• Gene id: 768

Gene Summary

• Gene Symbol: CA9   Gene   UCSC   Ensembl
• Aliases: CAIX, MN
• Gene name: carbonic anhydrase 9
• Alternate names: carbonic anhydrase 9, CA-IX, P54/58N, RCC-associated antigen G250, RCC-associated protein G250, carbonate dehydratase IX, carbonic anhydrase IX, carbonic dehydratase, membrane antigen MN, pMW1, renal cell carcinoma-associated antigen G250,
• Gene location: 9p13.3 (67873051: 67884498)     Exons: 29     NC_000016.10
• 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: 603179

SNPs

rs397515414

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

NC_000016.10   g.71137272T>A
NC_000016.9   g.71171175T>A
NG_033116.2   g.98451A>T
NM_017558.5   c.922A>T
NM_017558.4   c.922A>T
NM_001270974.2   c.922A>T
NM_001270974.1   c.922A>T
NM_001198542.1   c.1003A>T
NM_001198543.1   c.973A>T
XM_006721206.3   c.973A>T
XM_01152314  

rs397515413

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

NC_000016.10   g.70988133C>A
NC_000016.9   g.71022036C>A
NG_033116.2   g.247590G>T
NM_001270974.2   c.3985G>T
NM_001270974.1   c.3985G>T
XM_006721206.3   c.4036G>T
XM_011523146.2   c.4168G>T
XM_017023346.2   c.4105G>T
XM_011523151.2   c.4066G>T
XM_011523148.1   c.4087G>

rs1918690

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

NC_000002.12   g.84679791T>A
NC_000002.12   g.84679791T>C
NC_000002.11   g.84906915T>A
NC_000002.11   g.84906915T>C
NG_050957.1   g.225252T>A
NG_050957.1   g.225252T>C|SEQ=[T/A/C]|GENE=DNAH6

Protein Summary

• Protein general information: Q16790  
  • Name: Carbonic anhydrase 9 (EC 4.2.1.1) (Carbonate dehydratase IX) (Carbonic anhydrase IX) (CA IX) (CAIX) (Membrane antigen MN) (P54/58N) (Renal cell carcinoma associated antigen G250) (RCC associated antigen G250) (pMW1)
  • Length: 459  
  • Mass: 49698
  • Tissue specificity: Expressed primarily in carcinoma cells lines. Expression is restricted to very few normal tissues and the most abundant expression is found in the epithelial cells of gastric mucosa.
• Sequence:

  MAPLCPSPWLPLLIPAPAPGLTVQLLLSLLLLVPVHPQRLPRMQEDSPLGGGSSGEDDPLGEEDLPSEEDSPREE
  DPPGEEDLPGEEDLPGEEDLPEVKPKSEEEGSLKLEDLPTVEAPGDPQEPQNNAHRDKEGDDQSHWRYGGDPPWP
  RVSPACAGRFQSPVDIRPQLAAFCPALRPLELLGFQLPPLPELRLRNNGHSVQLTLPPGLEMALGPGREYRALQL
  HLHWGAAGRPGSEHTVEGHRFPAEIHVVHLSTAFARVDEALGRPGGLAVLAAFLEEGPEENSAYEQLLSRLEEIA
  EEGSETQVPGLDISALLPSDFSRYFQYEGSLTTPPCAQGVIWTVFNQTVMLSAKQLHTLSDTLWGPGDSRLQLNF
  RATQPLNGRVIEASFPAGVDSSPRAAEPVQLNSCLAAGDILALVFGLLFAVTSVAFLVQMRRQHRRGTKGGVSYR
  PAEVAETGA

• Structural information:
  • Protein Domains: (139..39-)
    (/note="Alpha-carbonic-anhydrase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01134"-)
  • Interpro: IPR018429  IPR001148  IPR036398  IPR023561  IPR018338  
  • Prosite: PS00162 PS51144
  • PDB: 2HKF 3IAI 5DVX 5FL4 5FL5 5FL6 6FE0 6FE1 6FE2 6G98 6G9U 6RQN 6RQQ 6RQU 6RQW
  • PDBsum: 2HKF 3IAI 5DVX 5FL4 5FL5 5FL6 6FE0 6FE1 6FE2 6G98 6G9U 6RQN 6RQQ 6RQU 6RQW
  • DIP: 48973
  • STRING: ENSP00000367608
• Other Databases: GeneCards:  CA9  Malacards:  CA9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0004089	carbonate dehydratase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016836	hydro-lyase activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
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:0016829	lyase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0005886	plasma membrane	TAS	cellular component
GO:0015701	bicarbonate transport	TAS	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0046903	secretion	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0002009	morphogenesis of an epithelium	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031528	microvillus membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00910	Nitrogen metabolism

Diseases

Associated diseases	References
Endometrial hyperplasia	PMID:17452774
urinary bladder cancer	PMID:14520462
Transitional cell carcinoma	PMID:15069539
Breast carcinoma	PMID:17245699
renal cell carcinoma	PMID:18464292
renal cell carcinoma	PMID:12966427
renal cell carcinoma	PMID:12883698
renal cell carcinoma	PMID:11506497
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R