CABP2 (calcium binding protein 2)

Gene

• Entrez ID: 51475
• Gene name: Calcium binding protein 2
• Gene symbol: CABP2
• Synonyms (NCBI Gene): DFNB93
• Chromosome: 11
• Chromosome location: 11q13.2
• Summary: This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138981491	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs149431491	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149712664	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1591077467	CT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020423	hsa-miR-106b-5p	Microarray	17242205
MIRT857210	hsa-miR-3922-5p	CLIP-seq
MIRT857211	hsa-miR-3937	CLIP-seq
MIRT857212	hsa-miR-4753-5p	CLIP-seq
MIRT857213	hsa-miR-4755-3p	CLIP-seq
MIRT2385438	hsa-miR-3150a-3p	CLIP-seq
MIRT2385439	hsa-miR-3175	CLIP-seq
MIRT2385440	hsa-miR-4654	CLIP-seq
MIRT2385441	hsa-miR-4769-5p	CLIP-seq
MIRT2385442	hsa-miR-552	CLIP-seq
MIRT2385443	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005246	Function	Calcium channel regulator activity	IBA
GO:0005246	Function	Calcium channel regulator activity	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	10625670
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	19338761
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	19338761
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	TAS	10625670
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0016020	Component	Membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 607314
• HGNC: 1385
• e!Ensembl: ENSG00000167791

Protein

• UniProt ID: Q9NPB3
• Protein name: Calcium-binding protein 2 (CaBP2)
• Protein function: Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals thr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00036	EF-hand_1	82 → 110	EF hand	Domain
  PF13499	EF-hand_7	155 → 219	EF-hand domain pair	Domain
  PF13833	EF-hand_8	169 → 220	EF-hand domain pair	Domain

• Tissue specificity: TISSUE SPECIFICITY: Retina. {ECO:0000269|PubMed:11108966}.
• Sequence:

  MGNCAKRPWRRGPKDPLQWLGSPPRGSCPSPSSSPKEQGDPAPGVQGYSVLNSLVGPACI
  FLRPSIAATQLDRELRPEEIEELQVAFQEFDRDRDGYIGCRELGACMRTLGYMPTEMELI
  EISQQISGGKVDFEDFVELMGPKLLAETADMIGVRELRDAFREFDTNGDGRISVGELRAA
  LKALLGERLSQREVDEILQDVDLNGDGLVDFEEFVRMMSR

• Sequence length: 220

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal recessive nonsyndromic hearing loss 93	Likely pathogenic; Pathogenic	rs368437370, rs776117741, rs950724245, rs149712664, rs1391730624	RCV001780706 RCV002271960 RCV003447918 RCV000790515 RCV001250409
CABP2-related disorder	Likely pathogenic; Pathogenic	rs950724245, rs149712664	RCV003929198 RCV003947951
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs149712664	RCV001291207

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hearing impairment	Uncertain significance	rs1349245853	RCV001375304
Nonsyndromic genetic hearing loss	Conflicting classifications of pathogenicity	rs145369252	RCV005359595

Associations from Text Mining
Disease Name	Relationship Type	References
Genetic Diseases Inborn	Associate	22981119
Hearing Loss	Associate	22981119, 33666369, 35150090
Hearing Loss Sensorineural	Associate	22981119, 33666369
Nonsyndromic sensorineural hearing loss	Associate	22981119, 33666369, 35150090