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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cayman type cerebellar ataxia Pathogenic rs2145248615 RCV001775035
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATCAY-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, CAYMAN TYPE CTD, Disgenet, HPO, Orphanet
CTD, Disgenet, HPO, Orphanet
CTD, Disgenet, HPO, Orphanet
CTD, Disgenet, HPO, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
CEREBELLAR ATAXIA, CAYMAN TYPE Cerebellar Ataxia UNIPROT_DG 14556008
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, CAYMAN TYPE Cerebellar Ataxia ORPHANET_DG 14556008
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, CAYMAN TYPE Cerebellar Ataxia GENOMICS_ENGLAND_DG 14556008
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, CAYMAN TYPE Cerebellar Ataxia BEFREE 16899818
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia, Cayman type Cerebellar Ataxia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, CAYMAN TYPE Cerebellar Ataxia CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 36273131 Associate
★☆☆☆☆
Found in Text Mining only
Dysarthria Dysarthria HPO_DG
★☆☆☆☆
Found in Text Mining only
Dystonia Disorders Dystonia BEFREE 16246457, 23226316
★☆☆☆☆
Found in Text Mining only