ATP6V1B2 Chromosome 8

ATPase H+ transporting V1 subunit B2

13 variants 13 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"V-type ATPase subunits|ATPase F1/V1 alpha/A and beta/B subunit family"

Locus Type

gene with protein product

Location

8p21.3

Ensembl

ENSG00000147416

Associated Conditions (8)

Inborn genetic diseases

Intellectual disability

Autosomal dominant deafness - onychodystrophy syndrome

Neurodevelopmental delay

Zimmermann-Laband syndrome 2

Zimmermann-Laband syndrome with epileptic encephalopathy

ATP6V1B2 related neurodevelopmental disorders

Zimmermann-Laband syndrome 1

Key Variants

RS141260471

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS368412428

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS376671385

Conflicting classifications of pathogenicity

Inborn genetic diseases, Intellectual disability, Inborn genetic diseases

Health Risk

RS794729667

Conflicting classifications of pathogenicity

Autosomal dominant deafness - onychodystrophy syndrome, Neurodevelopmental delay, Zimmermann-Laband syndrome 2

Health Risk

Health Risk

Health Risk

Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2

Health Risk

Health Risk

Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2

Health Risk

RS2486461841

Likely pathogenic

Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2

Health Risk

RS1585256207

Pathogenic

Zimmermann-Laband syndrome with epileptic encephalopathy, Zimmermann-Laband syndrome with epileptic encephalopathy

Health Risk

RS2128886555

Pathogenic

Health Risk

All Variants (13)

RSID	Category	Clinical Significance	Conditions
RS141260471	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS368412428	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS376671385	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
RS794729667	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant deafness - onychodystrophy syndrome, Neurodevelopmental delay, Zimmermann-Laband syndrome 2
RS1057517879	Health Risk	Likely pathogenic	—
RS1131691864	Health Risk	Likely pathogenic	—
RS1135401772	Health Risk	Likely pathogenic	Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2
RS1554545462	Health Risk	Likely pathogenic	—
RS2486443112	Health Risk	Likely pathogenic	Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2
RS2486461841	Health Risk	Likely pathogenic	Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2
RS1585256207	Health Risk	Pathogenic	Zimmermann-Laband syndrome with epileptic encephalopathy, Zimmermann-Laband syndrome with epileptic encephalopathy
RS2128886555	Health Risk	Pathogenic	ATP6V1B2 related neurodevelopmental disorders, Zimmermann-Laband syndrome 2, ATP6V1B2 related neurodevelopmental disorders
RS730882177	Health Risk	Pathogenic	Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 2