AHNAK
Summary: The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:103390 Ensembl IDEnsembl:ENSG00000124942 HGNC IDHGNC:HGNC:347 PHARMGKB IDPA24640 Map Location11q12.3 | |||||
GO terms in AHNAK
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0044548 | S100 protein binding |
| MF | HDA | GO:0045296 | cadherin binding |
| MF | ISS | GO:0097493 | structural molecule activity conferring elasticity |
| CC | ISS | GO:0005634 | nucleus |
Gene expression in normal tissue: AHNAK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AHNAK
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| netpath | Pathway_EGFR1 | EGFR1 |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AHNAK
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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