CA9 (carbonic anhydrase 9)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
768
Gene name Gene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CA9
Synonyms (NCBI Gene) Gene synonyms aliases
CAIX, MN
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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,
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT027439 hsa-miR-98-5p Microarray 19088304
MIRT028954 hsa-miR-26b-5p Microarray 19088304
MIRT1954468 hsa-miR-1229 CLIP-seq
MIRT1954469 hsa-miR-1245b-3p CLIP-seq
MIRT1954470 hsa-miR-149 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
Transcription factor Regulation Reference
AHR Repression 19154183
ARNT Activation 22387692
ATF4 Unknown 19564335
EP300 Activation 16270297
EPAS1 Activation 12171890
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0004089 Function Carbonate dehydratase activity IBA 21873635
GO:0005515 Function Protein binding IPI 26871637, 32296183
GO:0005730 Component Nucleolus IEA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603179 1383 ENSG00000107159
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q16790
Protein 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)
Protein function Catalyzes the interconversion between carbon dioxide and water and the dissociated ions of carbonic acid (i.e. bicarbonate and hydrogen ions). {ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:17705204, ECO:0000269|PubMed:18703501, ECO:0000269|Pu
PDB 2HKF , 3IAI , 5DVX , 5FL4 , 5FL5 , 5FL6 , 6FE0 , 6FE1 , 6FE2 , 6G98 , 6G9U , 6QN2 , 6QN5 , 6QN6 , 6QUT , 6RQN , 6RQQ , 6RQU , 6RQW , 6TL5 , 6TL6 , 6Y74 , 7POM , 8CO0 , 8Q18 , 8Q19 , 8Q1A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00194 Carb_anhydrase 140 → 389 Eukaryotic-type carbonic anhydrase Domain
Tissue specificity 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 
MAPLCPSPWLPLLIPAPAPGLTVQLLLSLLLLVPVHPQRLPRMQEDSPLGGGSSGEDDPL
GEEDLPSEEDSPREEDPPGEEDLPGEEDLPGEEDLPEVKPKSEEEGSLKLEDLPTVEAPG
DPQEPQNNAHRDKEGDDQSHWRYGGDPPWPRVSPACAGRFQSPVDIRPQLAAFCPALRPL
ELLGFQLPPLPELRLRNNGHSVQLTLPPGLEMALGPGREYRALQLHLHWGAAGRPGSEHT
VEGHRFPAEIHVVHLSTAFARVDEALGRPGGLAVLAAFLEEGPEENSAYEQLLSRLEEIA
EEGSETQVPGLDISALLPSDFSRYFQYEGSLTTPPCAQGVIWTVFNQTVMLSAKQLHTLS
DTLWGPGDSRLQLNFRATQPLNGRVIEASFPAGVDSSPRAAEPVQLNSCLAAGDILALVF
GLLFAVTSVAFLVQMRRQHRRGTKGGVSYRPAEVAETGA
Sequence length 459
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Nitrogen metabolism
Metabolic pathways 		  Regulation of gene expression by Hypoxia-inducible Factor
Reversible hydration of carbon dioxide
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Lung carcinoma Non-Small Cell Lung Carcinoma rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)		 30381462
Show/Hide Text Mining Associations (159)
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Associate 19619339, 26157007, 28028936, 28631600, 30011326, 32560271, 34685701, 36415514, 36524367
Adenocarcinoma Associate 14742261, 26156831, 26525902, 30257286, 32048177, 34636283, 36768903
Adenocarcinoma Stimulate 16495697
Adenocarcinoma Inhibit 28921449
Adenocarcinoma of Lung Associate 19365853
Adenoma Associate 34636283
Adrenocortical Carcinoma Associate 26587828, 36646964
Aneurysm Associate 35055064
Aneurysm Ascending Aorta Associate 27157093
Ankyloglossia Associate 37329213