Gene Gene information from NCBI Gene database.
Entrez ID 8754
Gene name ADAM metallopeptidase domain 9
Gene symbol ADAM9
Synonyms (NCBI Gene)
CORD9MCMPMDC9Mltng
Chromosome 8
Chromosome location 8p11.22
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
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs137853040 C>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs137853041 C>G,T Pathogenic Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs146980702 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, missense variant
rs786205085 G>A Pathogenic Splice donor variant
rs786205086 A>G Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
589
miRTarBase ID miRNA Experiments Reference
MIRT002555 hsa-miR-373-3p Microarray 15685193
MIRT007266 hsa-miR-126-3p Luciferase reporter assay 23437250
MIRT007266 hsa-miR-126-3p Luciferase reporter assay 23437250
MIRT007267 hsa-miR-126-5p Luciferase reporter assay 23437250
MIRT007267 hsa-miR-126-5p Luciferase reporter assay 23437250
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
65
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IDA 9920899, 12054541
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity IMP 22480688
GO:0005080 Function Protein kinase C binding ISS 8647900
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602713 216 ENSG00000168615
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13443
Protein name Disintegrin and metalloproteinase domain-containing protein 9 (ADAM 9) (EC 3.4.24.-) (Cellular disintegrin-related protein) (Meltrin-gamma) (Metalloprotease/disintegrin/cysteine-rich protein 9) (Myeloma cell metalloproteinase)
Protein function Metalloprotease that cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 35 163 Reprolysin family propeptide Family
PF01421 Reprolysin 212 406 Reprolysin (M12B) family zinc metalloprotease Domain
PF00200 Disintegrin 423 496 Disintegrin Domain
PF08516 ADAM_CR 501 615 ADAM cysteine-rich Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in chondrocytes. Isoform 2 is highly expressed in liver and heart. {ECO:0000269|PubMed:12054541, ECO:0000269|PubMed:7584026, ECO:0000269|PubMed:8647900, ECO:0000269|PubMed:9016778}.
Sequence
MGSGARFPSGTLRVRWLLLLGLVGPVLGAARPGFQQTSHLSSYEIITPWRLTRERREAPR
PYSKQVSYVIQAEGKEHIIHLERNKDLLPEDFVVYTYNKEGTLITDHPNIQNHCHYRGYV
EGVHNSSIALSDCFGLRGLLHLENASYGIEPLQNSSHFEHIIY
RMDDVYKEPLKCGVSNK
DIEKETAKDEEEEPPSMTQLLRRRRAVLPQTRYVELFIVVDKERYDMMGRNQTAVREEMI
LLANYLDSMYIMLNIRIVLVGLEIWTNGNLINIVGGAGDVLGNFVQWREKFLITRRRHDS
AQLVLKKGFGGTAGMAFVGTVCSRSHAGGINVFGQITVETFASIVAHELGHNLGMNHDDG
RDCSCGAKSCIMNSGASGSRNFSSCSAEDFEKLTLNKGGNCLLNIP
KPDEAYSAPSCGNK
LVDAGEECDCGTPKECELDPCCEGSTCKLKSFAECAYGDCCKDCRFLPGGTLCRGKTSEC
DVPEYCNGSSQFCQPD
VFIQNGYPCQNNKAYCYNGMCQYYDAQCQVIFGSKAKAAPKDCF
IEVNSKGDRFGNCGFSGNEYKKCATGNALCGKLQCENVQEIPVFGIVPAIIQTPSRGTKC
WGVDFQLGSDVPDPG
MVNEGTKCGAGKICRNFQCVDASVLNYDCDVQKKCHGHGVCNSNK
NCHCENGWAPPNCETKGYGGSVDSGPTYNEMNTALRDGLLVFFFLIVPLIVCAIFIFIKR
DQLWRSYFRKKRSQTYESDGKNQANPSRQPGSVPRHVSPVTPPREVPIYANRFAVPTYAA
KQPQQFPSRPPPPQPKVSSQGNLIPARPAPAPPLYSSLT
Sequence length 819
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Efferocytosis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
111
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cone-rod dystrophy Likely pathogenic; Pathogenic rs1838681432, rs2491909343, rs137853041, rs786205086, rs1588391640 RCV005419432
RCV002469935
RCV002267719
RCV002267720
RCV002267746
Cone-rod dystrophy 9 Likely pathogenic; Pathogenic rs2129433190, rs2129438824, rs1838681432, rs786205151, rs786205085, rs137853040, rs137853041, rs786205086, rs2492066969, rs1836637522 RCV001376292
RCV001542474
RCV002287550
RCV000170309
RCV000007279
RCV000007280
RCV000007281
RCV000007282
RCV004006259
RCV001169962
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs73604730 RCV005909490
ADAM9-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs768293074, rs376796967, rs540503329, rs144750648, rs777947104, rs566385221, rs146980702, rs140082569, rs138938731, rs78001852 RCV003908607
RCV003928871
RCV003973295
RCV004757448
RCV003978823
RCV003971169
RCV003922813
RCV003903277
RCV003923036
RCV003923192
Cone-Rod Dystrophy, Recessive Benign; Uncertain significance rs10651669, rs201439643, rs886062927, rs1448479332 RCV000407578
RCV000387168
RCV000296709
RCV000331841
Gastric cancer Conflicting classifications of pathogenicity rs766583766 RCV005912454
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24705471, 40429751
Alzheimer Disease Associate 22508715
Asthma Stimulate 17088949
Astrocytoma Stimulate 27571068
Breast Neoplasms Stimulate 15565459
Breast Neoplasms Associate 17157792, 20473280, 20736367, 23499592, 26261534
Breast Neoplasms Male Associate 22527098
Carcinoma Hepatocellular Associate 21530512, 22302133, 32683508, 36660950, 37081465
Carcinoma Hepatocellular Stimulate 39346916
Carcinoma Non Small Cell Lung Associate 32964979, 34055989