRCh38]
Chr8:106801094 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu) single nucleotide variant Double outlet right ventricle [RCV000032717] Chr8:105802291 [GRCh38]
Chr8:106814519 [GRCh37]
Chr8:8q23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1 copy number loss See cases [RCV000051020] Chr8:105053530..107803535 [GRCh38]
Chr8:106065758..108815763 [GRCh37]
Chr8:106134934..108884939 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.1(chr8:105449064-105643160)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052790]|See cases [RCV000052790] Chr8:105449064..105643160 [GRCh38]
Chr8:106461292..106655388 [GRCh37]
Chr8:106530468..106724564 [NCBI36]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_012082.3(ZFPM2):c.1113C>T (p.Gly371=) single nucleotide variant Malignant melanoma [RCV000068075] Chr8:105801195 [GRCh38]
Chr8:106813423 [GRCh37]
Chr8:106882599 [NCBI36]
Chr8:8q23.1
not provided
NM_012082.3(ZFPM2):c.2168C>T (p.Ser723Phe) single nucleotide variant Malignant melanoma [RCV000068076] Chr8:105802250 [GRCh38]
Chr8:106814478 [GRCh37]
Chr8:106883654 [NCBI36]
Chr8:8q23.1
not provided
NM_012082.3(ZFPM2):c.3054G>A (p.Gln1018=) single nucleotide variant Malignant melanoma [RCV000068077] Chr8:105803136 [GRCh38]
Chr8:106815364 [GRCh37]
Chr8:106884540 [NCBI36]
Chr8:8q23.1
not provided
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) single nucleotide variant 46,XY sex reversal 9 [RCV000144724] Chr8:105801288 [GRCh38]
Chr8:106813516 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) single nucleotide variant 46,XY sex reversal 9 [RCV000144725] Chr8:105798763 [GRCh38]
Chr8:106810991 [GRCh37]
Chr8:8q23.1
pathogenic|not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3 copy number gain See cases [RCV000137805] Chr8:105380252..106481199 [GRCh38]
Chr8:106392480..107493427 [GRCh37]
Chr8:106461656..107562603 [NCBI36]
Chr8:8q23.1
pathogenic|likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3 copy number gain See cases [RCV000138266] Chr8:105374298..106481199 [GRCh38]
Chr8:106386526..107493427 [GRCh37]
Chr8:106455702..107562603 [NCBI36]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:105081855-105886355)x3 copy number gain See cases [RCV000142128] Chr8:105081855..105886355 [GRCh38]
Chr8:106094083..106898583 [GRCh37]
Chr8:106163259..106967759 [NCBI36]
Chr8:8q22.3-23.1
uncertain significance
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NC_000008.11:g.105297869T>C single nucleotide variant Lung cancer [RCV000106768] Chr8:105297869 [GRCh38]
Chr8:106310097 [GRCh37]
Chr8:8q23.1
uncertain significance
NC_000008.11:g.105313726T>A single nucleotide variant Lung cancer [RCV000106769] Chr8:105313726 [GRCh38]
Chr8:106325954 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000546799] Chr8:105634269 [GRCh38]
Chr8:106646497 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) single nucleotide variant 46,XY sex reversal 9 [RCV000231192]|46,XY sex reversal, type 3 [RCV001007699] Chr8:105444372 [GRCh38]
Chr8:106456600 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) single nucleotide variant 46,XY sex reversal 9 [RCV000233426] Chr8:105802178 [GRCh38]
Chr8:106814406 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) single nucleotide variant 46,XY sex reversal 9 [RCV000227236] Chr8:105802747 [GRCh38]
Chr8:106814975 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) single nucleotide variant 46,XY sex reversal 9 [RCV000546178] Chr8:105803160 [GRCh38]
Chr8:106815388 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile) single nucleotide variant not provided [RCV000520007] Chr8:105801714 [GRCh38]
Chr8:106813942 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) single nucleotide variant 46,XY sex reversal 9 [RCV000475888]|not specified [RCV000243857] Chr8:105801858 [GRCh38]
Chr8:106814086 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) single nucleotide variant 46,XY sex reversal 9 [RCV000470649]|not specified [RCV000244154] Chr8:105802467 [GRCh38]
Chr8:106814695 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) single nucleotide variant 46,XY sex reversal 9 [RCV000462912]|not specified [RCV000249120] Chr8:105803058 [GRCh38]
Chr8:106815286 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.302-13C>T single nucleotide variant not specified [RCV000254101] Chr8:105561350 [GRCh38]
Chr8:106573578 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) single nucleotide variant not specified [RCV000244414] Chr8:105803289 [GRCh38]
Chr8:106815517 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) single nucleotide variant not specified [RCV000246895] Chr8:105801290 [GRCh38]
Chr8:106813518 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) single nucleotide variant 46,XY sex reversal 9 [RCV000559499]|46,XY sex reversal, type 3 [RCV001007700]|not specified [RCV000249373] Chr8:105788814 [GRCh38]
Chr8:106801042 [GRCh37]
Chr8:8q23.1
benign|likely benign
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) single nucleotide variant not specified [RCV000251859] Chr8:105801444 [GRCh38]
Chr8:106813672 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=) single nucleotide variant not specified [RCV000247198] Chr8:105801933 [GRCh38]
Chr8:106814161 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) single nucleotide variant not specified [RCV000252167] Chr8:105802428 [GRCh38]
Chr8:106814656 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) single nucleotide variant 46,XY sex reversal 9 [RCV000529779] Chr8:105561425 [GRCh38]
Chr8:106573653 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1400dup (p.Tyr467Ter) duplication not provided [RCV000598673] Chr8:105801481..105801482 [GRCh38]
Chr8:106813709..106813710 [GRCh37]
Chr8:8q23.1
likely pathogenic
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) single nucleotide variant 46,XY sex reversal 9 [RCV000533424] Chr8:105802228 [GRCh38]
Chr8:106814456 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) single nucleotide variant 46,XY sex reversal 9 [RCV000471512] Chr8:105798806 [GRCh38]
Chr8:106811034 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) single nucleotide variant 46,XY sex reversal 9 [RCV000464502] Chr8:105803246 [GRCh38]
Chr8:106815474 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000476456] Chr8:105802369 [GRCh38]
Chr8:106814597 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=) single nucleotide variant not provided [RCV000457719] Chr8:105801246 [GRCh38]
Chr8:106813474 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.965-9TC[2] microsatellite 46,XY sex reversal 9 [RCV000462010] Chr8:105801038..105801039 [GRCh38]
Chr8:106813266..106813267 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) single nucleotide variant 46,XY sex reversal 9 [RCV000469606] Chr8:105803376 [GRCh38]
Chr8:106815604 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) single nucleotide variant 46,XY sex reversal 9 [RCV000469703] Chr8:105803451 [GRCh38]
Chr8:106815679 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q22.3-23.1(chr8:106058743-106717749)x3 copy number gain See cases [RCV000510140] Chr8:106058743..106717749 [GRCh37]
Chr8:8q22.3-23.1
uncertain significance
GRCh37/hg19 8q22.3-23.1(chr8:105388734-106601051)x3 copy number gain See cases [RCV000510148] Chr8:105388734..106601051 [GRCh37]
Chr8:8q22.3-23.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:106377557-107502955)x3 copy number gain See cases [RCV000511608] Chr8:106377557..107502955 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_012082.4(ZFPM2):c.1366A>T (p.Ile456Leu) single nucleotide variant not provided [RCV000596322] Chr8:105801448 [GRCh38]
Chr8:106813676 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) single nucleotide variant 46,XY sex reversal 9 [RCV000558571] Chr8:105803416 [GRCh38]
Chr8:106815644 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) single nucleotide variant 46,XY sex reversal 9 [RCV000655307] Chr8:105801953 [GRCh38]
Chr8:106814181 [GRCh37]
Chr8:8q23.1
likely benign|uncertain significance
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000655308] Chr8:105803168 [GRCh38]
Chr8:106815396 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) single nucleotide variant 46,XY sex reversal 9 [RCV000655309] Chr8:105444320 [GRCh38]
Chr8:106456548 [GRCh37]
Chr8:8q23.1
likely benign|uncertain significance
NM_012082.4(ZFPM2):c.41-4C>A single nucleotide variant 46,XY sex reversal 9 [RCV000655310] Chr8:105419140 [GRCh38]
Chr8:106431368 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) single nucleotide variant 46,XY sex reversal 9 [RCV000655311] Chr8:105801309 [GRCh38]
Chr8:106813537 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) single nucleotide variant 46,XY sex reversal 9 [RCV000655312] Chr8:105801660 [GRCh38]
Chr8:106813888 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) single nucleotide variant 46,XY sex reversal 9 [RCV000655313] Chr8:105801358 [GRCh38]
Chr8:106813586 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.533-4A>T single nucleotide variant 46,XY sex reversal 9 [RCV000655314] Chr8:105788714 [GRCh38]
Chr8:106800942 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) single nucleotide variant 46,XY sex reversal 9 [RCV000655315] Chr8:105802583 [GRCh38]
Chr8:106814811 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) single nucleotide variant 46,XY sex reversal 9 [RCV000705620]|Tetralogy of Fallot [RCV000678773] Chr8:105801400 [GRCh38]
Chr8:106813628 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) single nucleotide variant 46,XY sex reversal 9 [RCV000701785] Chr8:105802733 [GRCh38]
Chr8:106814961 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) single nucleotide variant 46,XY sex reversal 9 [RCV000701895] Chr8:105802466 [GRCh38]
Chr8:106814694 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:106385049-107502130)x3 copy number gain not provided [RCV000747752] Chr8:106385049..107502130 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q23.1(chr8:106787935-106797275)x0 copy number loss not provided [RCV000747753] Chr8:106787935..106797275 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q23.1(chr8:106796540-106797275)x1 copy number loss not provided [RCV000747754] Chr8:106796540..106797275 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q23.1(chr8:106796540-106798675)x0 copy number loss not provided [RCV000747755] Chr8:106796540..106798675 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=) single nucleotide variant not provided [RCV000869504] Chr8:105801723 [GRCh38]
Chr8:106813951 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.27C>G (p.Pro9=) single nucleotide variant not provided [RCV000862467] Chr8:105318968 [GRCh38]
Chr8:106331196 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) single nucleotide variant 46,XY sex reversal 9 [RCV000862684] Chr8:105444365 [GRCh38]
Chr8:106456593 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) single nucleotide variant not provided [RCV000883154] Chr8:105801087 [GRCh38]
Chr8:106813315 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.301+9G>T single nucleotide variant not provided [RCV000925670] Chr8:105444390 [GRCh38]
Chr8:106456618 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.57C>T (p.Ala19=) single nucleotide variant not provided [RCV000866458] Chr8:105419160 [GRCh38]
Chr8:106431388 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2616C>T (p.His872=) single nucleotide variant not provided [RCV000869376] Chr8:105802698 [GRCh38]
Chr8:106814926 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.740-4G>T single nucleotide variant not provided [RCV000868816] Chr8:105798720 [GRCh38]
Chr8:106810948 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=) single nucleotide variant not provided [RCV000976839] Chr8:105802800 [GRCh38]
Chr8:106815028 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2728G>A (p.Glu910Lys) single nucleotide variant not provided [RCV000868463] Chr8:105802810 [GRCh38]
Chr8:106815038 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=) single nucleotide variant not provided [RCV000864043] Chr8:105802572 [GRCh38]
Chr8:106814800 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=) single nucleotide variant not provided [RCV000865499] Chr8:105802344 [GRCh38]
Chr8:106814572 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) single nucleotide variant 46,XY sex reversal 9 [RCV000817308] Chr8:105801292 [GRCh38]
Chr8:106813520 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) single nucleotide variant 46,XY sex reversal 9 [RCV000803722] Chr8:105802288 [GRCh38]
Chr8:106814516 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) single nucleotide variant 46,XY sex reversal 9 [RCV000817654] Chr8:105801518 [GRCh38]
Chr8:106813746 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) single nucleotide variant 46,XY sex reversal 9 [RCV000791543] Chr8:105803051 [GRCh38]
Chr8:106815279 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) single nucleotide variant Diaphragmatic hernia 3 [RCV000782368] Chr8:105419233 [GRCh38]
Chr8:106431461 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) single nucleotide variant Diaphragmatic hernia 3 [RCV000782369] Chr8:105801250 [GRCh38]
Chr8:106813478 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) single nucleotide variant 46,XY sex reversal 9 [RCV000798330] Chr8:105801356 [GRCh38]
Chr8:106813584 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) single nucleotide variant 46,XY sex reversal 9 [RCV000862357] Chr8:105801651 [GRCh38]
Chr8:106813879 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) single nucleotide variant 46,XY sex reversal 9 [RCV000802116] Chr8:105802382 [GRCh38]
Chr8:106814610 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) single nucleotide variant not provided [RCV000861888] Chr8:105801097 [GRCh38]
Chr8:106813325 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) single nucleotide variant 46,XY sex reversal 9 [RCV000798220] Chr8:105801971 [GRCh38]
Chr8:106814199 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q23.1(chr8:106353836-107257928)x3 copy number gain not provided [RCV000849345] Chr8:106353836..107257928 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) single nucleotide variant 46,XY sex reversal 9 [RCV001225784] Chr8:105802732 [GRCh38]
Chr8:106814960 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) single nucleotide variant 46,XY sex reversal 9 [RCV001212216] Chr8:105634288 [GRCh38]
Chr8:106646516 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs) duplication Tetralogy of Fallot [RCV001197971] Chr8:105803350..105803351 [GRCh38]
Chr8:106815578..106815579 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) single nucleotide variant 46,XY sex reversal 9 [RCV000862743] Chr8:105788864 [GRCh38]
Chr8:106801092 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=) single nucleotide variant not provided [RCV000870710] Chr8:105801096 [GRCh38]
Chr8:106813324 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) single nucleotide variant 46,XY sex reversal 9 [RCV000864237] Chr8:105798830 [GRCh38]
Chr8:106811058 [GRCh37]
Chr8:8q23.1
likely benign
NM_012082.4(ZFPM2):c.2097C>T (p.His699=) single nucleotide variant 46,XY sex reversal 9 [RCV000861906] Chr8:105802179 [GRCh38]
Chr8:106814407 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) single nucleotide variant 46,XY sex reversal 9 [RCV001238753] Chr8:105802201 [GRCh38]
Chr8:106814429 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) single nucleotide variant 46,XY sex reversal 9 [RCV001243951] Chr8:105803065 [GRCh38]
Chr8:106815293 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2382_2383insA (p.Val795fs) insertion not provided [RCV001008616] Chr8:105802464..105802465 [GRCh38]
Chr8:106814692..106814693 [GRCh37]
Chr8:8q23.1
likely pathogenic
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007697] Chr8:105801694 [GRCh38]
Chr8:106813922 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007703] Chr8:105801852 [GRCh38]
Chr8:106814080 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) deletion 46,XY sex reversal, type 3 [RCV001007704] Chr8:105801898..105801900 [GRCh38]
Chr8:106814126..106814128 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007698] Chr8:105801337 [GRCh38]
Chr8:106813565 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) single nucleotide variant 46,XY sex reversal, type 3 [RCV001007701] Chr8:105801085 [GRCh38]
Chr8:106813313 [GRCh37]
Chr8:8q23.1
benign
NM_012082.4(ZFPM2):c.1303G>C (p.Asp435His) single nucleotide variant not provided [RCV001091701] Chr8:105801385 [GRCh38]
Chr8:106813613 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) single nucleotide variant 46,XY sex reversal 9 [RCV001071239] Chr8:105803012 [GRCh38]
Chr8:106815240 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) single nucleotide variant 46,XY sex reversal 9 [RCV001215425] Chr8:105803017 [GRCh38]
Chr8:106815245 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.993del (p.Gly332fs) deletion not provided [RCV001008444] Chr8:105801075 [GRCh38]
Chr8:106813303 [GRCh37]
Chr8:8q23.1
likely pathogenic
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) single nucleotide variant 46,XY sex reversal 9 [RCV001063029] Chr8:105788802 [GRCh38]
Chr8:106801030 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn) single nucleotide variant Diaphragmatic hernia 3 [RCV001262754] Chr8:105803417 [GRCh38]
Chr8:106815645 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) single nucleotide variant 46,XY sex reversal 9 [RCV001306233] Chr8:105788849 [GRCh38]
Chr8:106801077 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) single nucleotide variant 46,XY sex reversal 9 [RCV001351220] Chr8:105801803 [GRCh38]
Chr8:106814031 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) single nucleotide variant 46,XY sex reversal 9 [RCV001317970] Chr8:105802985 [GRCh38]
Chr8:106815213 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) single nucleotide variant 46,XY sex reversal 9 [RCV001325942] Chr8:105802715 [GRCh38]
Chr8:106814943 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) single nucleotide variant 46,XY sex reversal 9 [RCV001343743] Chr8:105801948 [GRCh38]
Chr8:106814176 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs) duplication Diaphragmatic hernia 3 [RCV001269308] Chr8:105801475..105801476 [GRCh38]
Chr8:106813703..106813704 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) single nucleotide variant 46,XY sex reversal 9 [RCV001325678] Chr8:105802675 [GRCh38]
Chr8:106814903 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His) single nucleotide variant Tetralogy of Fallot [RCV001331730] Chr8:105802283 [GRCh38]
Chr8:106814511 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) single nucleotide variant 46,XY sex reversal 9 [RCV001344672] Chr8:105803243 [GRCh38]
Chr8:106815471 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs) duplication Diaphragmatic hernia 3 [RCV001269307] Chr8:105798739..105798740 [GRCh38]
Chr8:106810967..106810968 [GRCh37]
Chr8:8q23.1
pathogenic
NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr) single nucleotide variant Tetralogy of Fallot [RCV001331729] Chr8:105801128 [GRCh38]
Chr8:106813356 [GRCh37]
Chr8:8q23.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16700 AgrOrtholog
COSMIC ZFPM2 COSMIC
Ensembl Genes ENSG00000169946 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000384179 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428149 UniProtKB/TrEMBL
  ENSP00000428720 UniProtKB/TrEMBL
  ENSP00000430757 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000407775 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517361 UniProtKB/TrEMBL
  ENST00000520027 UniProtKB/TrEMBL
  ENST00000520492 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000169946 GTEx
HGNC ID HGNC:16700 ENTREZGENE
Human Proteome Map ZFPM2 Human Proteome Map
InterPro FOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_CCHC_FOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23414 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23414 ENTREZGENE
OMIM 187500 OMIM
  603693 OMIM
  610187 OMIM
  616067 OMIM
PANTHER PTHR12958 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134947303 PharmGKB
PROSITE ZF_CCHC_FOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RJX0_HUMAN UniProtKB/TrEMBL
  E7ET52_HUMAN UniProtKB/TrEMBL
  FOG2_HUMAN UniProtKB/Swiss-Prot
  Q32MA5_HUMAN UniProtKB/TrEMBL
  Q8WW38 ENTREZGENE
  Q9NPQ0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q32MA6 UniProtKB/Swiss-Prot
  Q9NPL7 UniProtKB/Swiss-Prot
  Q9NPS4 UniProtKB/Swiss-Prot
  Q9UNI5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-04 ZFPM2  zinc finger protein, FOG family member 2    zinc finger protein, multitype 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 ZFPM2  zinc finger protein, multitype 2  ZFPM2  zinc finger protein, multitype 2  Symbol and/or name change 5135510 APPROVED