ADAM9 Chromosome 8
ADAM metallopeptidase domain 9
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What This Gene Does
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]
Gene Info
Gene Group
ADAM metallopeptidase domain containing
Locus Type
gene with protein product
Location
8p11.22
Ensembl
ENSG00000168615
Associated Conditions (5)
Cone-rod dystrophy 9
Inborn genetic diseases
ADAM9-related disorder
Gastric cancer
Cone-rod dystrophy
Key Variants
RS1001016233
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Inborn genetic diseases, Cone-rod dystrophy 9
Health Risk
RS1019687054
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
RS1056021266
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
RS138938731
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, ADAM9-related disorder, Cone-rod dystrophy 9
Health Risk
RS143095614
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
RS1440139690
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
RS146980702
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, ADAM9-related disorder, Cone-rod dystrophy 9
Health Risk
RS149572348
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
RS150861658
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
RS185475790
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
RS186443262
Conflicting classifications of pathogenicity
Health Risk
RS190620963
Conflicting classifications of pathogenicity
Cone-rod dystrophy 9, Cone-rod dystrophy 9
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1001016233 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Inborn genetic diseases, Cone-rod dystrophy 9 |
| RS1019687054 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS1056021266 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS138938731 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, ADAM9-related disorder, Cone-rod dystrophy 9 |
| RS143095614 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS1440139690 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS146980702 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, ADAM9-related disorder, Cone-rod dystrophy 9 |
| RS149572348 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS150861658 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS185475790 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS186443262 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190620963 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS199880101 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS200233670 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS202060547 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368693989 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS536279890 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766583766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Gastric cancer, Inborn genetic diseases |
| RS771587211 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS773746485 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS886062922 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS1838882266 | Health Risk | Likely pathogenic | — |
| RS2129433190 | Health Risk | Likely pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS2491964775 | Health Risk | Likely pathogenic | — |
| RS2491995210 | Health Risk | Likely pathogenic | — |
| RS1057518208 | Health Risk | Pathogenic | — |
| RS1188975716 | Health Risk | Pathogenic | — |
| RS137853040 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS137853041 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy, Cone-rod dystrophy 9 |
| RS1422732315 | Health Risk | Pathogenic | — |
| RS1588391640 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS1836637522 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS2129433185 | Health Risk | Pathogenic | — |
| RS2129438784 | Health Risk | Pathogenic | — |
| RS2129438824 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS2491909343 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2491985371 | Health Risk | Pathogenic | — |
| RS2492066969 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS2492068574 | Health Risk | Pathogenic | — |
| RS2536369452 | Health Risk | Pathogenic | — |
| RS786205085 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS786205086 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy, Cone-rod dystrophy 9 |
| RS786205151 | Health Risk | Pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy 9 |
| RS1838681432 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 9, Cone-rod dystrophy, Cone-rod dystrophy 9 |