Entity Details

Primary name CRIPT
Entity type gene
Source Source Link

Details

PrimaryID9419
RefseqGeneNG_034144
SymbolCRIPT
NameCXXC repeat containing interactor of PDZ3 domain
Chromosome2
Location2p21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-04-05
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsCRIPT_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0008017 microtubule binding
GO:0014069 postsynaptic density
GO:0030165 PDZ domain binding
GO:0030425 dendrite
GO:0031122 cytoplasmic microtubule organization
GO:0035372 protein localization to microtubule
GO:0043025 neuronal cell body
GO:0043197 dendritic spine
GO:0043198 dendritic shaft
GO:0044877 protein-containing complex binding
GO:0045184 establishment of protein localization
GO:0097110 scaffold protein binding
GO:1902897 regulation of postsynaptic density protein 95 clustering

Diseases

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Disease IDSourceNameDescription
615789 OMIMShort stature with microcephaly and distinctive facies (SSMCF)An autosomal recessive disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge. The disease is caused by variants affecting the gene represented in this entry.