ATP6V1B2 - ATPase H+ transporting V1 subunit B2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 526

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	References	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

ATP6V1B2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP6V1B2	P21281	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	ATP6V1B2	P21281	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	ATP6V1B2	P21281	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Cross	ATP6V1B2	P21281	P0DTD1-PRO_0000449620	SARS-CoV-2	P0DTD1-PRO_0000449620	BLI	34159380
Intra	ATP6V1B2	P21281	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
Intra	ATP6V1B2	P21281	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
Intra	ATP6V1B2	P21281	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
Intra	ATP6V1B2	P21281	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	ATP6V1B2	P21281	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	ATP6V1B2	P21281	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	ATP6V1B2	P21281	NEFL	Homo sapiens	P07196	Y2H Pooling	32814053
Intra	ATP6V1B2	P21281	NEFL	Homo sapiens	P07196	Validated Y2H	32814053
Intra	ATP6V1B2	P21281	NEFL	Homo sapiens	P07196	Y2H Array	32814053
Intra	ATP6V1B2	P21281	TCF4	Homo sapiens	P15884	Y2H Array	25416956
Intra	ATP6V1B2	P21281	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	ATP6V1B2	P21281	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	ATP6V1B2	P21281	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	ATP6V1B2	P21281	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
Intra	ATP6V1B2	P21281	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
Intra	ATP6V1B2	P21281	GFAP	Homo sapiens	P14136	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	ATP6V1B2	NCBI