ATP6V1B2 - ATPase H+ transporting V1 subunit B2 Gene

中文名称：ATPase H+ 转运 V1 亚基 B2

种属: Homo sapiens

同用名: DOOD; HO57; VATB; VPP3; Vma2; ZLS2; ATP6B2; ATP6B1B2

基因 ID: 526 | 基因类型: protein coding

关于 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.

功能概要

该基因编码液泡 ATP 酶 (V-ATPase) 的一个组分，这是一种介导真核细胞内细胞器酸化的多亚基酶。 V-ATPase 依赖性细胞器酸化对于蛋白质分选、酶原激活、受体介导的内吞作用和突触小泡质子梯度生成等细胞内过程是必需的。 V-ATPase 由胞质 V1 结构域和跨膜 V0 结构域组成。 V1 结构域由三个 A、三个 B 和两个 G 亚基以及一个 C、D、E、F 和 H 亚基组成。 V1 域包含 ATP 催化位点。由该基因编码的蛋白质是两个 V1 结构域 B 亚基同种型之一，并且是唯一在破骨细胞中高表达的 B 同种型。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	29993276	GOA
part of vacuolar proton-transporting V-type ATPase, V1 domain	IDA IDA: 通过直接分析推断	33065002	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ATP6V1B2 蛋白结构

ATP-synt_ab_N

ATP-synt_ab

ATP-synt_ab_C

0
100
200
300
400
511 a.a.

蛋白主名

其他名称

V-type proton ATPase subunit B, brain isoform

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

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01225	ATP6V1B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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