CA4 - carbonic anhydrase 4 Gene

Also Known as CAIV; Car4; RP17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 762

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	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15563508	GOA

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

Cellular Component GO Annotation	Evidence	Verweise	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

Art. -Nr.	Produktname	Accession	Reinheit
HY-P7720	Carbonic Anhydrase 4 Protein, Human (His)	P22748-1 (A19-K283)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P72862	Carbonic Anhydrase 4 Protein, Human (HEK293, His)	P22748-1/NP_000708.1 (A19-K283)	≥ 95%, as determined by reducing SDS-PAGE.

CA4 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P811162	Carbonic Anhydrase 4 Antibody	WB, ICC/IF	Human, Mouse, Rat

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
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-14797	Ombrabulin	Inhibitor	98.53%	Phase 3
HY-15855	Fosbretabulin tromethamine	Modulator	/	Phase 3

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-17449	Fosbretabulin disodium		99.91%	Yes
HY-18256	Ombrabulin hydrochloride	Inhibitor	99.57%	Yes
HY-RS01770	CA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01911	Car4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CA4	NCBI