ATP6V1B2 - ATPase H+ transporting V1 subunit B2 Gene

Homo sapiens

Also known as DOOD; HO57; VATB; VPP3; Vma2; ZLS2; ATP6B2; ATP6B1B2

Gene ID: 526 | Gene type: protein coding

About ATP6V1B2

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:20,197,381-20,221,696 (from NCBI)

This gene has 6 transcripts (splice variants), 280 orthologues, 4 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 48.6), kidney (RPKM 28.3) and 24 other tissues.

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]

ATP6V1B2 Products(1)

mRNA	Protein	Name
NM_001693.4	NP_001684.2	V-type proton ATPase subunit B, brain isoform

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	29993276	GOA
part of vacuolar proton-transporting V-type ATPase, V1 domain	IDA IDA: Inferred from direct assay	33065002	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

ATP6V1B2 Protein Structure

ATP-synt_ab_N

ATP-synt_ab

ATP-synt_ab_C

0
100
200
300
400
511 a.a.

Protein Preferred Names

Protein Names

V-type proton ATPase subunit B, brain isoform

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2

Related Diseases

Diseases

Alias

Deafness, Congenital, With Onychodystrophy, Autosomal Dominant

Ddod Syndrome	DDOD
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Robinson Miller Bensimon Syndrome
Autosomal Dominant Deafness - Onychodystrophy Syndrome	Autosomal Dominant Congenital Deafness With Onychodystrophy
Deafness And Onychodystrophy, Dominant Form	Familial Ectodermal Dysplasia With Sensori-Neural Deafness And Other Anomalies
Robinson-Miller-Bensimon Syndrome	Autosomal Dominant Hearing Loss-Onychodystrophy Syndrome
Deafness, Congenital, And Onychodystrophy, Autosomal Dominant

Zimmermann-Laband Syndrome 2

ZLS2

Zimmermann-Laband Syndrome

Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome	Laband Syndrome
Zimmerman Laband Syndrome

Zimmermann-Laband Syndrome 1

Laband Syndrome	ZLS1
Fibromatosis, Gingival, With Abnormal Fingers, Fingernails, Nose, And Ears, And Splenomegaly	Zimmerman Laband Syndrome
Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies	Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose And Ears, And Splenomegaly
Zls	Zimmerman-Laband Syndrome
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose And Ears And Splenomegaly	Zimmermann Laband Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Hypertrichosis

Developmental And Epileptic Encephalopathy 33

DEE33	Epileptic Encephalopathy, Early Infantile, 33
Eiee33	Developmental And Epileptic Encephalopathy, 33
Early Infantile Epileptic Encephalopathy 33	Encephalopathy, Epileptic, Early Infantile, Type 33

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Pigmented Villonodular Synovitis

Diffuse Giant Cell Tumor Of Tenosynovium	Villous Tenosynovitis
Diffuse Pigmented Villonodular Synovitis	Diffuse-Type Gct
Diffuse-Type Giant Cell Tumor	Localized Pigmented Villonodular Synovitis
Tgct	Tsgct
Tenosynovial Giant Cell Tumor	Tenosynovial Giant Cell Tumors
Synovitis Pigmented Villonodular	Synovitis, Pigmented Villonodular
Fibrous Histiocytoma Of Tendon Sheath	Testicular Germ Cell Tumor
Chronic Haemorrhagic Villous Synovitis	Pvns - [Pigmented Villonodular Synovitis]
Villonodular Synovitis

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Generalized Epilepsy With Febrile Seizures Plus

Gefs+	Genetic Epilepsy With Febrile Seizures Plus
Generalized Epilepsy With Febrile Seizures-Plus	Genetic Epilepsy With Febrile Seizures-Plus
Epilepsy, Generalized, With Febrile Seizures Plus

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-RS01225	ATP6V1B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ATP6V1B2	VGNC	VGNC:68674
Canis familiaris	ATP6V1B2	VGNC	VGNC:38277
Macaca mulatta	ATP6V1B2	VGNC	VGNC:70185
Bos taurus	ATP6V1B2	VGNC	VGNC:26318
Mus musculus	ATP6V1B2	MGD	MGI:109618
Rattus norvegicus	ATP6V1B2	RGD	RGD:620284

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