ZAN zonadhesin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZANprovided by HGNC
Official Full Name: zonadhesinprovided by HGNC
Primary source: HGNC:HGNC:12857
See related: Ensembl:ENSG00000146839 MIM:602372; AllianceGenome:HGNC:12857
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100733595..100797797)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101973655..102037894)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100331218..100395419)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Data identified three membrane-associated proteins, synaptosomal associated protein 25 (SNAP25), Thy-1 cell surface antigen and zonadhesin, interact with sex hormone binding globulin (SHBG)-ing proteins in the brain.
Title: Identification of sex hormone binding globulin-interacting proteins in the brain using phage display screening.
VWD2, membrane/A5 antigen mu receptor, and mucin-like domains in zonadhesin are rapidly evolving and, thus, may be involved in binding to the ZP in a species-specific manner
Title: Molecular population genetics of the gene encoding the human fertilization protein zonadhesin reveals rapid adaptive evolution.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in binding of sperm to zona pellucida	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: zonadhesin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029544.2 RefSeqGene

Range

4970..69172

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003386.3 → NP_003377.2 zonadhesin isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longer isoform (3).

Source sequence(s)

AC009488, AF332977, AK302596

Consensus CDS

CCDS47664.2

UniProtKB/Swiss-Prot

A0A087WU49, A0FKC8, D6W5W4, O00218, Q96L85, Q96L86, Q96L87, Q96L88, Q96L89, Q96L90, Q9BXN9, Q9BZ83, Q9BZ84, Q9BZ85, Q9BZ86, Q9BZ87, Q9BZ88, Q9Y493

Related

ENSP00000480750.1, ENST00000613979.5

Conserved Domains (9) summary

cd06263
Location:41 → 202

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

smart00832
Location:1737 → 1809

C8; This domain contains 8 conserved cysteine residues

pfam00008
Location:2712 → 2740

EGF; EGF-like domain

cd19941
Location:1426 → 1479

TIL; trypsin inhibitor-like cysteine rich domain

NF033839
Location:548 → 974

PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

pfam00094
Location:1156 → 1308

VWD; von Willebrand factor type D domain

pfam00629
Location:373 → 535

MAM; MAM domain, meprin/A5/mu

pfam08742
Location:2145 → 2207

C8; C8 domain

pfam12714
Location:2269 → 2320

TILa; TILa domain
NM_173059.3 → NP_775082.2 zonadhesin isoform 6 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice site and lacks two alternate exons, resulting in the loss of an in-frame segment in the 3' coding region, compared to variant 3. The encoded isoform (6) is 91 aa shorter than isoform 3.

Source sequence(s)

AC009488, AF332980, AK302596

Consensus CDS

CCDS47663.2

UniProtKB/Swiss-Prot

Q9Y493

UniProtKB/TrEMBL

B4DYT6, F5H0T8

Related

ENSP00000481742.1, ENST00000620596.4

Conserved Domains (9) summary

cd06263
Location:41 → 202

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

smart00832
Location:2543 → 2617

C8; This domain contains 8 conserved cysteine residues

pfam00008
Location:2621 → 2649

EGF; EGF-like domain

cd19941
Location:1426 → 1479

TIL; trypsin inhibitor-like cysteine rich domain

NF033839
Location:548 → 974

PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

pfam00094
Location:1156 → 1308

VWD; von Willebrand factor type D domain

pfam00629
Location:373 → 535

MAM; MAM domain, meprin/A5/mu

pfam08742
Location:2145 → 2207

C8; C8 domain

pfam12714
Location:2269 → 2320

TILa; TILa domain

RNA

NR_111917.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009488, AF332976, AK302596

Related

ENST00000542585.5
NR_111918.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon in the 3' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009488, AF332978, AK302596

Related

ENST00000538115.5
NR_111919.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate exon in the 3' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009488, AF332979, AK302596

Related

ENST00000546213.5
NR_178062.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3, non-coding) represents the alternate non-coding allele of variant 3 in T2T-CHM13v2.0 genome assembly. It is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD)

Source sequence(s)

CP068271
NR_178063.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6, non-coding) represents the alternate non-coding allele of variant 6 in T2T-CHM13v2.0 genome assembly. It is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

CP068271

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

100733595..100797797

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

101973655..102037894

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173055.1: Suppressed sequence

Description

NM_173055.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_173056.1: Suppressed sequence

Description

NM_173056.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_173057.1: Suppressed sequence

Description

NM_173057.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_173058.1: Suppressed sequence

Description

NM_173058.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.