CA4 - carbonic anhydrase 4 Gene

Homo sapiens

Also known as CAIV; Car4; RP17

Gene ID: 762 | Gene type: protein coding

About CA4

Cytogenetic location: 17q23.1 Genomic coordinates (GRCh38): 17:60,149,973-60,179,021 (from NCBI)

This gene has 6 transcripts (splice variants), 333 orthologues, 14 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 23.2), fat (RPKM 10.2) and 9 other tissues.

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, 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]

CA4 Products(11)

mRNA	Protein	Name
NM_000717.5	NP_000708.1	carbonic anhydrase 4 preproprotein
NR_137422.2
XM_005257639.4	XP_005257696.1	carbonic anhydrase 4 isoform X1
XM_047436651.1	XP_047292607.1	carbonic anhydrase 4 isoform X1
XM_047436653.1	XP_047292609.1	carbonic anhydrase 4 isoform X2
XM_011525183.3	XP_011523485.1	carbonic anhydrase 4 isoform X3
XM_047436656.1	XP_047292612.1	carbonic anhydrase 4 isoform X2
XM_047436650.1	XP_047292606.1	carbonic anhydrase 4 isoform X1
XM_047436655.1	XP_047292611.1	carbonic anhydrase 4 isoform X2
XM_047436652.1	XP_047292608.1	carbonic anhydrase 4 isoform X1
XM_047436654.1	XP_047292610.1	carbonic anhydrase 4 isoform X2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15563508	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bicarbonate transport	IMP IMP: Inferred from mutant phenotype	15563508	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	17409381	GOA
located in apical plasma membrane	IDA IDA: Inferred from direct assay	17409381	GOA
NOT located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	17409381	GOA
located in brush border membrane	IDA IDA: Inferred from direct assay	17409381	GOA
located in cell surface	IDA IDA: Inferred from direct assay	15563508	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	17409381	GOA
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	17409381	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	15326289	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	17409381	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15563508	GOA
located in rough endoplasmic reticulum	IDA IDA: Inferred from direct assay	17409381	GOA
located in secretory granule membrane	IDA IDA: Inferred from direct assay	17409381	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	17409381	GOA
located in transport vesicle membrane	IDA IDA: Inferred from direct assay	17409381	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CA4 Protein Structure

Carb_anhydrase

0
100
200
312 a.a.

Protein Preferred Names

Protein Names

carbonic anhydrase 4

CA-IV	carbonate dehydratase IV
carbonic anhydrase IV	carbonic dehydratase IV

Recombinant CA4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7720	Carbonic Anhydrase 4 Protein, Human (His)	P22748 (A19-K283)	≥95%
HY-P72862	Carbonic Anhydrase 4 Protein, Human (HEK293, His)	P22748 (A19-K283)	≥95%

Related Diseases

Diseases

Alias

Mild Cognitive Impairment

Pick Disease Of Brain

Pick Disease	Pick Disease Of The Brain
Lobar Atrophy Of Brain	Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions
Pick'S Disease	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

Dissociative Amnesia

Psychogenic Amnesia	Amnesia, Dissociative
Amnesia, Psychogenic	Amnesia Neurosis
Hysterical Fugue	Dissociative Fugue

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Focal Epilepsy

Partial Epilepsy	Epilepsies, Partial
Localisation-Related Epilepsy

Intraocular Pressure Quantitative Trait Locus

Glaucoma	IOPQTL
Glaucoma, Susceptibility To	Postinfectious Glaucoma
Glaucoma With Ocular Inflammation	Glaucoma Secondary To Eye Inflammation
Traumatic Glaucoma	Glaucoma With Concussion Of Globe
Glaucoma Due To Ocular Trauma	Glaucoma Associated With Ocular Trauma
Glaucoma Secondary To Drugs

Liver Rhabdomyosarcoma

Rhabdomyosarcoma Of Liver

Retinitis Pigmentosa 17

RP17	Retinitis Pigmentosa-17
Retinitis Pigmentosa, Type 17

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Atypical Autism

Pdd

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Multiple Personality Disorder

Dissociative Identity Disorder

Multiple Personality

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis	Marble Brain Disease
OPTB3	Guibaud-Vainsel Syndrome
Carbonic Anhydrase Ii Deficiency	Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
Autosomal Recessive Osteopetrosis 3	Carbonic Anhydrase 2 Deficiency
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis	Osteopetrosis Autosomal Recessive 3
Autosomal Recessive Osteopetrosis Type 3	Guibaud Vainsel Syndrome
Mixed Rta	Mixed Renal Tubular Acidosis
Renal Tubular Acidosis Type 3	Carbonic Anhydrase Ii Deficiency Syndrome
Carbonic Anhydrase Ii Variant	Osteopetrosis, Autosomal Recessive, Type 3
Carbonic Anhydrase 2

Dissociative Disorder

Dissociative Disorders	Dissociative Disease
Dissociative Reaction

Transient Global Amnesia

Amnesia, Transient Global

Anterograde Amnesia

Amnesia, Anterograde

Retrograde Amnesia

Amnesia, Retrograde

Major Depressive Disorder

Seasonal Affective Disorder	Unipolar Depression
Depression	MDD
Depressive Disorder	Unipolar Depression, Susceptibility To
Major Depressive Disorder 1	Major Depressive Disorder, Response To Citalopram Therapy In
Major Depressive Disorder 2	Winter Depression
Single Major Depressive Episode	Sad
Clinical Depression	Major Depression
Depressive Syndrome	Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment
Seasonal Affective Disorder, Susceptibility To	Recurrent Major Depression
Affective Disorder, Seasonal	Depression In A Seasonal Pattern
Depression	Seasonal
Major Depressive Disorder With A Seasonal Pattern	Seasonal Depression
Seasonal Mood Disorder	Mental Depression
Recurrent Major Depressive Episodes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Phase
HY-17449	Fosbretabulin disodium		99.47%	Phase 3
HY-18256	Ombrabulin hydrochloride	Inhibitor	99.57%	Phase 3
HY-14797	Ombrabulin	Inhibitor	98.00%	Phase 3

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15855	Fosbretabulin tromethamine		/	Unkown
HY-RS01770	CA4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CA4	RGD	RGD:2242
Canis familiaris	CA4	VGNC	VGNC:38612
Macaca mulatta	CA4	VGNC	VGNC:84877
Felis catus	CA4	VGNC	VGNC:60275
Bos taurus	CA4	VGNC	VGNC:26654
Mus musculus	CA4	MGD	MGI:1096574
Macaca fascicularis	CA4	NCBI	NCBI:102129007
Others	CA4	NCBI

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