ADAM8 ADAM metallopeptidase domain 8 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: ADAM8provided by HGNC
Official Full Name: ADAM metallopeptidase domain 8provided by HGNC
Primary source: HGNC:215
See related: Ensembl:ENSG00000151651; HPRD:03777; MIM:602267; Vega:OTTHUMG00000019309
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; MGC134985
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]

Help top of page

Genomic context

Location :: 10q26.3

Sequence :: Chromosome: 10; NC_000010.10 (135075920..135090407, complement)

See ADAM8 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

variation in the ADAM8 gene may affect serum sADAM8 concentrations and the risk of myocardial infarction
Title: Common variation in the ADAM8 gene affects serum sADAM8 concentrations and the risk of myocardial infarction in two independent cohorts.
ADAM8 is both associated with PSGL-1 through the ezrin-radixin-moesin actin-binding proteins and able to cause the proteolytic cleavage of this adhesion receptor.
Title: The metalloprotease ADAM8 is associated with and regulates the function of the adhesion receptor PSGL-1 through ERM proteins.
gene expressions for ADAM8 and ADAM15 were notably lower in ascending aorta as compared with aortic dissection
Title: A disintegrin and metalloprotease -8 and -15 and susceptibility for ascending aortic dissection.
increased expression in allergic rhinitis
Title: Increased expression of a disintegrin and metalloprotease 8 in allergic rhinitis.
It regulates onset of blood circulation. (review)
Title: [ADAM8-dependent onset of blood circulation in zebrafish].
ADAM8 is a promising candidate to be involved in atherosclerosis, and its 2662 T/G allelic variant significantly associates with advanced atherosclerotic lesion areas and myocardial infarction.
Title: ADAM8 and its single nucleotide polymorphism 2662 T/G are associated with advanced atherosclerosis and fatal myocardial infarction: Tampere vascular study.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
ADAM8 and EGFR are overexpressed in non-small cell lung cancer.
Title: [Expression and clinical significance of a disintegrin and metalloprotease 8 (ADAM8) and epidermal growth factor receptor (EGFR) in non-small cell lung cancer].
expression of truncated forms of ADAM8 by the lung cancer cells may result in the specific upregulation of their invasive and osteoclastogenic activities in the bone microenvironment
Title: Novel alternatively spliced ADAM8 isoforms contribute to the aggressive bone metastatic phenotype of lung cancer.
the effects of pH on substrate cleavage by ADAM8 beyond autocatalysis
Title: ADAM8 substrate specificity: influence of pH on pre-processing and proteoglycan degradation.

Submit: New GeneRIF Correction See all (22)

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Function	Evidence Code	Pubs
calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
cell adhesion molecule binding	IPI Inferred from Physical Interaction more info	PubMed
metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
peptidase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein self-association	TAS Traceable Author Statement more info	PubMed
zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
activation of MAPK activity involved in innate immune response	ISS Inferred from Sequence or Structural Similarity more info
angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
inflammatory response	IDA Inferred from Direct Assay more info	PubMed
leukocyte migration involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
lymphocyte chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of neuron apoptosis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of T cell differentiation in thymus	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of acute inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of bone resorption	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cellular extravasation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of leukocyte migration	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein kinase B signaling cascade	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of protein processing	NAS Non-traceable Author Statement more info	PubMed
positive regulation of protein secretion	IC Inferred by Curator more info	PubMed
positive regulation of thymocyte apoptosis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of tumor necrosis factor (ligand) superfamily member 11 production	ISS Inferred from Sequence or Structural Similarity more info
proteolysis	IEA Inferred from Electronic Annotation more info
regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
alpha9-beta1 integrin-ADAM8 complex	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex	IDA Inferred from Direct Assay more info	PubMed
cell surface	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
dense core granule membrane	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
phagolysosome	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
podosome	IDA Inferred from Direct Assay more info	PubMed
specific granule	IDA Inferred from Direct Assay more info	PubMed
tertiary granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: disintegrin and metalloproteinase domain-containing protein 8

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

NP_001100.3

EC 3.4.24.-

NP_001157961.1

EC 3.4.24.-

NP_001157962.1

EC 3.4.24.-

Help top of page

NCBI Reference Sequences (RefSeq)

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_001109.4 → NP_001100.3 disintegrin and metalloproteinase domain-containing protein 8 isoform 1 precursor

Status: REVIEWED

Description

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

Source sequence(s)

AK312834, AL592071, BM144968, BQ007791, CR997306, DA936506, DC401057, DC408787

UniProtKB/TrEMBL

H0YLR0

UniProtKB/TrEMBL

Q14C66

Related

ENSP00000453302, OTTHUMP00000248444, ENST00000445355, OTTHUMT00000051118

Conserved Domains (4) summary

cd04269
Location:200 – 398
Blast Score: 558

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. ...

pfam01562
Location:29 – 155
Blast Score: 396

Pep_M12B_propep; Reprolysin family propeptide

cl10507
Location:417 – 492
Blast Score: 319

Disintegrin; Disintegrin

cl15456
Location:494 – 605
Blast Score: 273

ADAM_CR; ADAM cysteine-rich
NM_001164489.1 → 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, BM144968, BQ007791, DA936506, DC401057, DC408787

UniProtKB/TrEMBL

H0YN39

Related

ENSP00000453855, OTTHUMP00000248447, ENST00000415217, OTTHUMT00000418566

Conserved Domains (4) summary

cd04269
Location:200 – 398
Blast Score: 550

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. ...

pfam01562
Location:29 – 155
Blast Score: 394

Pep_M12B_propep; Reprolysin family propeptide

cl10507
Location:417 – 492
Blast Score: 307

Disintegrin; Disintegrin

cl15456
Location:494 – 605
Blast Score: 262

ADAM_CR; ADAM cysteine-rich
NM_001164490.1 → NP_001157962.1 disintegrin and metalloproteinase domain-containing protein 8 isoform 3 precursor

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, BM144968, BQ007791, DA936506, DC401057, DC408787

UniProtKB/TrEMBL

B4DVM6

UniProtKB/TrEMBL

H0YL36

Related

ENSP00000453043, OTTHUMP00000248445, ENST00000485491, OTTHUMT00000418565

Conserved Domains (3) summary

cd04269
Location:161 – 359
Blast Score: 566

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. ...

cl10507
Location:378 – 453
Blast Score: 315

Disintegrin; Disintegrin

cl15456
Location:455 – 562
Blast Score: 253

ADAM_CR; ADAM cysteine-rich

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

135075920..135090407, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

128622621..128637236, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL592071.13 (21299..35751)	None
genomic	CH471211.2	EAW61325.1
		EAW61326.1
genomic	CS174020.1	CAJ34536.1
mRNA	AK301147.1	BAG62738.1
mRNA	AK304324.1	BAH14159.1
mRNA	AK310662.1	None
mRNA	AK312834.1	BAG35688.1
mRNA	BC064500.1	None
mRNA	BC115404.1	AAI15405.1
mRNA	BI908229.1	None
mRNA	BM144968.1	None
mRNA	BM146234.1	None
mRNA	BQ007791.1	None
mRNA	CR997306.1	None
mRNA	D26579.1	BAA05626.1
mRNA	DA936506.1	None
mRNA	DB142906.1	None
mRNA	DC401057.1	None
mRNA	DC408787.1	None