CABP4 - calcium binding protein 4 Gene

Also Known as CRSD; CSNB2B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57010

About CABP4

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,452,403-67,461,752 (from NCBI)

This gene has 7 transcripts (splice variants), 149 orthologues, 20 paralogues and is associated with 4 phenotypes. Biased expression in spleen (RPKM 2.4), prostate (RPKM 0.5) and 12 other tissues.

Summary

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 isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

CABP4 Products (4)

mRNA	Protein	Name
NM_001300895.3	NP_001287824.1	calcium-binding protein 4 isoform b
NM_001300896.3	NP_001287825.1	calcium-binding protein 4 isoform b
NM_001379183.1	NP_001366112.1	calcium-binding protein 4 isoform b
NM_145200.5	NP_660201.1	calcium-binding protein 4 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	27226626	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in visual perception	IMP IMP: Inferred from mutant phenotype	16960802	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	19338761	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CABP4 Protein Structure

EF-hand_1

EF-hand_7

0
100
200
275 a.a.

Protein Preferred Names	Protein Names
calcium-binding protein 4

Related Diseases

Diseases	Alias
Cone-Rod Synaptic Disorder, Congenital Nonprogressive	Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive CRSD CRSDS Night Blindness, Congenital Stationary, Type 2b Night Blindness, Congenital Stationary, Type 2b, Formerly Csnb2b, Formerly Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive, Formerly Cone-Rod Synaptic Disorder Syndrome, Congenital Non-Progressive Cone-Rod Synaptic Disorder, Congenital Non-Progressive Csnb2b Incomplete Autosomal Recessive Csnb Incomplete Congenital Stationary Night Blindness Autosomal Recessive Night Blindness, Congenital Stationary, 2b
Autosomal Recessive Congenital Stationary Night Blindness	Autosomal Recessive Complete Congenital Stationary Night Blindness Autosomal Recessive Incomplete Congenital Stationary Night Blindness Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Aland Island Eye Disease	AIED Forsius-Eriksson Type Ocular Albinism Forsius-Eriksson Syndrome Autoimmune Inner Ear Disease Forsius Eriksson Type Ocular Albinism Aland Islands Eye Disease Aaland Island Eye Disease Ocular Albinism, Type Ii
Night Blindness	Nyctalopia
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Retinal Cone Dystrophy 4	RCD4 Doid:0081023 Dystrophy, Retinal Cone, Type 4
Night Blindness, Congenital Stationary, Type 1c	Congenital Stationary Night Blindness 1c CSNB1C Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1c, Autosomal Recessive Congenital Stationary Night Blindness 1c Autosomal Recessive Night Blindness, Congenital Stationary, 1c Complete Autosomal Recessive Csnb Night Blindness, Congenital Stationary, Type Ic Blindness, Night, Stationary, Congenital, Type 1c
Cone-Rod Dystrophy 7	CORD7 Dystrophy, Cone-Rod, Type 7 Retinitis Pigmentosa 7
Night Blindness, Congenital Stationary, Type 1a	Congenital Stationary Night Blindness 1a CSNB1A Hemeralopia-Myopia Myopia-Night Blindness Night Blindness, Congenital Stationary , 1a, X-Linked Congenital Stationary Night Blindness With Myopia Csnb, Complete, X-Linked Night Blindness, Congenital Stationary, With Myopia Nbm1 Complete Csnb X-Linked Congenital Stationary Night Blindness 1a X-Linked Nbmi Night Blindness, Congenital Stationary, 1a Complete X-Linked Csnb Nyctalopia Xlcsnb X-Linked Congenital Stationary Night Blindness Blindness, Night, Stationary, Congenital, Type 1a Night Blindness X-Linked Csnb Night Blindness, Congenital Stationary, Type 2a
Abnormal Threshold Of Rods	Abnormal Dark Adaptation Curve
Cone-Rod Dystrophy, X-Linked, 3	CORDX3 X-Linked Cone-Rod Dystrophy 3 Cone-Rod Dystrophy X-Linked 3 Cone-Rod Dystrophy, X-Linked 3 Dystrophy, Cone-Rod, X-Linked, Type 3
Cone-Rod Dystrophy 3	CORD3 Dystrophy, Cone Rod, Type 3
Conjugate Gaze Palsy	Palsy Of Conjugate Gaze Supranuclear Ocular Palsy Gaze Palsy
Deafness, Autosomal Recessive 93	DFNB93 Autosomal Recessive Nonsyndromic Deafness 93 Autosomal Recessive Deafness 93 Deafness, Autosomal Recessive, 93 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93 Deafness, Autosomal Recessive, Type 93
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Cone-Rod Dystrophy 5	CORD5 Dystrophy, Cone-Rod, Type 5
Nephronophthisis 4	NPHP4 Juvenile Nephronophthisis 4 Nephronophthisis 4, Juvenile Nephronophthisis, Type 4
Night Blindness, Congenital Stationary, Type 1b	Congenital Stationary Night Blindness 1b CSNB1B Night Blindness, Congenital Stationary, Complete, Autosomal Recessive Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1b, Autosomal Recessive Autosomal Recessive Complete Congenital Stationary Night Blindness Congenital Stationary Night Blindness 1b Autosomal Recessive Night Blindness, Congenital Stationary, 1b Complete Autosomal Recessive Csnb Complete Congenital Stationary Night Blindness Autosomal Recessive Blindness, Night, Stationary, Congenital, Type 1b
Oguchi Disease 1	Oguchi Disease-1 CSNBO1 Night Blindness, Congenital Stationary, Oguchi Type 1 Congenital Stationary Night Blindness Oguchi Type 1 Oguchi Disease
Cone-Rod Dystrophy 6	CORD6 Retinal Cone Dystrophy 2 Rcd2 Dystrophy, Cone-Rod, Type 6 Retinitis Pigmentosa 6 Progressive Cone Degeneration Cone Dystrophy
Oguchi Disease 2	Oguchi Disease-2 CSNBO2 Night Blindness, Congenital Stationary, Oguchi Type 2 Congenital Stationary Night Blindness Oguchi Type 2
Enophthalmos
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Refractive Error	Refractive Errors
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01785	CABP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CABP4	MGD	MGI:1920910
Macaca mulatta	CABP4	VGNC	VGNC:70497
Bos taurus	CABP4	VGNC	VGNC:26666
Felis catus	CABP4	VGNC	VGNC:60287
Canis familiaris	CABP4	VGNC	VGNC:38625
Rattus norvegicus	CABP4	RGD	RGD:1306083
Others	CABP4	NCBI