Imported Annotations - OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Oocyte Maturation Defect 6 | IAGP | 7240710 | OMIM |



![]() |
Create Name: | |
Description: |
![]() |
Save what matters to you |
{{ loginError }} |
Sign in with your RGD account |
Create New Account | Recover Password |
Analyze GeneStrainQTL List |
![]() Gene Annotator (Functional Annotation) unavailable |
![]() Gene Annotator (Annotation Distribution) unavailable |
![]() Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
![]() InterViewer (Protein-Protein Interactions) unavailable |
![]() Gviewer (Genome Viewer) unavailable |
![]() Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
![]() Gene Annotator (Annotation Comparison) unavailable |
![]() OLGA (Gene List Generator) unavailable |
![]() |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
![]() MOET (Multi-Ontology Enrichement) unavailable |
![]() GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Oocyte Maturation Defect 6 | IAGP | 7240710 | OMIM |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 8385033 10493829 10570015 10864856 10924747 11739644 11751269 11784014 11804956 11854410 11940668 12477932 12852850 14511786 15489334 15950651 16407501 17474147 18033806 20394732 22472438 22889493 23355646 23417405 24934154 26879157 28646452 28886344 29895852 30810869 |
ZP2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Zp2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Zp2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Zp2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ZP2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ZP2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Zp2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ZP2 (Sus scrofa - pig) |
|
G67892 |
|
||||||||||||||||||||||||||||||||||||||||
RH71391 |
|
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. |
RefSeq Transcripts | NM_001290104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001376231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001376232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001376233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_164788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011545942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001751977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF001550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK293805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK308820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK310454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC096307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M90366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001290104 ⟹ NP_001277033 | ||||||||||||||
RefSeq Status: | |||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
|
||||||||||||||
Sequence: |
GTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTCATTGTTCAGCTCCCACTTATAAGTGAGAAhide sequence |
RefSeq Acc Id: | NM_003460 ⟹ NP_003451 | |||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
|
|||||||||||||||||||||||||||||
Sequence: |
GTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTCATTGTTCAGCTCCCACTTATAAGTGAGAAhide sequence |
RefSeq Acc Id: | XM_011545942 ⟹ XP_011544244 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
|
|||||||||
Sequence: |
CTGGCAGAATACCCGGCGCAAGCTGTCAGGAATCAGAGGCCACTTCCTTCCCCAATCCTTCCGThide sequence |
RefSeq Acc Id: | XR_001751977 | |||||||||
RefSeq Status: | ||||||||||
Type: | NON-CODING | |||||||||
Position: |
|
|||||||||
Sequence: |
CTGGCAGAATACCCGGCGCAAGCTGTCAGGAATCAGAGGCCACTTCCTTCCCCAATCCTTCCGThide sequence |
Protein RefSeqs | NP_001277033 | (Get FASTA) | NCBI Sequence Viewer |
NP_001363160 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001363161 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001363162 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003451 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011544244 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA61335 | (Get FASTA) | NCBI Sequence Viewer |
AAB67599 | (Get FASTA) | NCBI Sequence Viewer | |
AAH96304 | (Get FASTA) | NCBI Sequence Viewer | |
AAH96305 | (Get FASTA) | NCBI Sequence Viewer | |
AAH96306 | (Get FASTA) | NCBI Sequence Viewer | |
AAH96307 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35839 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57212 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66859 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66860 | (Get FASTA) | NCBI Sequence Viewer | |
Q05996 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003451 ⟸ NM_003460 |
- Peptide Label: | isoform 1 preproprotein |
- UniProtKB: | Q05996 (UniProtKB/Swiss-Prot) |
- Sequence: |
MACRQRGGSWSPSGWFNAGWSTYRSISLFFALVTSGNSIDVSQLVNPAFPGTVTCDEREITVEFhide sequence |
RefSeq Acc Id: | NP_001277033 ⟸ NM_001290104 |
- Peptide Label: | isoform 2 preproprotein |
- Sequence: |
MACRQRGGSWSPSGWFNAGWSTYRSISLFFALVTSGNSIDVSQLVNPAFPGTVTCDEREITVEFhide sequence |
RefSeq Acc Id: | XP_011544244 ⟸ XM_011545942 |
- Peptide Label: | isoform X1 |
- Sequence: |
MGQDSGAPNGERVWMRLASCYKNTEQPTLYLVDLVVSSAMACRQRGGSWSPSGWFNAGWSTYRShide sequence |
RGD ID: | 7231555 | |||||||||
Promoter ID: | EPDNEW_H21523 | |||||||||
Type: | multiple initiation site | |||||||||
Name: | ZP2_1 | |||||||||
Description: | zona pellucida glycoprotein 2 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 | copy number gain | Nonsyndromic microcephaly [RCV000051828]|See cases [RCV000051828] | Chr16:14954894..28306843 [GRCh38] Chr16:15048751..28318164 [GRCh37] Chr16:14956252..28225665 [NCBI36] Chr16:16p13.11-12.1 |
pathogenic |
NM_003460.2(ZP2):c.1955T>G (p.Met652Arg) | single nucleotide variant | Malignant melanoma [RCV000071031] | Chr16:21198835 [GRCh38] Chr16:21210156 [GRCh37] Chr16:21117657 [NCBI36] Chr16:16p12.3 |
not provided |
NM_003460.2(ZP2):c.1318G>A (p.Glu440Lys) | single nucleotide variant | Malignant melanoma [RCV000071032] | Chr16:21201993 [GRCh38] Chr16:21213314 [GRCh37] Chr16:21120815 [NCBI36] Chr16:16p12.2 |
not provided |
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 | copy number gain | See cases [RCV000133809] | Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2 |
pathogenic |
GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1 | copy number loss | See cases [RCV000139900] | Chr16:20408020..21244474 [GRCh38] Chr16:20419342..21255795 [GRCh37] Chr16:20326843..21163296 [NCBI36] Chr16:16p12.3-12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 | copy number gain | See cases [RCV000203445] | Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 | copy number gain | Ductal breast carcinoma [RCV000207226] | Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 | copy number gain | Ductal breast carcinoma [RCV000207053] | Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 | copy number gain | See cases [RCV000449403] | Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)x3 | copy number gain | See cases [RCV000447220] | Chr16:20258837..21405328 [GRCh37] Chr16:16p12.3-12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 | copy number gain | See cases [RCV000511622] | Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 | copy number gain | See cases [RCV000511360] | Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 | copy number gain | See cases [RCV000512428] | Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_003460.2(ZP2):c.1695-2A>G | single nucleotide variant | OOCYTE MATURATION DEFECT 6 [RCV000758705] | Chr16:21199880 [GRCh38] Chr16:21211201 [GRCh37] Chr16:16p12.3 |
pathogenic |
NM_003460.2(ZP2):c.1691_1694dup (p.Cys566fs) | duplication | OOCYTE MATURATION DEFECT 6 [RCV000758706] | Chr16:21201369..21201372 [GRCh38] Chr16:21212690..21212693 [GRCh37] Chr16:16p12.2 |
pathogenic |
GRCh37/hg19 16p12.3-12.2(chr16:20860025-21334650)x3 | copy number gain | not provided [RCV000848193] | Chr16:20860025..21334650 [GRCh37] Chr16:16p12.3-12.2 |
uncertain significance |
NM_003460.2(ZP2):c.1115G>C (p.Cys372Ser) | single nucleotide variant | OOCYTE MATURATION DEFECT 6 [RCV000850116] | Chr16:21202276 [GRCh38] Chr16:21213597 [GRCh37] Chr16:16p12.2 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:13188 | AgrOrtholog |
COSMIC | ZP2 | COSMIC |
Ensembl Genes | ENSG00000103310 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000284588 | UniProtKB/Swiss-Prot | |
Ensembl Protein | ENSP00000458991 | UniProtKB/Swiss-Prot |
ENSP00000460971 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000491583 | UniProtKB/Swiss-Prot | |
ENSP00000492703 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000574002 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000574091 | UniProtKB/Swiss-Prot | |
ENST00000638300 | UniProtKB/Swiss-Prot | |
ENST00000640487 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000103310 | GTEx |
ENSG00000284588 | GTEx | |
HGNC ID | HGNC:13188 | ENTREZGENE |
Human Proteome Map | ZP2 | Human Proteome Map |
InterPro | ZP_dom | UniProtKB/Swiss-Prot |
ZP_dom_CS | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:7783 | UniProtKB/Swiss-Prot |
NCBI Gene | 7783 | ENTREZGENE |
OMIM | 182888 | OMIM |
618353 | OMIM | |
Pfam | Zona_pellucida | UniProtKB/Swiss-Prot |
PharmGKB | PA37756 | PharmGKB |
PRINTS | ZPELLUCIDA | UniProtKB/Swiss-Prot |
PROSITE | ZP_1 | UniProtKB/Swiss-Prot |
ZP_2 | UniProtKB/Swiss-Prot | |
SMART | SM00241 | UniProtKB/Swiss-Prot |
UniGene | Hs.73982 | ENTREZGENE |
UniProt | Q05996 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | B2R7J2 | UniProtKB/Swiss-Prot |
Q4VAN9 | UniProtKB/Swiss-Prot | |
Q4VAP0 | UniProtKB/Swiss-Prot | |
Q4VAP1 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-04 | ZP2 | zona pellucida glycoprotein 2 | zona pellucida glycoprotein 2 (sperm receptor) | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-17 | ZP2 | zona pellucida glycoprotein 2 (sperm receptor) | ZP2 | zona pellucida glycoprotein 2 (sperm receptor) | Symbol and/or name change | 5135510 | APPROVED |
![]() |
More on ZP2 | |
![]() |
Alliance Gene |
![]() |
NCBI Gene |
![]() |
Ensembl Gene |
![]() |
JBrowse: hg19 hg38 |
![]() |
HGNC Report |
![]() |
NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 735363 |
Created: | 2004-02-06 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
![]() |
![]() |
![]() |
![]() |
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.