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    ZAN zonadhesin [ Homo sapiens (human) ]

    Gene ID: 7455, updated on 2-Nov-2024

    Summary

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    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

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    See ZAN in Genome Data Viewer
    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_000007.14Genomic Context describing neighboring genes Neighboring gene POP7 homolog, ribonuclease P/MRP subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100322454-100322688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26383 Neighboring gene erythropoietin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100382347-100382846 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:100391649-100392196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26385 Neighboring gene Sharpr-MPRA regulatory region 9506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100399088-100399791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100399792-100400494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100402349-100403064 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100412721-100413220 Neighboring gene EPH receptor B4 Neighboring gene RNA, 7SL, cytoplasmic 750, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100425149-100425944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100426741-100427536 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100432899-100433818 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100433819-100434738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100434739-100435658 Neighboring gene solute carrier family 12 member 9 Neighboring gene SLC12A9 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26389

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Rapid divergence of a gamete recognition gene promoted macroevolution of Eutheria. Roberts EK, et al. Genome Biol, 2022 Jul 11. PMID 35821049, Free PMC Article
    2. Role of zonadhesin during sperm-egg interaction: a species-specific acrosomal molecule with multiple functions. Tardif S, et al. Mol Hum Reprod, 2011 Nov. PMID 21602212
    3. Tandem repetitive D domains of the sperm ligand zonadhesin evolve faster in the paralogue than in the orthologue comparison. Herlyn H, et al. J Mol Evol, 2006 Nov. PMID 17031461
    4. Sequence evolution of the sperm ligand zonadhesin correlates negatively with body weight dimorphism in primates. Herlyn H, et al. Evolution, 2007 Feb. PMID 17348940
    5. The molecular evolution of sperm zonadhesin. Herlyn H, et al. Int J Dev Biol, 2008. PMID 18649290

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. 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.
    4. 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.
    Submit: New GeneRIF Correction

    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

    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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    Markers

    Homology

    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

    1. NG_029544.2 RefSeqGene

      Range
      4970..69172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100733595..100797797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101973655..102037894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173055.1: Suppressed sequence

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

    2. NM_173056.1: Suppressed sequence

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

    3. NM_173057.1: Suppressed sequence

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

    4. NM_173058.1: Suppressed sequence

      Description
      NM_173058.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y493.5 GenPept UniProtKB/Swiss-Prot:Q9Y493

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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