CABYR (calcium binding tyrosine phosphorylation regulated)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26256
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium binding tyrosine phosphorylation regulated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CABYR
Synonyms (NCBI Gene) Gene synonyms aliases
CABYRa, CABYRc, CABYRc/d, CABYRe, CBP86, CT88, FSP-2, FSP2
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene lo
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT046975 hsa-miR-221-3p CLASH 23622248
MIRT046835 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(30)
GO ID Ontology Definition Evidence Reference
GO:0003351 Process Epithelial cilium movement involved in extracellular fluid movement NAS 18421703
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 11820818
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15752768
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612135 15569 ENSG00000154040
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O75952
Protein name Calcium-binding tyrosine phosphorylation-regulated protein (Calcium-binding protein 86) (Cancer/testis antigen 88) (CT88) (Fibrousheathin II) (Fibrousheathin-2) (FSP-2) (Testis-specific calcium-binding protein CBP86)
Protein function May function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. Isoform 1 binds calcium in vitro. Isoform 2 and isoform 6 probably bind calcium. Isoform 3 and isoform 5 do not bind calc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02197 RIIa 12 → 49 Regulatory subunit of type II PKA R-subunit Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in elongating spermatids and spermatozoa (at protein level). Isoform 1 is expressed in testis. Isoform 3 and isoform 5 are also expressed in brain, pancreas and numerous brain tumors. {ECO:0000269|PubMed:11820818, ECO:0000269
Sequence 
MISSKPRLVVPYGLKTLLEGISRAVLKTNPSNINQFAAAYFQELTMYRGNTTMDIKDLVK
QFHQIKVEKWSEGTTPQKKLECLKEPGKTSVESKVPTQMEKSTDTDEDNVTRTEYSDKTT
QFPSVYAVPGTEQTEAVGGLSSKPATPKTTTPPSSPPPTAVSPEFAYVPADPAQLAAQML
GKVSSIHSDQSDVLMVDVATSMPVVIKEVPSSEAAEDVMVAAPLVCSGKVLEVQVVNQTS
VHVDLGSQPKENEAEPSTASSVPLQDEQEPPAYDQAPEVTLQADIEVMSTVHISSVYNDV
PVTEGVVYIEQLPEQIVIPFTDQVACLKENEQSKENEQSPRVSPKSVVEKTTSGMSKKSV
ESVKLAQLEENAKYSSVYMEAEATALLSDTSLKGQPEVPAQLLDAEGAIKIGSEKSLHLE
VEITSIVSDNTGQEESGENSVPQEMEGKPVLSGEAAEAVHSGTSVKSSSGPFPPAPEGLT
APEIEPEGESTAE
Sequence length 493
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 24278187
Neoplasm Metastasis Associate 28121627
Smoke Inhalation Injury Stimulate 17727719