• Gene id: 766

Gene Summary

• Gene Symbol: CA7   Gene   UCSC   Ensembl
• Aliases: CA-VII, CAVII
• Gene name: carbonic anhydrase 7
• Alternate names: carbonic anhydrase 7, carbonate dehydratase VII, carbonic anhydrase VII, carbonic dehydratase VII,
• Gene location: 16q22.1 (66844413: 66854148)     Exons: 9     NC_000016.10
• Gene summary(Entrez): Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and th
• OMIM: 616189

SNPs

rs10848911

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

NC_000012.12   g.3705072G>A
NC_000012.12   g.3705072G>T
NC_000012.11   g.3814238G>A
NC_000012.11   g.3814238G>T|SEQ=[G/A/T]|GENE=CRACR2A

rs148454792

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

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

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

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs4938723

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

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

Protein Summary

• Protein general information: P43166  
  • Name: Carbonic anhydrase 7 (EC 4.2.1.1) (Carbonate dehydratase VII) (Carbonic anhydrase VII) (CA VII)
  • Length: 264  
  • Mass: 29658
• Sequence:

  MTGHHGWGYGQDDGPSHWHKLYPIAQGDRQSPINIISSQAVYSPSLQPLELSYEACMSLSITNNGHSVQVDFNDS
  DDRTVVTGGPLEGPYRLKQFHFHWGKKHDVGSEHTVDGKSFPSELHLVHWNAKKYSTFGEAASAPDGLAVVGVFL
  ETGDEHPSMNRLTDALYMVRFKGTKAQFSCFNPKCLLPASRHYWTYPGSLTTPPLSESVTWIVLREPICISERQM
  GKFRSLLFTSEDDERIHMVNNFRPPQPLKGRVVKASFRA

• Structural information:
  • Protein Domains: (5..26-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR041890  IPR001148  IPR036398  IPR023561  IPR018338  
  • Prosite: PS00162 PS51144
  • CDD: cd03149
  • PDB: 3MDZ 3ML5 6G4T 6H36 6H37 6H38
  • PDBsum: 3MDZ 3ML5 6G4T 6H36 6H37 6H38
  • STRING: ENSP00000345659
• Other Databases: GeneCards:  CA7  Malacards:  CA7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004089	carbonate dehydratase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032849	positive regulation of cellular pH reduction	IEA	biological process
GO:0032230	positive regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:2001225	regulation of chloride transport	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881