ADAM8 ADAM metallopeptidase domain 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAM8provided by HGNC
Official Full Name: ADAM metallopeptidase domain 8provided by HGNC
Primary source: HGNC:HGNC:215
See related: Ensembl:ENSG00000151651 MIM:602267; AllianceGenome:HGNC:215
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: MS2; CD156; CD156a
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 protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]
Expression: Biased expression in bone marrow (RPKM 22.3), spleen (RPKM 13.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (133262423..133276868, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (134218053..134232489, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (135075927..135090372, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of ADAM8 inhibits the proliferation, migration, invasion, and tumorigenesis of renal clear cell carcinoma cells to enhance the immunotherapy efficacy.
Title: Knockdown of ADAM8 inhibits the proliferation, migration, invasion, and tumorigenesis of renal clear cell carcinoma cells to enhance the immunotherapy efficacy.
ADAM8-Dependent Extracellular Signaling in the Tumor Microenvironment Involves Regulated Release of Lipocalin 2 and MMP-9.
Title: ADAM8-Dependent Extracellular Signaling in the Tumor Microenvironment Involves Regulated Release of Lipocalin 2 and MMP-9.
TrkB/C-induced HOXC6 activation enhances the ADAM8-mediated metastasis of chemoresistant colon cancer cells.
Title: TrkB/C-induced HOXC6 activation enhances the ADAM8-mediated metastasis of chemoresistant colon cancer cells.
Expression levels of the metalloproteinase ADAM8 critically regulate proliferation, migration and malignant signalling events in hepatoma cells.
Title: Expression levels of the metalloproteinase ADAM8 critically regulate proliferation, migration and malignant signalling events in hepatoma cells.
ADAM8 affects glioblastoma progression by regulating osteopontin-mediated angiogenesis.
Title: ADAM8 affects glioblastoma progression by regulating osteopontin-mediated angiogenesis.
A disintegrin and metalloproteinase 8 induced epithelial-mesenchymal transition to promote the invasion of colon cancer cells via TGF-beta/Smad2/3 signalling pathway.
Title: A disintegrin and metalloproteinase 8 induced epithelial-mesenchymal transition to promote the invasion of colon cancer cells via TGF-β/Smad2/3 signalling pathway.
ADAM8 promotes chondrosarcoma cell migration and invasion by activating the NF-kappaB/MMP-13 signaling axis.
Title: ADAM8 promotes chondrosarcoma cell migration and invasion by activating the NF-κB/MMP-13 signaling axis.
Study in human pancreatic cancer cells demonstrated that ADAM8 was a direct target of miR-328. Knockdown of miR-328 or ADAM8 led to significantly decreased cell growth and viability.
Title: Propofol inhibits pancreatic cancer proliferation and metastasis by up-regulating miR-328 and down-regulating ADAM8.
Blood ADAM 8 is a promising biomarker for early detection of gastric cancer.
Title: A Disintegrin and Metalloproteinase 8 as a Potential Blood Biomarker for Early Diagnosis of Gastric Cancer.
ADAMs binds to integrins to regulate cell adhesion and migration.
Title: A Disintegrin and Metalloproteinase Domain-8: A Novel Protective Proteinase in Chronic Obstructive Pulmonary Disease.

Submit: New GeneRIF Correction See all GeneRIFs (54)

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

RH80752 (e-PCR)
- UniSTS:83839

ADAM8_1412 (e-PCR)
- UniSTS:462013

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
enables cell adhesion molecule binding	IPI Inferred from Physical Interaction more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in extracellular matrix disassembly	TAS Traceable Author Statement more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in leukocyte migration involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in lymphocyte chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell differentiation in thymus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of acute inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cellular extravasation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of eosinophil migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fibronectin-dependent thymocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neutrophil extravasation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein processing	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of protein secretion	IC Inferred by Curator more info	PubMed
involved_in positive regulation of thymocyte apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of tumor necrosis factor (ligand) superfamily member 11 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of alpha9-beta1 integrin-ADAM8 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dense core granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in phagolysosome	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in podosome	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule	IDA Inferred from Direct Assay more info	PubMed
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: disintegrin and metalloproteinase domain-containing protein 8

Names: a disintegrin and metalloproteinase domain 8; cell surface antigen MS2; human leukocyte differentiation antigen

NP_001100.3

EC 3.4.24.-

NP_001157961.1

EC 3.4.24.-

NP_001157962.1

EC 3.4.24.-

XP_047280379.1

EC 3.4.24.-

XP_047280380.1

EC 3.4.24.-

XP_047280381.1

EC 3.4.24.-

XP_047280382.1

EC 3.4.24.-

XP_054220443.1

EC 3.4.24.-

XP_054220444.1

EC 3.4.24.-

XP_054220445.1

EC 3.4.24.-

XP_054220446.1

EC 3.4.24.-

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_001109.5 → NP_001100.3 disintegrin and metalloproteinase domain-containing protein 8 isoform 1 precursor

See identical proteins and their annotated locations for NP_001100.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK312834, AL592071, BQ007791, DA936506, DC408787

Consensus CDS

CCDS31319.2

UniProtKB/Swiss-Prot

B4DVM6, H0YL36, H0YLR0, H0YN39, P78325

UniProtKB/TrEMBL

Q14C66

Related

ENSP00000453302.1, ENST00000445355.8

Conserved Domains (5) summary

smart00050
Location:417 → 491

DISIN; Homologues of snake disintegrins

smart00608
Location:494 → 605

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:200 → 398

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. ...

pfam01421
Location:200 → 400

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:43 → 154

Pep_M12B_propep; Reprolysin family propeptide
NM_001164489.2 → NP_001157961.1 disintegrin and metalloproteinase domain-containing protein 8 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site, which causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AL592071, BC064500, BQ007791, DA936506, DC401057, DC408787

Consensus CDS

CCDS58103.1

UniProtKB/Swiss-Prot

P78325

Related

ENSP00000453855.1, ENST00000415217.7

Conserved Domains (5) summary

smart00050
Location:417 → 491

DISIN; Homologues of snake disintegrins

smart00608
Location:494 → 605

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:200 → 398

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. ...

pfam01421
Location:200 → 400

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:43 → 154

Pep_M12B_propep; Reprolysin family propeptide
NM_001164490.2 → NP_001157962.1 disintegrin and metalloproteinase domain-containing protein 8 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks three alternate exons and uses an alternate splice site in the coding region, which results in a frameshifted segment, compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter than isoform 1.

Source sequence(s)

AK301147, AL592071, BI908229, BQ007791, DA936506, DC408787

Consensus CDS

CCDS58102.1

UniProtKB/TrEMBL

Q14C66

Related

ENSP00000453043.1, ENST00000485491.6

Conserved Domains (4) summary

smart00050
Location:378 → 452

DISIN; Homologues of snake disintegrins

smart00608
Location:455 → 562

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:161 → 359

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. ...

pfam01421
Location:161 → 361

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

133262423..133276868 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424426.1 → XP_047280382.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X4
XM_047424425.1 → XP_047280381.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X3
XM_047424424.1 → XP_047280380.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X2
XM_047424423.1 → XP_047280379.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X1

RNA

XR_007061938.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

134218053..134232489 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364471.1 → XP_054220446.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X4
XM_054364470.1 → XP_054220445.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X3
XM_054364469.1 → XP_054220444.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X2
XM_054364468.1 → XP_054220443.1 disintegrin and metalloproteinase domain-containing protein 8 isoform X1