Gene Gene information from NCBI Gene database.
Entrez ID 85300
Gene name ATCAY kinesin light chain interacting caytaxin
Gene symbol ATCAY
Synonyms (NCBI Gene)
BNIP-HCLAC
Chromosome 19
Chromosome location 19p13.3
Summary This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
655
miRTarBase ID miRNA Experiments Reference
MIRT661756 hsa-miR-186-3p HITS-CLIP 19536157
MIRT617739 hsa-miR-4485-5p HITS-CLIP 19536157
MIRT643328 hsa-miR-6747-3p HITS-CLIP 19536157
MIRT617738 hsa-miR-1234-3p HITS-CLIP 19536157
MIRT617737 hsa-miR-7107-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16275660, 16899818, 18628984, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 16899818
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 16899818
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608179 779 ENSG00000167654
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86WG3
Protein name Caytaxin (Ataxia cayman type protein) (BNIP-2-homology) (BNIP-H)
Protein function Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12496 BNIP2 59 187 Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2 Family
PF13716 CRAL_TRIO_2 188 326 Divergent CRAL/TRIO domain Domain
Sequence
Sequence length 371
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
157
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cayman type cerebellar ataxia Pathogenic rs2145248615 RCV001775035
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATCAY-related disorder Likely benign; Benign rs758678492, rs61746441, rs140799527, rs375049279, rs781683142 RCV003949525
RCV003940314
RCV003930658
RCV003955903
RCV003912859
Familial cancer of breast Conflicting classifications of pathogenicity rs147031440 RCV005904685
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Colonic Neoplasms Associate 36273131
Nasal Polyps Associate 33770380
Sleep Apnea Obstructive Associate 33770380