Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

11 Show/Hide all (11)

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

20 Show/Hide all (20)

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

MIM	HGNC	e!Ensembl
607314	1385	ENSG00000167791

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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 93	Likely pathogenic; Pathogenic	rs368437370, rs776117741, rs950724245, rs149712664, rs1391730624	RCV001780706 RCV002271960 RCV003447918 RCV000790515 RCV001250409	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CABP2-related disorder	Likely pathogenic; Pathogenic	rs950724245, rs149712664	RCV003929198 RCV003947951	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs149712664	RCV001291207	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (7)
AUTISTIC DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 93	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	22981119	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonsyndromic genetic hearing loss	Conflicting classifications of pathogenicity	ClinVar ClinGen	ClinGen report	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 93	Deafness	GENOMICS_ENGLAND_DG	22981119		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 93	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 93	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	22981119, 33666369, 35150090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	22981119, 33666369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	17947313, 22981119, 26226137, 26809054, 28183797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	31661684		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ELMOD3	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
SYNE4	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	7	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinGen (nonsyndromic genetic hearing loss)"]
SLC26A5	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
S1PR2	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Orphanet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
TPRN	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

CABP2 (calcium binding protein 2)

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