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    ADAM5 ADAM metallopeptidase domain 5 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 255926, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ADAM5provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 5 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:212
    See related
    Ensembl:ENSG00000196115 AllianceGenome:HGNC:212
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADAM5P; TMDCII
    Expression
    Restricted expression toward testis (RPKM 9.6) See more
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    Genomic context

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    See ADAM5 in Genome Data Viewer
    Location:
    8p11.22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (39314632..39417378)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39591725..39694643)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (39172151..39274897)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 32 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:39038237-39039436 Neighboring gene ribosomal protein L3 pseudogene 10 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:39084432-39085631 Neighboring gene lysine acetyltransferase 2B pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19141 Neighboring gene ADAM metallopeptidase domain 3A (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39379875-39380401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39380402-39380927 Neighboring gene ADAM metallopeptidase domain 3A-like

    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. Transcripts encoding the sperm surface protein tMDC II are non-functional in the human. Frayne J, et al. Biochem J, 1999 Aug 1. PMID 10417343, Free PMC Article
    2. Association of Inherited Copy Number Variation in ADAM3A and ADAM5 Pseudogenes with Oropharynx Cancer Risk and Outcome. Carron J, et al. Genes (Basel), 2022 Dec 19. PMID 36553675, Free PMC Article
    3. A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts. Younkin SG, et al. Birth Defects Res A Clin Mol Teratol, 2015 Apr. PMID 25776870, Free PMC Article
    4. Chromosomal assignment of four testis-expressed mouse genes from a new family of transmembrane proteins (ADAMs) involved in cell-cell adhesion and fusion. Cho C, et al. Genomics, 1996 Jun 15. PMID 8786143
    5. Mig-6 controls EGFR trafficking and suppresses gliomagenesis. Ying H, et al. Proc Natl Acad Sci U S A, 2010 Apr 13. PMID 20351267, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of Inherited Copy Number Variation in ADAM3A and ADAM5 Pseudogenes with Oropharynx Cancer Risk and Outcome.
      Title: Association of Inherited Copy Number Variation in ADAM3A and ADAM5 Pseudogenes with Oropharynx Cancer Risk and Outcome.
    2. ADAM5, or nearby regulatory elements, may be involved in the etiology of oral clefts.
      Title: A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • a disintegrin and metalloproteinase domain 5
    • tMDC II

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    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.

    RNA

    1. NR_001448.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC105185, AC106011
      Related
      ENST00000399789.6

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      39314632..39417378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187577.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      220343..267549
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      39591725..39694643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040073.1: Suppressed sequence

      Description
      NM_001040073.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate and we now believe that it represents a pseudogene rather than a protein-coding gene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NVV9.2 GenPept UniProtKB/Swiss-Prot:Q6NVV9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials