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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
AHNAK nucleoproteinMIM:103390Ensembl:ENSG00000124942HGNC:HGNC:347PA2464011q12.3

Gene Categories:

TRANSPORTERION CHANNEL

GO terms in AHNAK


Term TypeEvidence TypeGO Term IDGO Des.
MFHDAGO:0003723RNA binding
MFIPIGO:0005515protein binding
MFIPIGO:0044548S100 protein binding
MFHDAGO:0045296cadherin binding
MFISSGO:0097493structural molecule activity conferring elasticity
CCISSGO:0005634nucleus
CCNASGO:0005634nucleus
CCIBAGO:0005737cytoplasm
CCIDAGO:0005737cytoplasm
CCHDAGO:0005765lysosomal membrane
CCIDAGO:0005829cytosol
CCISSGO:0005829cytosol
CCIBAGO:0005886plasma membrane
CCIDAGO:0005886plasma membrane
CCHDAGO:0005925focal adhesion
CCIDAGO:0015629actin cytoskeleton
CCHDAGO:0016020membrane
CCIBAGO:0030315T-tubule
CCNASGO:0030315T-tubule
CCIDAGO:0031982vesicle
CCIDAGO:0042383sarcolemma
CCNASGO:0042383sarcolemma
CCIBAGO:0043034costamere
CCISSGO:0043034costamere
CCIDAGO:0044291cell-cell contact zone
CCIDAGO:0045121membrane raft
CCHDAGO:0070062extracellular exosome
CCIDAGO:0070062extracellular exosome
BPIBAGO:0043484regulation of RNA splicing
BPISSGO:0043484regulation of RNA splicing
BPISSGO:0051259protein complex oligomerization
BPIMPGO:1901385regulation of voltage-gated calcium channel activity

Gene expression in normal tissue: AHNAK

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in AHNAK


DatabasePathway IDPathway Des.
netpathPathway_EGFR1EGFR1

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD399Selumetinib1
iGMDRD347Y-399831
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in AHNAK

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