VPS13B - vacuolar protein sorting 13 homolog B Gene

Also Known as CHS1; COH1; BLTP5B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 157680

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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15673	VPS13B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29478	Vps13b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	VPS13B	NCBI