VPS13B - vacuolar protein sorting 13 homolog B Gene

Homo sapiens

Also known as CHS1; COH1; BLTP5B

Gene ID: 157680 | Gene type: protein coding

About VPS13B

Cytogenetic location: 8q22.2 Genomic coordinates (GRCh38): 8:99,013,274-99,877,580 (from NCBI)

This gene has 24 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 3.0), ovary (RPKM 2.8) and 25 other tissues.

Summary

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

VPS13B Products(4)

mRNA	Protein	Name
NM_015243.3	NP_056058.2	intermembrane lipid transfer protein VPS13B isoform 3
NM_017890.5	NP_060360.3	intermembrane lipid transfer protein VPS13B isoform 5
NM_152564.5	NP_689777.3	intermembrane lipid transfer protein VPS13B isoform 1
NM_181661.3	NP_858047.2	intermembrane lipid transfer protein VPS13B isoform 4

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	25492866	GOA
involved in Golgi reassembly	IMP IMP: Inferred from mutant phenotype	21865173	GOA
involved in adipose tissue development	IMP IMP: Inferred from mutant phenotype	26358774	GOA
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	32560273	GOA
involved in slow endocytic recycling	IDA IDA: Inferred from direct assay	30962439	GOA
involved in vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	32375900	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	25492866	GOA
located in cis-Golgi network membrane	IDA IDA: Inferred from direct assay	21865173	GOA
located in endoplasmic reticulum-Golgi intermediate compartment membrane	IDA IDA: Inferred from direct assay	21865173	GOA
located in trans-Golgi network membrane	IDA IDA: Inferred from direct assay	21865173	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

VPS13B Protein Structure

Chorein_N

SHR-BD

ATG_C

0
700
1400
2100
2800
3500
4022 a.a.

Protein Preferred Names

Protein Names

intermembrane lipid transfer protein VPS13B

bridge-like lipid transfer protein family member 5B

Related Diseases

Diseases

Alias

Cohen Syndrome

Pepper Syndrome	COH1
Hypotonia, Obesity, And Prominent Incisors	Coh
Chs1, Formerly	Norio Syndrome
Obesity-Hypotonia Syndrome	Prominent Incisors-Obesity-Hypotonia Syndrome
Chs1	Hypotonia-Obesity-Prominent Incisors
Stage 4s Neuroblastoma

Aphthous Stomatitis

Oral Ulcer	Canker Sore
Aphtha	Aphthous Ulceration
Oral Aphthae	Oral Aphthous Ulcer
Canker Sores	Stomatitis, Aphthous
Minor Oral Aphthous Ulceration

Neutropenia

Leukopenia

Dental Caries

Dental Caries Extending Into Pulp	Dental Caries Of Smooth Surface
Dental Caries Pit And Fissure	Smooth Surface Dental Caries
Dental Decay	Carious Teeth
Dental Cavity	Saprodontia
Teeth Decayed	Tooth Caries
Tooth Decay

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Hypotonia

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Neuronal Migration Disorders

Abnormality Of Neuronal Migration	Malformations Of Cortical Development, Group Ii
Neuronal Dysmigration Syndromes

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

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

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Choreoacanthocytosis

Chorea-Acanthocytosis	CHAC
Acanthocytosis With Neurologic Disorder	Levine-Critchley Syndrome
Choreaacanthocytosis	Chorea Acanthocytosis
Neuroacanthocytosis	Levine-Critchley Syndrome, Formerly
Neuroacanthocytosis, Formerly	Choreo-Acanthocytosis
Acanthocytosis Chorea	Chorea Acanthocytosis Syndrome

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Retinitis Pigmentosa 83

RP83	Retinitis Pigmentosa, Type 83

Combined Oxidative Phosphorylation Deficiency 20

COXPD20	Combined Oxidative Phosphorylation Defect Type 20
Oxidative Phosphorylation Deficiency, Combined, Type 20

Morgagni Cataract

Hypermature Cataract

Morgagnian Cataract

Mcleod Syndrome

Mcleod Neuroacanthocytosis Syndrome	MLS
X-Linked Mcleod Syndrome	Mcleod Phenotype
Neuroacanthocytosis, Mcleod Type	Mcleod Syndrome With Or Without Chronic Granulomatous Disease
MCLDS	Mcleod Type Neuroacanthocytosis
Mcleod Syndrome With Chronic Granulomatous Disease	Neuroacanthocytosis Mcleod Type
Blood Group Deletion Syndrome

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4	Scasi
Spinocerebellar Ataxia With Saccadic Intrusions	Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome
Spinocerebellar Ataxia 24	Autosomal Recessive Spinocerebellar Ataxia 4
Sca24	Spinocerebellar Ataxia 24, Formerly
Sca24, Formerly	Spinocerebellar Ataxia Autosomal Recessive 4
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Lens Subluxation

Subluxation Of Lens

Refractive Error

Refractive Errors

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Choreatic Disease

Chorea

Hereditary Chorea

Spastic Ataxia

Spax	Ataxia, Spastic

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-RS15673	VPS13B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	VPS13B	RGD	RGD:1311183
Macaca mulatta	VPS13B	VGNC	VGNC:79339
Felis catus	VPS13B	VGNC	VGNC:66955
Bos taurus	VPS13B	VGNC	VGNC:107021
Canis familiaris	VPS13B	VGNC	VGNC:48275
Mus musculus	VPS13B	MGD	MGI:1916380

Name
Email *

	Sorry, but the email address you supplied was invalid.