• Gene id: 771

Gene Summary

• Gene Symbol: CA12   Gene   UCSC   Ensembl
• Aliases: CA-XII, CAXII, HsT18816, T18816
• Gene name: carbonic anhydrase 12
• Alternate names: carbonic anhydrase 12, carbonate dehydratase XII, carbonic anhydrase XII, carbonic dehydratase, tumor antigen HOM-RCC-3.1.3,
• Gene location: 15q22.2 (63382109: 63321377)     Exons: 11     NC_000015.10
• Gene summary(Entrez): Carbonic anhydrases (CAs) 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,
• OMIM: 603263

SNPs

rs36065902

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

NC_000017.11   g.41841870A>T
NW_003571052.1   g.128512A>T
NG_051246.1   g.11186A>T
NM_152467.5   c.242A>T
NM_152467.4   c.242A>T
NM_152467.3   c.242A>T
NM_001329596.2   c.-23A>T
NM_001329596.1   c.-23A>T
NM_001329595.1   c.242A>T
NC_000017.10   g.39998122A>T
NP_689680.2  

rs61752339

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

NC_000017.11   g.41845328T>C
NW_003571052.1   g.131970T>C
NG_051246.1   g.14644T>C
NM_152467.5   c.887T>C
NM_152467.4   c.887T>C
NM_152467.3   c.887T>C
NM_001329596.2   c.623T>C
NM_001329596.1   c.623T>C
NM_001329595.1   c.887T>C
NC_000017.10   g.40001580T>C
NP_689680.2  

Protein Summary

• Protein general information: O43570  
  • Name: Carbonic anhydrase 12 (EC 4.2.1.1) (Carbonate dehydratase XII) (Carbonic anhydrase XII) (CA XII) (Tumor antigen HOM RCC 3.1.3)
  • Length: 354  
  • Mass: 39451
  • Tissue specificity: Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis. E
• Sequence:

  MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLE
  FQGYNLSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYN
  SDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSL
  TTPPCNPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQVQVCTAAGL
  SLGIILSLALAGILGICIVVVVSIWLFRRKSIKKGDNKGVIYKPATKMETEAHA

• Structural information:
  • Protein Domains: (30..28-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR001148  IPR036398  IPR023561  IPR018338  IPR018430  
  • Prosite: PS00162 PS51144
  • PDB: 1JCZ 1JD0 4HT2 4KP5 4KP8 4Q0L 4QJ0 4QJO 4QJW 4WW8 5LL5 5LL9 5LLO 5LLP 5MSA 5MSB 6G5L 6G7A 6RPS
  • PDBsum: 1JCZ 1JD0 4HT2 4KP5 4KP8 4Q0L 4QJ0 4QJO 4QJW 4WW8 5LL5 5LL9 5LLO 5LLP 5MSA 5MSB 6G5L 6G7A 6RPS
  • STRING: ENSP00000178638
• Other Databases: GeneCards:  CA12  Malacards:  CA12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004089	carbonate dehydratase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0055064	chloride ion homeostasis	IMP	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008270	zinc ion binding	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Hyperchlorhidrosis isolated	KEGG:H01302
Hyperchlorhidrosis isolated	KEGG:H01302
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq