ADAM9 ADAM metallopeptidase domain 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAM9provided by HGNC
Official Full Name: ADAM metallopeptidase domain 9provided by HGNC
Primary source: HGNC:HGNC:216
See related: Ensembl:ENSG00000168615 MIM:602713; AllianceGenome:HGNC:216
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: MCMP; MDC9; CORD9; Mltng
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 interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
Expression: Ubiquitous expression in gall bladder (RPKM 19.8), urinary bladder (RPKM 16.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.22

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38996973..39105261)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (39274115..39382400)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (38854492..38962780)

Chromosome 8 - NC_000008.11 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?

ADAM9 deubiquitination induced by USP22 suppresses proliferation, migration, invasion, and epithelial-mesenchymal transition of trophoblast cells in preeclampsia.
Title: ADAM9 deubiquitination induced by USP22 suppresses proliferation, migration, invasion, and epithelial-mesenchymal transition of trophoblast cells in preeclampsia.
The ADAM9/WISP-1 axis cooperates with osteoblasts to stimulate primary prostate tumor growth and metastasis.
Title: The ADAM9/WISP-1 axis cooperates with osteoblasts to stimulate primary prostate tumor growth and metastasis.
Knockdown of circ-ADAM9 inhibits malignant phenotype and enhances radiosensitivity in breast cancer cells via acting as a sponge for miR-383-5p.
Title: Knockdown of circ-ADAM9 inhibits malignant phenotype and enhances radiosensitivity in breast cancer cells via acting as a sponge for miR-383-5p.
ADAM9: A regulator between HCMV infection and function of smooth muscle cells.
Title: ADAM9: A regulator between HCMV infection and function of smooth muscle cells.
IL-17A Promotes Epithelial ADAM9 Expression in Cigarette Smoke-Related COPD.
Title: IL-17A Promotes Epithelial ADAM9 Expression in Cigarette Smoke-Related COPD.
Circ_0005714/miR-223-3p/ADAM9 regulatory axis affects proliferation, migration, invasion, and angiopoiesis in trophoblast cells.
Title: Circ_0005714/miR-223-3p/ADAM9 regulatory axis affects proliferation, migration, invasion, and angiopoiesis in trophoblast cells.
Metalloprotease ADAM9 cleaves ephrin-B ligands and differentially regulates Wnt and mTOR signaling downstream of Akt kinase in colorectal cancer cells.
Title: Metalloprotease ADAM9 cleaves ephrin-B ligands and differentially regulates Wnt and mTOR signaling downstream of Akt kinase in colorectal cancer cells.
Relevance of A Disintegrin and Metalloproteinase Domain-Containing (ADAM)9 Protein Expression to Bladder Cancer Malignancy.
Title: Relevance of A Disintegrin and Metalloproteinase Domain-Containing (ADAM)9 Protein Expression to Bladder Cancer Malignancy.
Cancer-associated fibroblasts at the unfavorable desmoplastic stroma promote colorectal cancer aggressiveness: Potential role of ADAM9.
Title: Cancer-associated fibroblasts at the unfavorable desmoplastic stroma promote colorectal cancer aggressiveness: Potential role of ADAM9.
Ubiquitin-specific peptidase 39 promotes human glioma cells migration and invasion by facilitating ADAM9 mRNA maturation.
Title: Ubiquitin-specific peptidase 39 promotes human glioma cells migration and invasion by facilitating ADAM9 mRNA maturation.

Submit: New GeneRIF Correction See all GeneRIFs (112)

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

Associated conditions

Description	Tests
Cone-rod dystrophy 9 MedGen: C1423873 OMIM: 612775 GeneReviews: Not available	Compare labs

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

RH25259 (e-PCR)
- UniSTS:85328

RH17377 (e-PCR)
- UniSTS:46288

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables SH3 domain binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables collagen binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables integrin binding	IC Inferred by Curator more info	PubMed
enables integrin binding	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables laminin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metallopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion mediated by integrin	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell adhesion mediated by integrin	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion mediated by integrin	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in integrin-mediated signaling pathway	IC Inferred by Curator more info	PubMed
involved_in keratinocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within membrane protein ectodomain proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane protein ectodomain proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane protein intracellular domain proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monocyte activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of keratinocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of membrane protein ectodomain proteolysis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to antineoplastic agent	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to glucocorticoid	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to laminar fluid shear stress	IEA Inferred from Electronic Annotation more info
involved_in response to manganese ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in 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 9

Names: ADAM metallopeptidase domain 9 (meltrin gamma); cellular disintegrin-related protein; cone rod dystrophy 9; metalloprotease/disintegrin/cysteine-rich protein 9; myeloma cell metalloproteinase

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.

Genomic

NG_016335.2 RefSeqGene

Range

5002..113290

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003816.3 → NP_003807.1 disintegrin and metalloproteinase domain-containing protein 9 precursor

See identical proteins and their annotated locations for NP_003807.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein coding transcript.

Source sequence(s)

AC105091, AC108863

Consensus CDS

CCDS6112.1

UniProtKB/Swiss-Prot

B7ZLN7, Q10718, Q13443, Q8NFM6

UniProtKB/TrEMBL

A0A7I2V4B3

Related

ENSP00000419446.2, ENST00000487273.7

Conserved Domains (5) summary

smart00608
Location:500 → 636

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:212 → 404

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:423 → 497

Disintegrin; Disintegrin

pfam01421
Location:212 → 406

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:55 → 162

Pep_M12B_propep; Reprolysin family propeptide

RNA

NR_027638.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) omits a coding exon resulting in a frameshift and premature stop codon compared to variant 1. This suggests that the transcript is subject to nonsense-mediated decay (NMD) and therefore a predicted protein is not annotated.

Source sequence(s)

AC105091, AC108863, AV708278, BC027996, BC126406, BC143923

Related

ENST00000481873.7
NR_027639.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) omits a coding exon resulting in a frameshift and premature stop codon compared to variant 1. This suggests that the transcript is subject to nonsense-mediated decay (NMD) and therefore a predicted protein is not annotated.

Source sequence(s)

AC105091, AC108863, AV708278, BC027996, BC143924

Related

ENST00000468065.5
NR_027878.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC105091, AC108863

Related

ENST00000379917.7

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_000008.11 Reference GRCh38.p14 Primary Assembly

Range

38996973..39105261

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047422390.1 → XP_047278346.1 disintegrin and metalloproteinase domain-containing protein 9 isoform X2

Related

ENSP00000503418.1, ENST00000678474.1
XM_011544682.3 → XP_011542984.1 disintegrin and metalloproteinase domain-containing protein 9 isoform X1

UniProtKB/TrEMBL

A0A7I2V4B3

Conserved Domains (5) summary

smart00608
Location:482 → 618

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:194 → 386

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:405 → 479

Disintegrin; Disintegrin

pfam01421
Location:194 → 388

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:37 → 144

Pep_M12B_propep; Reprolysin family propeptide

RNA

XR_007060759.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187577.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

7546..10944

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

39274115..39382400

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361438.1 → XP_054217413.1 disintegrin and metalloproteinase domain-containing protein 9 isoform X2
XM_054361437.1 → XP_054217412.1 disintegrin and metalloproteinase domain-containing protein 9 isoform X1

RNA

XR_008487888.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001005845.1: Suppressed sequence

Description

NM_001005845.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.