CABP4 - calcium binding protein 4 Gene

Homo sapiens

Also known as CRSD; CSNB2B

Gene ID: 57010 | Gene type: protein coding

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	Reference	Source
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	27226626	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

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