• Gene id: 57010

Gene Summary

• Gene Symbol: CABP4   Gene   UCSC   Ensembl
• Aliases: CRSD, CSNB2B
• Gene name: calcium binding protein 4
• Alternate names: calcium-binding protein 4,
• Gene location: 11q13.2 (67452402: 67461773)     Exons: 8     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isofo

Protein Summary

• Protein general information: P57796  
  • Name: Calcium binding protein 4 (CaBP4)
  • Length: 275  
  • Mass: 30433
  • Tissue specificity: Expressed in retina and in the inner hair cells (IHC) of the cochlea.
• Sequence:

  MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPS
  TGEGPAGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYIS
  HRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGR
  ITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH

• Structural information:
  • Protein Domains: (129..16-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (165..20-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (206..24-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR033014  IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000324960
• Other Databases: GeneCards:  CABP4  Malacards:  CABP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044325	ion channel binding	IPI	molecular function
GO:0005246	calcium channel regulator activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0060040	retinal bipolar neuron differentiation	IEA	biological process
GO:0008594	photoreceptor cell morphogenesis	IEA	biological process
GO:0046549	retinal cone cell development	IEA	biological process
GO:0007602	phototransduction	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043195	terminal bouton	TAS	cellular component
GO:0007601	visual perception	IMP	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005509	calcium ion binding	NAS	molecular function
GO:0045202	synapse	TAS	cellular component
GO:0007165	signal transduction	NAS	biological process

Diseases

Associated diseases	References
Congenital stationary night blindness	KEGG:H00787
Congenital stationary night blindness	KEGG:H00787
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881