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

Gene ID: 255926, updated on 10-Oct-2023

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
Summary
Predicted to be involved in binding activity of sperm to zona pellucida and cell adhesion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 9.6) See more
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Genomic context

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Location:
8p11.22
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (39314632..39417378)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39591725..39694643)
105.20220307 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
  • 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_2023_10

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
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Research Materials
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