ZP2 (zona pellucida glycoprotein 2) - Rat Genome Database

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Gene: ZP2 (zona pellucida glycoprotein 2) Homo sapiens
Analyze
Symbol: ZP2
Name: zona pellucida glycoprotein 2
RGD ID: 735363
HGNC Page HGNC:13188
Description: Enables acrosin binding activity and identical protein binding activity. A structural constituent of egg coat. Predicted to be involved in binding activity of sperm to zona pellucida; humoral immune response mediated by circulating immunoglobulin; and prevention of polyspermy. Located in egg coat.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: OOMD6; OZEMA6; zona pellucida 2; zona pellucida glycoprotein 2 (sperm receptor); zona pellucida glycoprotein ZP2; zona pellucida protein A; zona pellucida sperm-binding protein 2; Zp-2; ZPA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381621,197,450 - 21,214,510 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1621,197,450 - 21,214,510 (-)EnsemblGRCh38hg38GRCh38
GRCh371621,208,771 - 21,225,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361621,116,274 - 21,130,369 (-)NCBINCBI36Build 36hg18NCBI36
Build 341621,116,273 - 21,130,369NCBI
Celera1620,518,619 - 20,532,706 (-)NCBICelera
Cytogenetic Map16p12.3-p12.2NCBI
HuRef1619,743,981 - 19,758,073 (-)NCBIHuRef
CHM1_11621,296,024 - 21,310,120 (-)NCBICHM1_1
T2T-CHM13v2.01621,128,399 - 21,145,450 (-)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8385033   PMID:10493829   PMID:10570015   PMID:10864856   PMID:10924747   PMID:11739644   PMID:11751269   PMID:11784014   PMID:11804956   PMID:11854410   PMID:11940668   PMID:12477932  
PMID:12852850   PMID:14511786   PMID:15489334   PMID:15950651   PMID:16407501   PMID:17474147   PMID:18033806   PMID:20394732   PMID:21873635   PMID:22472438   PMID:22889493   PMID:23355646  
PMID:23417405   PMID:24934154   PMID:26879157   PMID:28646452   PMID:28886344   PMID:29895852   PMID:30810869   PMID:32569527   PMID:32829425   PMID:33604805   PMID:33961781   PMID:35211729  
PMID:35366744   PMID:35595959   PMID:36931917   PMID:38490181  


Genomics

Comparative Map Data
ZP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381621,197,450 - 21,214,510 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1621,197,450 - 21,214,510 (-)EnsemblGRCh38hg38GRCh38
GRCh371621,208,771 - 21,225,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361621,116,274 - 21,130,369 (-)NCBINCBI36Build 36hg18NCBI36
Build 341621,116,273 - 21,130,369NCBI
Celera1620,518,619 - 20,532,706 (-)NCBICelera
Cytogenetic Map16p12.3-p12.2NCBI
HuRef1619,743,981 - 19,758,073 (-)NCBIHuRef
CHM1_11621,296,024 - 21,310,120 (-)NCBICHM1_1
T2T-CHM13v2.01621,128,399 - 21,145,450 (-)NCBIT2T-CHM13v2.0
Zp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397119,725,985 - 119,744,514 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7119,725,995 - 119,744,514 (-)EnsemblGRCm39 Ensembl
GRCm387120,126,762 - 120,145,291 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7120,126,772 - 120,145,291 (-)EnsemblGRCm38mm10GRCm38
MGSCv377127,275,875 - 127,288,804 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367119,923,510 - 119,936,439 (-)NCBIMGSCv36mm8
Celera7120,041,987 - 120,054,607 (-)NCBICelera
Cytogenetic Map7F2NCBI
cM Map764.38NCBI
Zp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81183,944,840 - 183,956,619 (-)NCBIGRCr8
mRatBN7.21174,513,507 - 174,525,288 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1174,513,511 - 174,525,288 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1182,831,061 - 182,842,857 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01190,017,103 - 190,028,901 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01182,751,032 - 182,762,847 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01189,899,906 - 189,911,650 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1189,899,892 - 189,911,650 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01196,829,189 - 196,840,820 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1172,263,179 - 172,274,910 (-)NCBICelera
Cytogenetic Map1q36NCBI
Zp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955493400,868 - 412,596 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955493400,868 - 412,660 (-)NCBIChiLan1.0ChiLan1.0
ZP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21822,365,697 - 22,380,566 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11626,886,199 - 26,901,082 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01617,193,632 - 17,210,667 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11621,227,285 - 21,244,316 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1621,227,285 - 21,244,316 (-)Ensemblpanpan1.1panPan2
ZP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1624,230,202 - 24,242,441 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl624,230,201 - 24,242,451 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha625,667,939 - 25,680,181 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0624,381,539 - 24,393,787 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl624,381,539 - 24,393,797 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1624,184,937 - 24,197,176 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0624,078,588 - 24,090,826 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0624,463,951 - 24,476,253 (+)NCBIUU_Cfam_GSD_1.0
Zp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344118,296,926 - 118,311,637 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365016,394,838 - 6,407,442 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365016,394,838 - 6,407,512 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl324,863,730 - 24,877,522 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1324,863,730 - 24,877,522 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2325,665,412 - 25,679,349 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1519,318,026 - 19,338,966 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl519,319,034 - 19,338,495 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606810,543,555 - 10,560,816 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247827,275,207 - 7,287,114 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247827,275,156 - 7,287,480 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZP2
65 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain 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 Breast ductal adenocarcinoma [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 Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_001376232.1(ZP2):c.1090G>A (p.Val364Ile) single nucleotide variant not provided [RCV003312335]|not specified [RCV004604933] Chr16:21203134 [GRCh38]
Chr16:21214455 [GRCh37]
Chr16:16p12.2		 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
NM_001376232.1(ZP2):c.547G>C (p.Gly183Arg) single nucleotide variant not specified [RCV004293315] Chr16:21205566 [GRCh38]
Chr16:21216887 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.656A>G (p.His219Arg) single nucleotide variant not specified [RCV004291114] Chr16:21205457 [GRCh38]
Chr16:21216778 [GRCh37]
Chr16:16p12.2		 uncertain significance
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
NM_001376232.1(ZP2):c.1666T>A (p.Phe556Ile) single nucleotide variant not specified [RCV004298240] Chr16:21201397 [GRCh38]
Chr16:21212718 [GRCh37]
Chr16:16p12.2		 uncertain significance
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_001376232.1(ZP2):c.2011+8C>T single nucleotide variant not provided [RCV000879877] Chr16:21198771 [GRCh38]
Chr16:21210092 [GRCh37]
Chr16:16p12.3		 benign
NM_001376232.1(ZP2):c.495A>C (p.Pro165=) single nucleotide variant ZP2-related disorder [RCV003920558]|not provided [RCV000881903] Chr16:21205764 [GRCh38]
Chr16:21217085 [GRCh37]
Chr16:16p12.2		 benign
NM_001376232.1(ZP2):c.1695-2A>G single nucleotide variant Oocyte maturation defect 6 [RCV000758705] Chr16:21199880 [GRCh38]
Chr16:21211201 [GRCh37]
Chr16:16p12.3		 pathogenic
NM_001376232.1(ZP2):c.1691_1694dup (p.Cys566fs) duplication Oocyte maturation defect 6 [RCV000758706] Chr16:21201368..21201369 [GRCh38]
Chr16:21212689..21212690 [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_001376232.1(ZP2):c.1115G>C (p.Cys372Ser) single nucleotide variant Oocyte maturation defect 6 [RCV000850116] Chr16:21202276 [GRCh38]
Chr16:21213597 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001376232.1(ZP2):c.460A>G (p.Ile154Val) single nucleotide variant ZP2-related disorder [RCV003920670]|not provided [RCV000887043] Chr16:21206861 [GRCh38]
Chr16:21218182 [GRCh37]
Chr16:16p12.2		 benign
NM_001376232.1(ZP2):c.222T>A (p.His74Gln) single nucleotide variant not provided [RCV000957390] Chr16:21210122 [GRCh38]
Chr16:21221443 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.1536C>T (p.Asn512=) single nucleotide variant not provided [RCV000957389] Chr16:21201527 [GRCh38]
Chr16:21212848 [GRCh37]
Chr16:16p12.2		 benign|likely benign
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_001376232.1(ZP2):c.278A>G (p.Asp93Gly) single nucleotide variant not provided [RCV001354125] Chr16:21209683 [GRCh38]
Chr16:21221004 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328) copy number gain not specified [RCV002052524] Chr16:20258837..21405328 [GRCh37]
Chr16:16p12.3-12.2		 uncertain significance
NM_001376232.1(ZP2):c.151+1G>A single nucleotide variant Oocyte maturation defect 6 [RCV002467398] Chr16:21211306 [GRCh38]
Chr16:21222627 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001376232.1(ZP2):c.715A>G (p.Met239Val) single nucleotide variant not specified [RCV004193807] Chr16:21204383 [GRCh38]
Chr16:21215704 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1658C>T (p.Pro553Leu) single nucleotide variant not specified [RCV004198875] Chr16:21201405 [GRCh38]
Chr16:21212726 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1487T>G (p.Ile496Ser) single nucleotide variant not specified [RCV004151897] Chr16:21201723 [GRCh38]
Chr16:21213044 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1141G>A (p.Glu381Lys) single nucleotide variant not specified [RCV004084868] Chr16:21202250 [GRCh38]
Chr16:21213571 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1291G>A (p.Glu431Lys) single nucleotide variant not specified [RCV004224282] Chr16:21202020 [GRCh38]
Chr16:21213341 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.1246C>T (p.Arg416Trp) single nucleotide variant not specified [RCV004205729] Chr16:21202145 [GRCh38]
Chr16:21213466 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.2228C>T (p.Ser743Leu) single nucleotide variant not specified [RCV004239914] Chr16:21197490 [GRCh38]
Chr16:21208811 [GRCh37]
Chr16:16p12.3		 likely benign
NM_001376232.1(ZP2):c.580G>A (p.Ala194Thr) single nucleotide variant not specified [RCV004247086] Chr16:21205533 [GRCh38]
Chr16:21216854 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1862A>C (p.Asn621Thr) single nucleotide variant not specified [RCV004091867] Chr16:21199635 [GRCh38]
Chr16:21210956 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.1247G>A (p.Arg416Gln) single nucleotide variant not specified [RCV004216295] Chr16:21202144 [GRCh38]
Chr16:21213465 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1306G>A (p.Val436Ile) single nucleotide variant not specified [RCV004199963] Chr16:21202005 [GRCh38]
Chr16:21213326 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.74C>G (p.Ser25Trp) single nucleotide variant not provided [RCV003886610]|not specified [RCV004220951] Chr16:21211384 [GRCh38]
Chr16:21222705 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1814A>C (p.His605Pro) single nucleotide variant not specified [RCV004161421] Chr16:21199759 [GRCh38]
Chr16:21211080 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.1123G>A (p.Asp375Asn) single nucleotide variant not specified [RCV004101170] Chr16:21202268 [GRCh38]
Chr16:21213589 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1741G>A (p.Gly581Ser) single nucleotide variant not specified [RCV004111753] Chr16:21199832 [GRCh38]
Chr16:21211153 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004234711] Chr16:21211543 [GRCh38]
Chr16:21222864 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.2000C>T (p.Ser667Phe) single nucleotide variant not specified [RCV004149152] Chr16:21198790 [GRCh38]
Chr16:21210111 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.221A>G (p.His74Arg) single nucleotide variant not specified [RCV004173850] Chr16:21210123 [GRCh38]
Chr16:21221444 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.970A>G (p.Lys324Glu) single nucleotide variant not specified [RCV004075591] Chr16:21204032 [GRCh38]
Chr16:21215353 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1816G>A (p.Val606Met) single nucleotide variant not specified [RCV004191188] Chr16:21199757 [GRCh38]
Chr16:21211078 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.2102T>C (p.Met701Thr) single nucleotide variant not specified [RCV004098426] Chr16:21197616 [GRCh38]
Chr16:21208937 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.1475C>T (p.Pro492Leu) single nucleotide variant not specified [RCV004133573] Chr16:21201735 [GRCh38]
Chr16:21213056 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.425A>G (p.Gln142Arg) single nucleotide variant not specified [RCV004224612] Chr16:21206896 [GRCh38]
Chr16:21218217 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.272T>A (p.Ile91Asn) single nucleotide variant not specified [RCV004261979] Chr16:21209689 [GRCh38]
Chr16:21221010 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1780G>C (p.Asp594His) single nucleotide variant not specified [RCV004270934] Chr16:21199793 [GRCh38]
Chr16:21211114 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.688T>C (p.Tyr230His) single nucleotide variant not specified [RCV004275142] Chr16:21205425 [GRCh38]
Chr16:21216746 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.557T>C (p.Ile186Thr) single nucleotide variant not specified [RCV004264022] Chr16:21205556 [GRCh38]
Chr16:21216877 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1140C>T (p.Val380=) single nucleotide variant not provided [RCV003222863] Chr16:21202251 [GRCh38]
Chr16:21213572 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.2077G>A (p.Glu693Lys) single nucleotide variant not specified [RCV004279276] Chr16:21197784 [GRCh38]
Chr16:21209105 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.538G>T (p.Val180Phe) single nucleotide variant not specified [RCV004279688] Chr16:21205575 [GRCh38]
Chr16:21216896 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.720G>A (p.Val240=) single nucleotide variant not provided [RCV003411288] Chr16:21204378 [GRCh38]
Chr16:21215699 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.1103C>T (p.Thr368Ile) single nucleotide variant not specified [RCV004487571] Chr16:21202288 [GRCh38]
Chr16:21213609 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1999T>G (p.Ser667Ala) single nucleotide variant not specified [RCV004487572] Chr16:21198791 [GRCh38]
Chr16:21210112 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.2146G>A (p.Ala716Thr) single nucleotide variant not specified [RCV004487574] Chr16:21197572 [GRCh38]
Chr16:21208893 [GRCh37]
Chr16:16p12.3		 likely benign
NM_001376232.1(ZP2):c.2180T>C (p.Val727Ala) single nucleotide variant not specified [RCV004487575] Chr16:21197538 [GRCh38]
Chr16:21208859 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.397A>G (p.Met133Val) single nucleotide variant not specified [RCV004487579] Chr16:21206924 [GRCh38]
Chr16:21218245 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.92C>T (p.Ala31Val) single nucleotide variant not specified [RCV004487582] Chr16:21211366 [GRCh38]
Chr16:21222687 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.107G>T (p.Gly36Val) single nucleotide variant ZP2-related disorder [RCV003982040] Chr16:21211351 [GRCh38]
Chr16:21222672 [GRCh37]
Chr16:16p12.2		 benign
NM_001376232.1(ZP2):c.22G>A (p.Gly8Ser) single nucleotide variant not specified [RCV004487576] Chr16:21211526 [GRCh38]
Chr16:21222847 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.907G>A (p.Gly303Arg) single nucleotide variant not specified [RCV004487580] Chr16:21204095 [GRCh38]
Chr16:21215416 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.337G>A (p.Gly113Arg) single nucleotide variant not specified [RCV004487577] Chr16:21206984 [GRCh38]
Chr16:21218305 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.-9T>C single nucleotide variant ZP2-related disorder [RCV003931525] Chr16:21211556 [GRCh38]
Chr16:21222877 [GRCh37]
Chr16:16p12.2		 benign
NM_001376232.1(ZP2):c.1099+9C>A single nucleotide variant ZP2-related disorder [RCV003929428] Chr16:21203116 [GRCh38]
Chr16:21214437 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.1815C>T (p.His605=) single nucleotide variant ZP2-related disorder [RCV003922207] Chr16:21199758 [GRCh38]
Chr16:21211079 [GRCh37]
Chr16:16p12.3		 likely benign
NM_001376232.1(ZP2):c.2096-5dup duplication ZP2-related disorder [RCV003957278] Chr16:21197626..21197627 [GRCh38]
Chr16:21208947..21208948 [GRCh37]
Chr16:16p12.3		 likely benign
NM_001376232.1(ZP2):c.152-6C>T single nucleotide variant ZP2-related disorder [RCV003914671] Chr16:21210198 [GRCh38]
Chr16:21221519 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.1100-9G>A single nucleotide variant ZP2-related disorder [RCV003926822] Chr16:21202300 [GRCh38]
Chr16:21213621 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.519C>T (p.Asp173=) single nucleotide variant ZP2-related disorder [RCV003967351] Chr16:21205740 [GRCh38]
Chr16:21217061 [GRCh37]
Chr16:16p12.2		 benign
NM_001376232.1(ZP2):c.747T>C (p.Pro249=) single nucleotide variant ZP2-related disorder [RCV003982206] Chr16:21204351 [GRCh38]
Chr16:21215672 [GRCh37]
Chr16:16p12.2		 benign
NM_001376232.1(ZP2):c.2000C>A (p.Ser667Tyr) single nucleotide variant not specified [RCV004487573] Chr16:21198790 [GRCh38]
Chr16:21210111 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.91G>A (p.Ala31Thr) single nucleotide variant not specified [RCV004487581] Chr16:21211367 [GRCh38]
Chr16:21222688 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001376232.1(ZP2):c.1895T>G (p.Val632Gly) single nucleotide variant not specified [RCV004603773] Chr16:21199602 [GRCh38]
Chr16:21210923 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001376232.1(ZP2):c.1364G>C (p.Arg455Thr) single nucleotide variant not specified [RCV004603776] Chr16:21201947 [GRCh38]
Chr16:21213268 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1070A>G (p.Glu357Gly) single nucleotide variant not specified [RCV004603774] Chr16:21203154 [GRCh38]
Chr16:21214475 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.548G>A (p.Gly183Glu) single nucleotide variant not specified [RCV004603777] Chr16:21205565 [GRCh38]
Chr16:21216886 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.1687G>A (p.Val563Met) single nucleotide variant not specified [RCV004606929] Chr16:21201376 [GRCh38]
Chr16:21212697 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.20G>A (p.Gly7Glu) single nucleotide variant not specified [RCV004603771] Chr16:21211528 [GRCh38]
Chr16:21222849 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.743C>T (p.Ser248Phe) single nucleotide variant not specified [RCV004603772] Chr16:21204355 [GRCh38]
Chr16:21215676 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001376232.1(ZP2):c.50A>G (p.Asn17Ser) single nucleotide variant not specified [RCV004603775] Chr16:21211498 [GRCh38]
Chr16:21222819 [GRCh37]
Chr16:16p12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1028
Count of miRNA genes:511
Interacting mature miRNAs:556
Transcripts:ENST00000219593, ENST00000572752, ENST00000573114, ENST00000574002, ENST00000574091, ENST00000576162
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407395827GWAS1044803_HMyoinositol measurement QTL GWAS1044803 (human)0.000008Myoinositol measurement162119868521198686Human

Markers in Region
G67892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371621,222,677 - 21,222,858UniSTSGRCh37
Build 361621,130,178 - 21,130,359RGDNCBI36
Celera1620,532,515 - 20,532,696RGD
Cytogenetic Map16p12UniSTS
HuRef1619,757,882 - 19,758,063UniSTS
RH71391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371621,208,849 - 21,209,122UniSTSGRCh37
Build 361621,116,350 - 21,116,623RGDNCBI36
Celera1620,518,695 - 20,518,968RGD
Cytogenetic Map16p12UniSTS
HuRef1619,744,057 - 19,744,330UniSTS
GeneMap99-GB4 RH Map16192.95UniSTS
NCBI RH Map16221.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
584 1028 1063 572 2726 870 1312 2 173 743 101 1333 2490 2228 26 1795 429 1148 1039 77

Sequence

Nucleotide Sequences
RefSeq Transcripts 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
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
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000572752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1621,205,566 - 21,211,559 (-)Ensembl
Ensembl Acc Id: ENST00000573114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1621,201,778 - 21,202,289 (-)Ensembl
Ensembl Acc Id: ENST00000574002   ⟹   ENSP00000460971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1621,197,452 - 21,214,510 (-)Ensembl
Ensembl Acc Id: ENST00000574091   ⟹   ENSP00000458991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1621,197,450 - 21,211,574 (-)Ensembl
Ensembl Acc Id: ENST00000576162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1621,203,791 - 21,211,574 (-)Ensembl
RefSeq Acc Id: NM_001376231   ⟹   NP_001363160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381621,197,450 - 21,211,574 (-)NCBI
T2T-CHM13v2.01621,128,399 - 21,142,514 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376232   ⟹   NP_001363161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381621,197,450 - 21,211,574 (-)NCBI
T2T-CHM13v2.01621,128,399 - 21,142,514 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376233   ⟹   NP_001363162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381621,197,450 - 21,211,574 (-)NCBI
T2T-CHM13v2.01621,128,399 - 21,142,514 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003460   ⟹   NP_003451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381621,197,452 - 21,214,510 (-)NCBI
GRCh371621,208,773 - 21,225,831 (-)NCBI
Build 361621,116,274 - 21,130,369 (-)NCBI Archive
HuRef1619,743,981 - 19,758,073 (-)ENTREZGENE
CHM1_11621,296,024 - 21,313,083 (-)NCBI
T2T-CHM13v2.01621,128,401 - 21,145,450 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164788
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381621,197,450 - 21,211,574 (-)NCBI
T2T-CHM13v2.01621,128,399 - 21,142,514 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003451   ⟸   NM_003460
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q4VAP0 (UniProtKB/Swiss-Prot),   Q4VAN9 (UniProtKB/Swiss-Prot),   B2R7J2 (UniProtKB/Swiss-Prot),   Q4VAP1 (UniProtKB/Swiss-Prot),   Q05996 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001363160   ⟸   NM_001376231
- Peptide Label: isoform 2 preproprotein
RefSeq Acc Id: NP_001363161   ⟸   NM_001376232
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q4VAP0 (UniProtKB/Swiss-Prot),   Q4VAN9 (UniProtKB/Swiss-Prot),   Q05996 (UniProtKB/Swiss-Prot),   B2R7J2 (UniProtKB/Swiss-Prot),   Q4VAP1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001363162   ⟸   NM_001376233
- Peptide Label: isoform 3 preproprotein
Ensembl Acc Id: ENSP00000460971   ⟸   ENST00000574002
Ensembl Acc Id: ENSP00000458991   ⟸   ENST00000574091
Protein Domains
ZP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q05996-F1-model_v2 AlphaFold Q05996 1-745 view protein structure

Promoters
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:
Human AssemblyChrPosition (strand)Source
GRCh381621,211,575 - 21,211,635EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13188 AgrOrtholog
COSMIC ZP2 COSMIC
Ensembl Genes ENSG00000103310 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000284588 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000574002 ENTREZGENE
  ENST00000574002.1 UniProtKB/Swiss-Prot
  ENST00000574091 ENTREZGENE
  ENST00000574091.6 UniProtKB/Swiss-Prot
  ENST00000638300.1 UniProtKB/Swiss-Prot
  ENST00000640487.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.4100 UniProtKB/Swiss-Prot
  Zona pellucida, ZP-N domain UniProtKB/Swiss-Prot
GTEx ENSG00000103310 GTEx
  ENSG00000284588 GTEx
HGNC ID HGNC:13188 ENTREZGENE
Human Proteome Map ZP2 Human Proteome Map
InterPro Zona_Pellucida_Domain_gp UniProtKB/Swiss-Prot
  ZP-C UniProtKB/Swiss-Prot
  ZP_chr UniProtKB/Swiss-Prot
  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
PANTHER ZONA PELLUCIDA SPERM-BINDING PROTEIN UniProtKB/Swiss-Prot
  ZONA PELLUCIDA SPERM-BINDING PROTEIN 2 UniProtKB/Swiss-Prot
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
UniProt B2R7J2 ENTREZGENE
  Q05996 ENTREZGENE
  Q4VAN9 ENTREZGENE
  Q4VAP0 ENTREZGENE
  Q4VAP1 ENTREZGENE
  ZP2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R7J2 UniProtKB/Swiss-Prot
  Q4VAN9 UniProtKB/Swiss-Prot
  Q4VAP0 UniProtKB/Swiss-Prot
  Q4VAP1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 ZP2  zona pellucida glycoprotein 2  ZP2  zona pellucida glycoprotein 2 (sperm receptor)  Symbol and/or name change 5135510 APPROVED