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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CA9 Gene

protein-coding GIFtS: 68
GCID: GC09P035673

carbonic anhydrase IX

Explore 70 diseases affiliated with
CA9 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Carbonic Anhydrase IX¹ ² ³		PMW1¹
MN¹ ² ³ ⁵		RCC-Associated Antigen G250² ³
CAIX¹ ² ³		Carbonic Anhydrase 9²
Carbonate Dehydratase IX² ³		Carbonic Dehydratase²
Membrane Antigen MN² ³		RCC-Associated Protein G250²
Renal Cell Carcinoma-Associated Antigen G250² ³		EC 4.2.1.1³
CA-IX² ³		G250³
P54/58N² ³

External Ids:	HGNC: 1383¹	Entrez Gene: 768²	Ensembl: ENSG00000107159⁷	OMIM: 603179⁵	UniProtKB: Q16790³

Export aliases for CA9 gene to outside databases

Previous GC identifers: GC09P035986 GC09P035843 GC09P035663 GC09P035629

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CA9:

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, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show

extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and

the only tumor-associated carbonic anhydrase isoenzyme known. It is expressed in all clear-cell renal cell carcinoma,

but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and

transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid

mapping localized it to 9p13-p12. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790

Function: Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell

proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia

summary for CA9:

Carbonic anhydrases�are zinc-containing enzymes belonging to the lyases family, and are primarily

responsible for catalyzing the reversible hydration of carbon dioxide to form bicarbonate (HCO3-) and

hydrogen (H+) ions. There are several different carbonic anhydrase isoforms; these can be broadly grouped

into cytosolic (CA I, CA II, CA III, CA VII, CA XIII), mitochondrial (CA VA, CA VB), secreted (CA VI) and

membrane-associated (CA IV, CA IX, CA XII, CA XIV) carbonic anhydrases. The functions of the remaining

carbonic anhydrases are yet to be elucidated. Expression of the membrane-bound carbonic anhydrase, CA IX,

has been reported in hypoxic tumors where its activity is linked to promoting survival of tumor cells and

aiding�cancer�progression. This is thought to occur through the carbonic anhyrase-mediated production of

bicarbonate ions, which neutralizes the abnormally acidic pH of the extracellular environment induced during

hypoxia. Furthermore, as CA IX is a hypoxia- and HIF-1-inducible enzyme, its expression can be used as a

biomarker for hypoxic tumors.

Gene Wiki entry for CA9 (Carbonic anhydrase 9)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CA9 gene promoter:
PPAR-alpha Sp1 p300 Nkx2-5 Tal-1beta LCR-F1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CA9 promoter sequence

Search SABiosciences Chromatin IP Primers for CA9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CA9

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.3 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p13.3

CA9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA9 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P035673: view genomic region (about GC identifiers)

Start:	35,673,853 bp from pter	End:	35,681,156 bp from pter
Size:	7,304 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790 (See protein sequence)

Recommended Name: Carbonic anhydrase 9 precursor

Size: 459 amino acids; 49698 Da

Cofactor: Zinc

Subunit: Forms oligomers linked by disulfide bonds

Subcellular location: Nucleus. Nucleus, nucleolus. Cell membrane; Single-pass type I membrane protein. Cell projection,

microvillus membrane; Single-pass type I membrane protein. Note=Found on the surface microvilli and in the nucleus,

particularly in nucleolus

2 PDB 3D structures from and Proteopedia for CA9:

2HKF (3D)

3IAI (3D)

Secondary accessions: Q5T4R1

Explore the universe of human proteins at neXtProt for CA9: NX_Q16790

Post-translational modifications:

Asn-346 bears high-mannose type glycan structures¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16790

CA9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001207.2

ENSEMBL proteins:

ENSP00000367608

Reactome Protein details: Q16790
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for CA9 (Carbonic Anhydrase IX/CA9)
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	Novus Biologicals CA9 Proteins Novus Biologicals CA9 Lysates
	Sino Biological Recombinant Protein for CA9
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CA9

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0016021	integral to membrane	IEA	--
GO:0031528	microvillus membrane	IEA	--

CA9 for ontologies About GeneDecksing

CA9 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CA9
	R&D Systems Antibodies for CA9 (Carbonic Anhydrase IX/CA9)
	Cell Signaling Technology (CST) Antibodies for CA9
	OriGene Antibodies (see all 3): CA9 OriGene Custom Antibody Services for CA9
	GenScript Custom Superior Antibodies Services for CA9
	Novus Biologicals CA9 Antibodies
	Abcam antibodies for CA9
	Uscn Antibodies for CA9
	ThermoFisher Antibody for CA9

Assay Products for CA9:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for CA9 (Carbonic Anhydrase IX/CA9) (see all)
	GenScript Custom Assay Services for CA9
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CA9

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CA9 for domains About GeneDecksing

4 InterPro domains/families:

IPR001148 Carbonic_anhydrase_a

IPR018338 Carbonic_anhydrase_a-class_CS

IPR023561 Carbonic_anhydrase_a-class

IPR018429 Carbonic_anhydrase_CA9

Graphical View of Domain Structure for InterPro Entry Q16790

ProtoNet protein and cluster: Q16790

1 Blocks protein family: IPB001148 Carbonic anhydrase

UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790

Similarity: Belongs to the alpha-carbonic anhydrase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790

Function: Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell

proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia

Catalytic activity: H(2)CO(3) = CO(2) + H(2)O

Enzyme regulation: Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA) and Foscarnet

(phosphonoformate trisodium salt)

Biophysicochemical properties: pH dependence: Optimum pH is 6.5;

Induction: By hypoxia

Genatlas biochemistry entry for CA9:

carbonic anhydrase 9,MN/CA antigen expressed in Hela cells and some human carcinomas

Enzyme Number (IUBMB): EC 4.2.1.1¹

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA9
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CA9
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CA9 (see all 7) OriGene shRNA RFP: CA9 OriGene siRNA: CA9
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CA9

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: CA9 (NM_001216)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA9

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CA9
		Search LifeMap BioReagents cell lines for CA9

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA9

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004089	carbonate dehydratase activity	IEA	--
GO:0008270	zinc ion binding	IEA	--

CA9 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for CA9:

Decreased POU5F1-GFP protein e

Increased G1 DNA content

Increased number of mitotic ce

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for CA9: Car9^tm1Lex Car9^tm1Spas
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Car9):

digestive/alimentary

endocrine/exocrine gland

mortality/aging

CA9 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha

	Cellular responses to stress	0.72			Regulation of Hypoxia-inducible Factor (HIF) by Oxygen	0.72
	Cellular response to hypoxia	0.72

Reversible Hydration of Carbon Dioxide

Reversible Hydration of Carbon Dioxide

1.00

Nitrogen metabolism

0.52

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Angiogenesis

Angiogenesis

1.00

Expression of Carbonic Anhydrase IX (CA9)

Expression of Carbonic Anhydrase IX (CA9)

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Cell Signaling Technology (CST) Pathways for CA9

	Translational Control
	Angiogenesis
	Glucose / Energy Metabolism

1 BioSystems Pathway for CA9

HIF-1-alpha transcription factor network

5/7 Reactome Pathways for CA9 (see all 7)

	Cellular response to hypoxia
	Expression of Carbonic Anhydrase IX (CA9)
	Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
	Reversible Hydration of Carbon Dioxide
	Metabolism

1 PharmGKB Pathway for CA9

Celecoxib Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for CA9):

Nitrogen metabolism

CA9 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CA9

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/11 Interacting proteins for CA9 (Q16790³ ENSP00000367608⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CTNNA1	P35221³, ENSP00000304669⁴	I2D: score=2 STRING: ENSP00000304669
CDH1	P12830³, ENSP00000261769⁴	I2D: score=1 STRING: ENSP00000261769
CTNNB1	P35222³, ENSP00000344456⁴	I2D: score=2 STRING: ENSP00000344456
ARNT	ENSP00000351407⁴	STRING: ENSP00000351407
EP300	ENSP00000263253⁴	STRING: ENSP00000263253

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002009	morphogenesis of an epithelium	IEA	--
GO:0006730	one-carbon metabolic process	IEA	--
GO:0015701	bicarbonate transport	TAS	--
GO:0033554	cellular response to stress	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

CA9 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CA9 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CA9 available from Tocris Bioscience About this table

Compound	Action	CAS #
U104	Potent carbonic anhydrase (CA) IX and XII inhibitor	[178606-66-1]

4 HMDB Compounds for CA9 About this table

Compound	Synonyms	CAS #	PubMed Ids
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Carbonic acid	acid of air (see all 24)	463-79-6	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--
Zinc	Zinc (see all 2)	7440-66-6	--

4 DrugBank Compounds for CA9 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Zonisamide	Zonisamida [Spanish] (see all 2)	68291-97-4	target	inhibitor	18537527 17762320 19703035 18782051 17582922
Benzthiazide	--	91-33-8	target	inhibitor	19119014
Hydrochlorothiazide	Dihydrochlorothiazid (see all 10)	58-93-5	target	inhibitor	19119014
Hydroflumethiazide	Dihydroflumethazide (see all 6)	135-09-1	target	inhibitor	19119014

10/33 Novoseek chemical compound relationships for CA9 gene (see all 33) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pimonidazole	88.2	58	19699082 (5), 16618579 (5), 16242253 (4), 12460928 (4) (see all 18)
dichlorphenamide	70.4	2	12643899 (1), 12747790 (1)
vegf	65.8	120	16495697 (9), 12171890 (5), 19619339 (4), 18695901 (4) (see all 46)
ethoxzolamide	65.3	2	12643899 (1), 12747790 (1)
methazolamide	63.6	2	12643899 (1), 12747790 (1)
sulfonamide	62.7	9	17502120 (2), 15012984 (1), 19861127 (1), 12747790 (1) (see all 6)
brinzolamide	59.9	2	12643899 (1), 12747790 (1)
iudr	49.9	7	15671533 (2), 18973979 (1), 16618579 (1)
acetazolamide	48	3	19615903 (1), 12643899 (1), 12747790 (1)
idurd	47.6	15	15671533 (6), 16618579 (2)

Search CenterWatch for drugs/clinical trials and news about CA9 / CAH9

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CA9 gene:

NM_001216.2

Unigene Cluster for CA9:

Carbonic anhydrase IX

Hs.63287 [show with all ESTs]

Unigene Representative Sequence: BC014950

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000378357(uc003zxo.4) ENST00000493245 ENST00000485665

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA9
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CA9
		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CA9 (see all 7) OriGene shRNA RFP: CA9 OriGene siRNA: CA9
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CA9 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CA9 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CA9 (NM_001216)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CA9
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CA9
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CA9
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CA9

Additional cDNA sequence:

AJ010588.1 BC014950.1 EF122496.1 X66839.1

7 DOTS entries:

DT.208212 DT.100745009 DT.97826490 DT.97837714 DT.100751488 DT.121152882 DT.91730964

24/78 AceView cDNA sequences (see all 78):

AI925646 BM052696 CR590646 AL542336 BM052891 BM052647 BM826222 X66839

CR597234 BM052971 AI307631 AL558378 AL554705 CK903817 CR616345 BI964215

AW136118 BG386425 AW449513 CR620502 BI963901 AI791726 NM_001216 BX416224

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CA9 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11
SP1:
SP2:													-
SP3:																			-
SP4:			-

ECgene alternative splicing isoforms for CA9

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CA9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTCCCCTGT

About this image

CA9 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CA9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CA9

SOURCE GeneReport for Unigene cluster: Hs.63287

UniProtKB/Swiss-Prot: CAH9_HUMAN, Q16790

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

SABiosciences Expression via Pathway-Focused PCR Arrays including CA9:

Cancer PathwayFinder in human mouse rat

Signal Transduction PathwayFinder in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Necrosis in human mouse rat

Stress & Toxicity PathwayFinder in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CA9

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA9

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CA9 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CA9¹	carbonic anhydrase IX	55.28(n) 47.87(a)		770004 XM_001233319.2 XP_001233320.2
lizard (Anolis carolinensis)	Reptilia	CA9⁶	--	56(a)	1 ↔ 1	GL343859.1(137096-143876)
zebrafish (Danio rerio)	Actinopterygii	ca9¹	carbonic anhydrase IX	47.32(n) 38.99(a)		566612 XM_689890.4 XP_694982.2
fruit fly (Drosophila melanogaster)	Insecta	CG6074³ CG18672¹	carbonate dehydratase³ CG18672¹	34(a)³ 43.74(n)¹ 37.57(a)¹		97E2³ 50101¹ NM_144019.2¹ NP_652276.2¹
worm (Caenorhabditis elegans)	Secernentea	cah-3⁶ cah-5⁶	Putative carbonic anhydrase 5	28(a) 23(a)	possible ortholog possible ortholog	X(16487406-16489323) X(7019981-7023926)
thale cress (Arabidopsis thaliana)	eudicotyledons	ATACA2⁶ ATACA7⁶ (see all 8)	carbonic anhydrase (see all 8)	25(a) 23(a) (see all 8)	many ↔ many many ↔ many (see all 8)	2(12029997-12032420) 1(2516991-2518546)
rice (Oryza sativa)	Liliopsida	Os11g0153200¹	hypothetical protein	50.72(n) 40.58(a)		4349804 NM_001072308.1 NP_001065776.1

ENSEMBL Gene Tree for CA9 (if available)
TreeFam Gene Tree for CA9 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CA9 gene

CA2² CA12² CA7² CA6² CA3² CA11² CA5B² CA14²

CA5A² CA8² CA4² CA1² CA13² CA10²

5 SIMAP similar genes for CA9 using alignment to 1 protein entry: CAH9_HUMAN:

CA6 CA14 CA12 CA2 CA3

CA9 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146966274^1,2	C,F,	other	35674204(+)	`GGATCT/CACCTG`	2	/P /L	mis¹		1		EU	1215
rs137897809^1,2	C,F,	other	35674208(+)	`CTACCT/CGGAGA`	2	/P	syn¹		1		EU	1219
rs7853785^1,2	C,F,A,H,	--	35637156(+)	`ATCAGG/CAAGAG`	1	--	ds500¹		22		NS EA NA WA	2734
rs35974497^1,2	C,	--	35637193(+)	`TGGCT-/TGGTGTG`	1	--	ds500¹		0	--	--	--	--
rs184901972^1,2		--	35672004(+)	`CCACCA/GCCCTC`	1	--	us2k¹		0	--	--	--	--
rs190742515^1,2		--	35672184(+)	`TACCAA/GAAATA`	1	--	us2k¹		0	--	--	--	--
rs4878626^1,2	C,F,A,H,	--	35672236(+)	`GCTACC/TCAGGA`	1	--	us2k¹		4		NA WA	8
rs148349712^1,2		--	35672260(+)	`GAATCA/GCTTGA`	1	--	us2k¹		0	--	--	--	--
rs76085359^1,2	C,F,	--	35672300(+)	`AGATCG/ACGCCA`	1	--	us2k¹		1		EA	120
rs141496317^1,2		--	35672302(+)	`ATCGCA/GCCACT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CA9 (35673853 - 35681156 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CA9: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CA9

DNA2.0 Custom Variant and Variant Library Synthesis for CA9

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CA9 for disorders           About GeneDecksing

OMIM gene information: 603179    OMIM disorders: --

20/70 diseases for CA9 (see all 70):    About MalaCards

renal cell carcinoma clear cell renal cell carcinoma carcinoma monoclonal gammopathy of undetermined significance

von hippel-lindau disease hypoxia endolymphatic sac tumor renal clear cell carcinoma

sarcomatoid renal cell carcinoma serous cystadenoma adult glioblastoma multiforme soft tissue sarcoma

horseshoe kidney oxyphilic adenoma lymphocytic choriomeningitis papillary renal cell carcinoma

oral squamous cell carcinoma parametritis cystic teratoma cystadenoma

2 diseases from the University of Copenhagen DISEASES database for CA9:

Renal cell carcinoma Carcinoma

10/46 Novoseek disease relationships for CA9 gene (see all 46) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
renal clear cell carcinoma	83.3	31	19539328 (3), 17382701 (3), 15126876 (2), 17947723 (2) (see all 16)
carcinoma renal cell	78.4	38	17382701 (2), 16905977 (2), 16042714 (1), 15717944 (1) (see all 32)
metastatic renal cell carcinoma	70.8	6	20393025 (2), 12941820 (1), 19539328 (1), 16648493 (1)
tumors	66.9	424	16024110 (8), 11522632 (7), 19074859 (6), 16428489 (6) (see all 99)
renal cancer	63	12	15897568 (4), 12576453 (2), 16310354 (1), 18430120 (1) (see all 5)
aggressiveness	57.3	1	15935515 (1)
solid tumor	52.8	6	19679200 (1), 12154057 (1), 16416108 (1), 17724612 (1)
carcinoma	50.8	55	14572156 (3), 18941400 (3), 9395919 (2), 8084592 (2) (see all 30)
cancer	46	69	19365853 (5), 19601749 (3), 19022520 (3), 9770531 (2) (see all 40)
neck cancer	45.7	2	11705854 (2)

Human Genome Epidemiology (HuGE) Navigator: CA9 (6 documents)

Export disorders for CA9 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CA9 gene, integrated from 9 sources (see all 419):
(articles sorted by number of sources associating them with CA9)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of MN, a human tumor-associated protein with a domain homologous to carbonic anhydrase and a putative helix- loop-helix DNA binding segment. (PubMed id 8084592)^{1, 2, 9} Pastorek J.... Kettmann R. (1994)
Molecular cloning and immunogenicity of renal cell carcinoma- associated antigen G250. (PubMed id 10709109)^{1, 2, 9} Grabmaier K.... Oosterwijk E. (2000)
Crystal structure of the catalytic domain of the tumo r-associated human carbonic anhydrase IX. (PubMed id 19805286)^{1, 2} Alterio V....De Simone G. (2009)
Biochemical characterization of CA IX, one of the most active carbonic anhydrase isozymes. (PubMed id 18703501)^{1, 2} Hilvo M....Parkkila S. (2008)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Radiation hybrid mapping of the human MN/CA9 locus to chromosome band 9p12-p13. (PubMed id 9787087)^{1, 3} Nakagawa Y....Yoshikawa K. (1998)
Human MN/CA9 gene, a novel member of the carbonic anhydrase family: structure and exon to protein domain relationships. (PubMed id 8661007)^{1, 3} Opavsky R....Pastorek J. (1996)
Expression of MaTu-MN protein in human tumor cultures and in clinical specimens. (PubMed id 8486430)^{1, 2} Zavada J....Zelnik V. (1993)
A novel quasi-viral agent, MaTu, is a two-component system. (PubMed id 1312272)^{1, 2} Pastorekova S.... Zavada J. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 768	HGNC: 1383	AceView: CA9	Ensembl:ENSG00000107159	euGenes: HUgn768
ECgene: CA9	Kegg: 768	H-InvDB: CA9

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CA9	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CA9	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CA9 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CA9 gene:
Search GeneIP for patents involving CA9

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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carbonic anhydrase IX

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