Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8754
Gene name Gene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase domain 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAM9
Synonyms (NCBI Gene) Gene synonyms aliases
CORD9, MCMP, MDC9, Mltng
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CORD9
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000186 Process Activation of MAPKK activity IDA 17704059
GO:0004222 Function Metalloendopeptidase activity IBA 21873635
GO:0004222 Function Metalloendopeptidase activity IDA 9920899
GO:0004222 Function Metalloendopeptidase activity IMP 22480688
GO:0005080 Function Protein kinase C binding ISS 8647900
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602713 216 ENSG00000168615
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cone-rod dystrophy CONE-ROD DYSTROPHY 9, Cone-Rod Dystrophy 2, Cone rod dystrophy, Cone-Rod Dystrophies rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209
View all (207 more)
25091951, 19409519
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17018608
Unknown
Disease term Disease name Evidence References Source
Cone Dystrophy cone-rod dystrophy GenCC
Associations from Text Mining
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