RSPH4A


Summary: This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
radial spoke head component 4AMIM:612647Ensembl:ENSG00000111834HGNC:HGNC:21558PA1647255686q22.1

GO terms in RSPH4A


Term TypeEvidence TypeGO Term IDGO Des.
CCISSGO:0001534radial spoke
CCIDAGO:0005634nucleus
CCIDAGO:0005654nucleoplasm
CCIDAGO:0005730nucleolus
CCICGO:0005930axoneme
CCIDAGO:0005930axoneme
CCICGO:0031514motile cilium
BPIMPGO:0003341cilium movement
BPIMPGO:0035082axoneme assembly
MFNDGO:0003674molecular_function

Gene expression in normal tissue: RSPH4A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in RSPH4A


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in RSPH4A

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