Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26256
Gene name	Calcium binding tyrosine phosphorylation regulated
Gene symbol	CABYR
Synonyms (NCBI Gene)	CABYRaCABYRcCABYRc/dCABYReCBP86CT88FSP-2FSP2
Chromosome	18
Chromosome location	18q11.2
Summary	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

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046975	hsa-miR-221-3p	CLASH	23622248
MIRT046835	hsa-miR-222-3p	CLASH	23622248

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
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11820818, 18421703
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0017124	Function	SH3 domain binding	NAS	11820818
GO:0019899	Function	Enzyme binding	IPI	21274509
GO:0019904	Function	Protein domain specific binding	IEA
GO:0031514	Component	Motile cilium	IDA	18421703
GO:0031514	Component	Motile cilium	IEA
GO:0035686	Component	Sperm fibrous sheath	IBA
GO:0035686	Component	Sperm fibrous sheath	IDA	11820818
GO:0035686	Component	Sperm fibrous sheath	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048240	Process	Sperm capacitation	IEA
GO:0048240	Process	Sperm capacitation	NAS	11820818
GO:0097228	Component	Sperm principal piece	IEA
GO:0097228	Component	Sperm principal piece	ISS
GO:0097229	Component	Sperm end piece	IEA

MIM	HGNC	e!Ensembl
612135	15569	ENSG00000154040

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

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	BEFREE	25717016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15752768, 17317841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24278187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17317841, 21274509, 24362251, 26843620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17892325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17892325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	31692072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17317841, 21274509, 24362251, 26843620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	17317841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15752768, 17317841, 21274509, 31692072		★★★★★ ★☆☆☆☆ Found in Text Mining only

CABYR (calcium binding tyrosine phosphorylation regulated)