• Gene id: 767

Gene Summary

• Gene Symbol: CA8   Gene   UCSC   Ensembl
• Aliases: CA-RP, CA-VIII, CALS, CAMRQ3, CARP
• Gene name: carbonic anhydrase 8
• Alternate names: carbonic anhydrase-related protein, CA-related protein, carbonate dehydratase, carbonic anhydrase VIII, carbonic anhydrase-like sequence,
• Gene location: 8q12.1 (60281399: 60185411)     Exons: 2     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide).
• OMIM: 114815

SNPs

rs397515541

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

NC_000005.10   g.13902053C>G
NC_000005.9   g.13902162C>G
NG_013081.2   g.47428G>C
NG_013081.1   g.47428G>C
NM_001369.2   c.1730G>C
XM_005248262.3   c.1838G>C
XM_005248262.1   c.1685G>C
XM_017009179.2   c.743G>C
XM_024454388.1   c.743G>C
XM_024454389.1   c.332G>C
XM_0170  

rs397515540

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000005.10   g.13753290del
NC_000005.9   g.13753399del
NG_013081.2   g.196191del
NG_013081.1   g.196191del
NM_001369.2   c.10815del
XM_005248262.3   c.10923del
XM_005248262.1   c.10770del
XM_017009179.2   c.9828del
XM_024454388.1   c.9828del
XM_024454389.1   c.9417del

Protein Summary

• Protein general information: P35219  
  • Name: Carbonic anhydrase related protein (CARP) (Carbonic anhydrase VIII) (CA VIII)
  • Length: 290  
  • Mass: 32973
• Sequence:

  MADLSFIEDTVAFPEKEEDEEEEEEGVEWGYEEGVEWGLVFPDANGEYQSPINLNSREARYDPSLLDVRLSPNYV
  VCRDCEVTNDGHTIQVILKSKSVLSGGPLPQGHEFELYEVRFHWGRENQRGSEHTVNFKAFPMELHLIHWNSTLF
  GSIDEAVGKPHGIAIIALFVQIGKEHVGLKAVTEILQDIQYKGKSKTIPCFNPNTLLPDPLLRDYWVYEGSLTIP
  PCSEGVTWILFRYPLTISQLQIEEFRRLRTHVKGAELVEGCDGILGDNFRPTQPLSDRVIRAAFQ

• Structural information:
  • Protein Domains: (27..28-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR001148  IPR036398  IPR023561  IPR018338  IPR041877  
  • Prosite: PS00162 PS51144
  • CDD: cd03120
  • PDB: 2W2J
  • PDBsum: 2W2J
  • STRING: ENSP00000314407
• Other Databases: GeneCards:  CA8  Malacards:  CA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Cerebellar ataxia, mental retardation	KEGG:H01204
Cerebellar ataxia, mental retardation	KEGG:H01204
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