ADAM21 ADAM metallopeptidase domain 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAM21provided by HGNC
Official Full Name: ADAM metallopeptidase domain 21provided by HGNC
Primary source: HGNC:HGNC:200
See related: Ensembl:ENSG00000139985 MIM:603713; AllianceGenome:HGNC:200
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
Also known as: ADAM31; ADAM 21
Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011]
Expression: Biased expression in testis (RPKM 6.0) and brain (RPKM 0.2) See more
Orthologs: all
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Genomic context

Location:: 14q24.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (70452174..70459905)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (64658196..64665929)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (70918891..70926622)

Chromosome 14 - NC_000014.9 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?

ADAM21 was overexpressed in KYN-2 hepatocellular carcinoma (HCC) cell line, and its knockdown reduced invasion, migration, proliferation, and metastasis relative to controls. In HCC clinical specimens, ADAM21 positivity was associated with vascular invasion, large tumor size, high histological grade, and lower overall and recurrence-free survival as compared to cases that were negative for ADAM21 expression.
Title: Overexpression of a disintegrin and metalloproteinase 21 is associated with motility, metastasis, and poor prognosis in hepatocellular carcinoma.

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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

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

G32933 (e-PCR)
- UniSTS:117511

RH78730 (e-PCR)
- UniSTS:27680

A009X03 (e-PCR)
- UniSTS:22107

RH103433 (e-PCR)
- UniSTS:97758

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in male gonad development	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in single fertilization	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in sperm head plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: disintegrin and metalloproteinase domain-containing protein 21

Names: ADAM metallopeptidase domain 21, preproprotein; a disintegrin and metalloproteinase domain 21

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.

mRNA and Protein(s)

NM_003813.4 → NP_003804.2 disintegrin and metalloproteinase domain-containing protein 21 preproprotein

See identical proteins and their annotated locations for NP_003804.2

Status: REVIEWED

Source sequence(s)

AA758110, AL357153, AL391223, DB035527

Consensus CDS

CCDS9804.1

UniProtKB/Swiss-Prot

O43507, Q2VPC6, Q32MR0, Q9UKJ8

Related

ENSP00000474385.1, ENST00000603540.2

Conserved Domains (5) summary

smart00608
Location:491 → 627

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:208 → 396

ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...

pfam00200
Location:415 → 487

Disintegrin; Disintegrin

pfam01421
Location:209 → 398

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:50 → 158

Pep_M12B_propep; Reprolysin family propeptide