CA9 (carbonic anhydrase 9)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 768
Gene name Carbonic anhydrase 9
Gene symbol CA9
Synonyms (NCBI Gene)
CAIXMN
Chromosome 9
Chromosome location 9p13.3
Summary 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.
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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 Transcription factors information provided by TRRUST V2 database.
13
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
AHR Repression 19154183
ARNT Activation 22387692
ATF4 Unknown 19564335
EP300 Activation 16270297
EPAS1 Activation 12171890
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0004089 Function Carbonate dehydratase activity IBA
GO:0004089 Function Carbonate dehydratase activity IDA 18703501, 19805286
GO:0004089 Function Carbonate dehydratase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603179 1383 ENSG00000107159
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANAPLASIA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, DUCTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, INTRADUCTAL, NONINFILTRATING — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (253)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 17452775, 19008051
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26525902, 28638459, 28921449, 30797490
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29290263
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12854129
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 31383958
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 26587828, 36646964 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 26960282
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 28075522
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia CTD_human_DG 19808899
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anaplasia Anaplasia BEFREE 30322727
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations