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CA9 (carbonic anhydrase 9)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
768
Gene nameGene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 9
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CA9
SynonymsGene synonyms aliases
CAIX, MN
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
SummarySummary 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,
miRNAmiRNA information provided by mirtarbase database.
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
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MAPLCPSPWLPLLIPAPAPGLTVQLLLSLLLLVPVHPQRLPRMQEDSPLGGGSSGEDDPL
GEEDLPSEEDSPREEDPPGEEDLPGEEDLPGEEDLPEVKPKSEEEGSLKLEDLPTVEAPG
DPQEPQNNAHRDKEGDDQSHWRYGGDPPWPRVSPACAGRFQSPVDIRPQLAAFCPALRPL
ELLGFQLPPLPELRLRNNGHSVQLTLPPGLEMALGPGREYRALQLHLHWGAAGRPGSEHT
VEGHRFPAEIHVVHLSTAFARVDEALGRPGGLAVLAAFLEEGPEENSAYEQLLSRLEEIA
EEGSETQVPGLDISALLPSDFSRYFQYEGSLTTPPCAQGVIWTVFNQTVMLSAKQLHTLS
DTLWGPGDSRLQLNFRATQPLNGRVIEAS
FPAGVDSSPRAAEPVQLNSCLAAGDILALVF
GLLFAVTSVAFLVQMRRQHRRGTKGGVSYRPAEVAETGA
Sequence length 459
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Nitrogen metabolism
Metabolic pathways
  Regulation of gene expression by Hypoxia-inducible Factor
Reversible hydration of carbon dioxide
Associated diseases
Causal
Disease name Disease term 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, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 30381462
Unknown
Disease name Disease term dbSNP ID References
Anaplasia Anaplasia 19808899
Breast hyperplasia Atypical Ductal Breast Hyperplasia 20526721
Ductal carcinoma Ductal Carcinoma, Noninfiltrating Intraductal Carcinoma 20526721
Myeloid leukemia Myeloid Leukemia, Chronic 17157168

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