UNC13D
Summary: This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Nameunc-13 homolog D OMIM IDMIM:608897 Ensembl IDEnsembl:ENSG00000092929 HGNC IDHGNC:HGNC:23147 PHARMGKB IDPA134919958 Map Location17q25.1 | |||||
GO terms in UNC13D
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0017137 | Rab GTPase binding |
| MF | IPI | GO:0017137 | Rab GTPase binding |
| BP | IEA | GO:0002432 | granuloma formation |
| BP | IEA | GO:0002467 | germinal center formation |
| BP | IEA | GO:0006909 | phagocytosis |
Gene expression in normal tissue: UNC13D
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in UNC13D
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2291 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD409 | Saracatinib | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in UNC13D
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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