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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CA4 Gene

protein-coding GIFtS: 67
GCID: GC17P058227

carbonic anhydrase IV

(Previous name: retinitis pigmentosa 17 (autosomal dominant) )
(Previous symbol: RP17)

Explore 22 diseases affiliated with
CA4 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 IV¹ ² ³		CA-IV² ³
RP17¹ ² ⁵		Retinitis Pigmentosa 17 (Autosomal Dominant)¹
CAIV¹ ²		Carbonic Anhydrase 4²
Car4¹ ²		Carbonic Dehydratase IV²
Carbonate Dehydratase IV² ³		EC 4.2.1.1³

External Ids:	HGNC: 1375¹	Entrez Gene: 762²	Ensembl: ENSG00000167434⁷	OMIM: 114760⁵	UniProtKB: P22748³

Export aliases for CA4 gene to outside databases

Previous GC identifers: GC17M057703 GC17P060677 GC17P058569 GC17P058701 GC17P055582 GC17P053598

(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 CA4:

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. This gene encodes a

glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain

other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in

inherited renal abnormalities of bicarbonate transport. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748

Function: Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4

that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid

release in the choriocapillaris in the choroid

summary for CA4:

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 CA4 (Carbonic anhydrase 4)

(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_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CA4 gene promoter:
GATA-3 POU3F1 Nkx2-5 LUN-1 HNF-1A GATA-2 PPAR-alpha AREB6 HNF-1 FOXO4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CA4 promoter sequence

Search SABiosciences Chromatin IP Primers for CA4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CA4

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

Entrez Gene cytogenetic band: 17q23 Ensembl cytogenetic band: 17q23.1 HGNC cytogenetic band: 17q23.1

CA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CA4 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P058227: view genomic region (about GC identifiers)

Start:	58,227,297 bp from pter	End:	58,248,260 bp from pter
Size:	20,964 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: CAH4_HUMAN, P22748 (See protein sequence)

Recommended Name: Carbonic anhydrase 4 precursor

Size: 312 amino acids; 35032 Da

Cofactor: Zinc

Subunit: Interacts with SLC4A4

Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor

4 PDB 3D structures from and Proteopedia for CA4:

1ZNC (3D)

3F7B (3D)

3F7U (3D)

3FW3 (3D)

Explore the universe of human proteins at neXtProt for CA4: NX_P22748

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P22748

CA4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000708.1

ENSEMBL proteins:

ENSP00000300900 ENSP00000466964 ENSP00000467465 ENSP00000465837 ENSP00000464757

Reactome Protein details: P22748
Human Recombinant Protein Products:

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	Novus Biologicals CA4 Proteins Novus Biologicals CA4 Lysates
	Sino Biological Recombinant Protein for CA4
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CA4

Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005791	rough endoplasmic reticulum	IDA	17409381
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	17409381
GO:0005794	Golgi apparatus	IDA	17409381
GO:0005802	trans-Golgi network	IDA	17409381

CA4 for ontologies About GeneDecksing

CA4 Antibody Products:

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	Abcam antibodies for CA4
	Uscn Antibodies for CA4
	ThermoFisher Antibodies for CA4

Assay Products for CA4:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CA4
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CA4

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

CA4 for domains About GeneDecksing

4 InterPro domains/families:

IPR018343 Carbonic_anhydrase_CA4

IPR001148 Carbonic_anhydrase_a

IPR018338 Carbonic_anhydrase_a-class_CS

IPR023561 Carbonic_anhydrase_a-class

Graphical View of Domain Structure for InterPro Entry P22748

ProtoNet protein and cluster: P22748

1 Blocks protein family: IPB001148 Carbonic anhydrase

UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748

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: CAH4_HUMAN, P22748

Function: Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4

that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid

release in the choriocapillaris in the choroid

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

Enzyme regulation: Activated by histamine, L-adrenaline, D-phenylalanine, L- and D-histidine. Inhibited by coumarins,

saccharin, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt)

Biophysicochemical properties: Kinetic parameters: KM=21.5 mM for CO(2);

Genatlas biochemistry entry for CA4:

carbonic anhydrase IV,cell surface membrane,expressed in lung capillaries and kidney

Enzyme Number (IUBMB): EC 4.2.1.1¹

miRNA Products:		OriGene 3'-UTR Clone: CA4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA4
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate CA4:
		hsa-miR-515-5p hsa-miR-519e*
		SwitchGear 3'UTR luciferase reporter plasmid: CA4 3' UTR sequence

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 CA4 (see all 7) OriGene shRNA RFP: CA4 OriGene siRNA: CA4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CA4

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CA4

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: CA4 (NM_000350)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CA4

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CA4
		Search LifeMap BioReagents cell lines for CA4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA4

Gene Ontology (GO): 3 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	TAS	--
GO:0005515	protein binding	IPI	15563508
GO:0008270	zinc ion binding	IEA	--

CA4 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CA4:

Decreased nuclei size in G2M

Animal Models:
Mouse knock-out Car4^tm1Sly for CA4
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Car4):

growth/size

homeostasis/metabolism

mortality/aging

reproductive system

CA4 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 About this table

See pathways by source

Super-pathway

contained gene-specific pathways

O2/CO2 exchange in erythrocytes

	O2/CO2 exchange in erythrocytes	1.00			Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes	1.00
	Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes	1.00

Reversible Hydration of Carbon Dioxide

Reversible Hydration of Carbon Dioxide

1.00

Nitrogen metabolism

0.52

Proximal tubule bicarbonate reclamation

Proximal tubule bicarbonate reclamation

1.00

Metabolism

Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Reactome Pathways for CA4

	Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
	Reversible Hydration of Carbon Dioxide
	Metabolism
	Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes
	O2/CO2 exchange in erythrocytes

2 Kegg Pathways (Kegg details for CA4):

	Nitrogen metabolism
	Proximal tubule bicarbonate reclamation

CA4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CA4

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

5/6 Interacting proteins for CA4 (P22748³ ENSP00000300900⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC4A1	P02730³, ENSP00000262418⁴	I2D: score=3 STRING: ENSP00000262418
SLC4A3	P48751³, ENSP00000273063⁴	I2D: score=2 STRING: ENSP00000273063
SLC4A4	ENSP00000393557⁴	STRING: ENSP00000393557
PIH1D1	ENSP00000262265⁴	STRING: ENSP00000262265
PRDX2	ENSP00000301522⁴	STRING: ENSP00000301522

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006730	one-carbon metabolic process	IEA	--
GO:0015701	bicarbonate transport	TAS	--
GO:0042493	response to drug	IEA	--
GO:0044281	small molecule metabolic process	TAS	--
GO:0048513	organ development	IEA	--

CA4 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

CA4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CA4 available from Tocris Bioscience About this table

Compound	Action	CAS #
Topiramate	Inhibits carbonic anhydrase (CA) II and IV	[97240-79-4]

8 HMDB Compounds for CA4 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	--
Hydrochlorothiazide	3,4-Dihydrochlorothiazide (see all 89)	58-93-5	--
Hydrogen carbonate	Bicarbonate (see all 19)	71-52-3	--
Sodium	Sodium (see all 2)	7440-23-5	--
Topiramate	Epitomax (see all 5)	97240-79-4	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--
Zinc	Zinc (see all 2)	7440-66-6	--

10/16 DrugBank Compounds for CA4 (see all 16) 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
Topiramate	Tipiramate [French] (see all 6)	97240-79-4	target	inhibitor	14684331 10768298 14971907 11784136
Hydroflumethiazide	Dihydroflumethazide (see all 6)	135-09-1	target	inhibitor	17139284 19119014 17016423
Trichlormethiazide	--	133-67-5	target	inhibitor	17139284 19119014 17016423
Acetazolamide	Acetamidothiadiazolesulfonamide (see all 7)	59-66-5	target	inhibitor	18336310 20605094
Bendroflumethiazide	Bendrofluazide (see all 9)	73-48-3	target	inhibitor	17139284 17016423
Benzthiazide	--	91-33-8	target	inhibitor	17139284 17016423
Chlorothiazide	Chlorothiazid (see all 3)	58-94-6	target	inhibitor	10954127 10713865
Cyclothiazide	Ciclotiazida [INN-Spanish] (see all 3)	2259-96-3	target	inhibitor	17139284 17016423
Hydrochlorothiazide	Dihydrochlorothiazid (see all 10)	58-93-5	target	inhibitor	19119014 10713865

10/12 Novoseek chemical compound relationships for CA4 gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
benzolamide	73.5	1	10995069 (1)
bicarbonate	67.6	25	9054574 (3), 10420360 (2), 17652713 (2), 12234015 (2) (see all 9)
sulfonamide	60.8	1	9054574 (1)
acetazolamide	58.2	4	10768298 (1), 8056514 (1), 10995069 (1)
halide	41.8	1	8037456 (1)
zinc	35.1	2	9056493 (1), 17652713 (1)
sodium dodecylsulfate	29.6	4	9140058 (2)
fitc	28.8	1	9632745 (1)
sodium bicarbonate	26.2	1	17652713 (1)
chloride	24.1	1	9054574 (1)

Search CenterWatch for drugs/clinical trials and news about CA4 / CAH4

(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 CA4 gene:

NM_000717.3

Unigene Cluster for CA4:

Carbonic anhydrase IV

Hs.89485 [show with all ESTs]

Unigene Representative Sequence: BC057792

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

ENST00000300900(uc002iym.4 uc010wou.2) ENST00000585705 ENST00000591725

ENST00000586876 ENST00000590203 ENST00000587265

miRNA Products:		OriGene 3'-UTR Clone: CA4 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CA4
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate CA4:
		hsa-miR-515-5p hsa-miR-519e*
		SwitchGear 3'UTR luciferase reporter plasmid: CA4 3' UTR sequence

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 CA4 (see all 7) OriGene shRNA RFP: CA4 OriGene siRNA: CA4
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CA4 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CA4 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CA4 (NM_000350)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CA4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CA4

Additional cDNA sequence:

AK289715.1 AK298710.1 BC057792.1 BC069649.1 BC074768.2 CR541766.1 M83670.1

4 DOTS entries:

DT.441458 DT.97837300 DT.441459 DT.120902719

24/44 AceView cDNA sequences (see all 44):

BC069649 BC074768 AU076464 CR541766 CB155206 BM726880 BI819270 NM_000717

AW025419 CD675699 BM784714 BI819658 BC057792 AU103018 BQ017110 AA010297

BE677409 AI990988 CA440015 BE645981 CD110229 AU098704 BQ574378 BE856017

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CA4 About this scheme

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

ECgene alternative splicing isoforms for CA4

(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

CA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTAAAATAT

About this image

CA4 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Kidney

Renal Vesicle

Kidney

S-shaped Body

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

N2/LSB induced-cells (Generation of midbra...)

Epiblast-like cells (Reconstitution of mo...)

Primordial germ cell-like cells (Reconstitution of mo...)

Extraembryonic endoderm-like cells (Generation of extrae...)

See CA4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CA4

SOURCE GeneReport for Unigene cluster: Hs.89485

UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748

Tissue specificity: Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in

the retinal epithelium at detectable levels

SABiosciences Expression via Pathway-Focused PCR Array including CA4:

Lung Cancer in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CA4 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CA4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CA4

(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 CA4 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	CA4¹	carbonic anhydrase IV	50.95(n) 42.14(a)		417647 XM_415893.3 XP_415893.1
lizard (Anolis carolinensis)	Reptilia	CA4⁶	--	41(a)	1 ↔ 1	GL343393.1(378164-386938)
zebrafish (Danio rerio)	Actinopterygii	ca4b¹	carbonic anhydrase IV b	50.92(n) 42.12(a)		553246 NM_001166211.1 NP_001159683.1
honey bee (Apis mellifera)	Insecta	--	--	28(a)	possible ortholog	GroupUn.4108(1282-1968)
worm (Caenorhabditis elegans)	Secernentea	cah-3⁶ cah-5⁶	Putative carbonic anhydrase 5	27(a) 21(a)	possible ortholog possible ortholog	X(16487406-16489323) X(7019981-7023926)
thale cress (Arabidopsis thaliana)	eudicotyledons	ATACA2⁶ ACA1⁶ (see all 8)	carbonic anhydrase (see all 8)	24(a) 22(a) (see all 8)	many ↔ many many ↔ many (see all 8)	2(12029997-12032420) 3(19538690-19541284)
rice (Oryza sativa)	Liliopsida	-- -- (see all 10)	bifunctional monodehydroascorbate reductase and ca... bifunctional monodehydroascorbate reductase and ca... (see all 10)	25(a) 25(a) (see all 10)	many ↔ many many ↔ many (see all 10)	11(2485289-2485837) 2(19630403-19632986)

ENSEMBL Gene Tree for CA4 (if available)
TreeFam Gene Tree for CA4 (if available)

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

Paralogs for CA4 gene

CA2² CA12² CA7² CA6² CA3² CA11² CA5B² CA14²

CA5A² CA8² CA1² CA13² CA9² CA10²

6 SIMAP similar genes for CA4 using alignment to 6 protein entries: CAH4_HUMAN (see all proteins):

PTPRG CA7 CA12 CA14 CA2 CA3

CA4 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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894559^1,2	C	pathogenic	62954297(+)	`CGGCGC/TGGCCA`	2	R W	mis¹		0	--	--	--	--
rs76995634^1,2	C,F,	untested	62945954(+)	`GTTCCG/AGGAGC`	2	/Q /R	mis¹		2		WA NA	4662
rs117704637^1,2	C,F,	untested	62945970(+)	`AGGTCG/ATCTGG`	2	/I /V	mis¹		3		NA EU	5975
rs75849127^1,2		--	53596253(+)	`GCTCTA/TACGAC`	1	--	us2k¹		2		CSA WA	120
rs6503946^1,2	C,F,A,H,	--	53596525(+)	`AGAGTG/ATATAG`	1	--	us2k¹		8		NS EA NA WA	674
rs59848689^1,2	C,F,	--	53596918(+)	`TGGTGT/CTGACA`	1	--	us2k¹		1		EA	120
rs71373836^1,2	C,F,	--	53597027(+)	`NNNNGG/AAGTCA`	1	--	us2k¹		3		NA	124
rs74628572^1,2		--	53597179(+)	`AAAAGC/GGGGCT`	1	--	us2k¹		0	--	--	--	--
rs345192^1,2	C,F,A,H,	--	53597197(+)	`GATGGA/GTTGAT`	1	--	us2k¹ tfbs³		18		EA NA NS WA CSA	968
rs77599030^1,2	F,	--	53597252(+)	`CACCCC/GAGCCT`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for CA4 (58227297 - 58248260 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CA4
1 Inversion: 37196
Human Gene Mutation Database (HGMD): CA4

SABiosciences Cancer Mutation PCR Assays

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(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

CA4 for disorders           About GeneDecksing

OMIM gene information: 114760
OMIM disorders: 600852
UniProtKB/Swiss-Prot: CAH4_HUMAN, P22748

Defects in CA4 are the cause of retinitis pigmentosa type 17 (RP17) [MIM:600852]. RP leads to degeneration of

retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As

their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP17

inheritance is autosomal dominant. Note=Defective acid overload removal from retina and retinal epithelium, due to

mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely

cause underlying the RP17 phenotype

20/22 diseases for CA4 (see all 22): About MalaCards

retinitis pigmentosa 17 retinitis pigmentosa hypoxia retinitis

renal tubular acidosis ocular hypotension herpangina toxic encephalopathy

cystic fibrosis glaucoma renal cell carcinoma autoimmune pancreatitis

fibrosis brain disease retinal disease choroiditis

pancreatitis dementia blindness influenza

6 diseases from the University of Copenhagen DISEASES database for CA4:

Alzheimer's disease Herpangina Vascular disease Influenza

Schizophrenia Retinitis pigmentosa

4 Novoseek disease relationships for CA4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinitis pigmentosa	71.9	12	19211803 (2), 15563508 (1), 15090652 (1), 18067080 (1) (see all 6)
glaucoma	37.9	3	12676895 (1), 15563508 (1), 9541386 (1)
cystic fibrosis	14.2	2	15956032 (1)
pancreatitis	9.38	2	10415846 (1), 15647194 (1)

Human Genome Epidemiology (HuGE) Navigator: CA4 (3 documents)

Export disorders for CA4 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 CA4 gene, integrated from 9 sources (see all 109):
(articles sorted by number of sources associating them with CA4)

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

Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q. (PubMed id 8325641)^{1, 2, 3, 9} Okuyama T.... Sly W.S. (1993)
Carbonic anhydrase IV: role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity. (PubMed id 7625839)^{1, 2, 9} Okuyama T.... Sly W.S. (1995)
Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes. (PubMed id 1311094)^{1, 2, 9} Okuyama T.... Sly W.S. (1992)
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. (PubMed id 15563508)^{1, 2, 9} Yang Z.... Zhang K. (2005)
Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. (PubMed id 8942978)^{1, 2, 9} Stams T....Christianson D.W. (1996)
Carbonic anhydrase IV: purification of a secretory form of the recombinant human enzyme and identification of the positions and importance of its disulfide bonds. (PubMed id 8809084)^{1, 2, 9} Waheed A.... Sly W.S. (1996)
Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney. (PubMed id 2111324)^{1, 2, 9} Zhu X.L. and Sly W.S. (1990)
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)
Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter. (PubMed id 14567693)^{1, 9} Alvarez B.V.... Casey J.R. (2003)
Carbonic anhydrase IV expression in rat and human gastrointestinal tract regional, cellular, and subcellular localization. (PubMed id 8675662)^{1, 9} Fleming R.E....Sly W.S. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 762	HGNC: 1375	AceView: CA4	Ensembl:ENSG00000167434	euGenes: HUgn762
ECgene: CA4	Kegg: 762	H-InvDB: CA4

(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 CA4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CA4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CA4 gene:
Search GeneIP for patents involving CA4

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

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