• Gene id: 526

Gene Summary

• Gene Symbol: ATP6V1B2   Gene   UCSC   Ensembl
• Aliases: ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2
• Gene name: ATPase H+ transporting V1 subunit B2
• Alternate names: V-type proton ATPase subunit B, brain isoform, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2, H+ transporting two-sector ATPase, V-ATPase B2 subunit, V-ATPase subunit B 2, endomembrane proton pump 58 kDa subunit, testicular secretory protein Li 65, ,
• Gene location: 8p21.3 (156248521: 156243319)     Exons: 9     NC_000001.11
• Gene summary(Entrez): 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 sort
• OMIM: 606939

SNPs

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs2231829

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs11594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

Protein Summary

• Protein general information: P21281  
  • Name: V type proton ATPase subunit B, brain isoform (V ATPase subunit B 2) (Endomembrane proton pump 58 kDa subunit) (HO57) (Vacuolar proton pump subunit B 2)
  • Length: 511  
  • Mass: 56501
• Sequence:

  MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVILDHVKFPRYAEIVHLT
  LPDGTKRSGQVLEVSGSKAVVQVFEGTSGIDAKKTSCEFTGDILRTPVSEDMLGRVFNGSGKPIDRGPVVLAEDF
  LDIMGQPINPQCRIYPEEMIQTGISAIDGMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKDVVDYSEE
  NFAIVFAAMGVNMETARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDM
  SSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQIPILTMPNDDITHPIPDLTGYITEG
  QIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSNQLYACYAIGKDVQAMKAVVGEEALTSDDLL
  YLEFLQKFERNFIAQGPYENRTVFETLDIGWQLLRIFPKEMLKRIPQSTLSEFYPRDSAKH

• Structural information:
  • Interpro: IPR020003  IPR004100  IPR000194  IPR005723  IPR027417   IPR022879  
  • Prosite: PS00152
  • DIP: 47433
  • STRING: ENSP00000276390
• Other Databases: GeneCards:  ATP6V1B2  Malacards:  ATP6V1B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0033180	proton-transporting V-type ATPase, V1 domain	IEA	cellular component
GO:0046034	ATP metabolic process	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015078	proton transmembrane transporter activity	TAS	molecular function
GO:0046961	proton-transporting ATPase activity, rotational mechanism	TAS	molecular function
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005902	microvillus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005886	plasma membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa04150	mTOR signaling pathway
hsa00190	Oxidative phosphorylation
hsa04145	Phagosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Zimmermann-Laband syndrome	KEGG:H01573
DDOD syndrome	KEGG:H02219
Zimmermann-Laband syndrome	KEGG:H01573
DDOD syndrome	KEGG:H02219
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881