• Gene id: 770

Gene Summary

• Gene Symbol: CA11   Gene   UCSC   Ensembl
• Aliases: CA-RP, CA-RP II, CA-XI, CARP-2, CARPX1
• Gene name: carbonic anhydrase 11
• Alternate names: carbonic anhydrase-related protein 11, carbonic anhydrase XI, carbonic anhydrase-related protein 2, carbonic anhydrase-related protein XI,
• Gene location: 19q13.33 (48646186: 48637945)     Exons: 6     NC_000019.10
• 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: 611261

SNPs

rs7099208

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

NC_000010.11   g.114894815A>G
NC_000010.10   g.116654574A>G|SEQ=[A/G]|GENE=FAM160B1

rs13181

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

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

Protein Summary

• Protein general information: O75493  
  • Name: Carbonic anhydrase related protein 11 (CA RP XI) (CA XI) (CARP XI) (Carbonic anhydrase related protein 2) (CA RP II) (CARP 2)
  • Length: 328  
  • Mass: 36238
  • Tissue specificity: Expressed abundantly in the brain with moderate expression also present in spinal cord and thyroid.
• Sequence:

  MGAAARLSAPRALVLWAALGAAAHIGPAPDPEDWWSYKDNLQGNFVPGPPFWGLVNAAWSLCAVGKRQSPVDVEL
  KRVLYDPFLPPLRLSTGGEKLRGTLYNTGRHVSFLPAPRPVVNVSGGPLLYSHRLSELRLLFGARDGAGSEHQIN
  HQGFSAEVQLIHFNQELYGNFSAASRGPNGLAILSLFVNVASTSNPFLSRLLNRDTITRISYKNDAYFLQDLSLE
  LLFPESFGFITYQGSLSTPPCSETVTWILIDRALNITSLQMHSLRLLSQNPPSQIFQSLSGNSRPLQPLAHRALR
  GNRDPRHPERRCRGPNYRLHVDGVPHGR

• Structural information:
  • Protein Domains: (33..30-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR041878  IPR001148  IPR036398  IPR023561  
  • Prosite: PS51144
  • CDD: cd03121
  • STRING: ENSP00000084798
• Other Databases: GeneCards:  CA11  Malacards:  CA11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0004089	carbonate dehydratase activity	TAS	NOT|molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq