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Aliases for CA4 Gene

Aliases for CA4 Gene

  • Carbonic Anhydrase 4 2 3 3 5
  • Carbonic Anhydrase IV 2 3 4
  • Carbonate Dehydratase IV 3 4
  • CA-IV 3 4
  • Retinitis Pigmentosa 17 (Autosomal Dominant) 2
  • Carbonic Dehydratase IV 3
  • EC 4.2.1.1 4
  • CAIV 3
  • Car4 3
  • RP17 3

External Ids for CA4 Gene

Previous HGNC Symbols for CA4 Gene

  • RP17

Previous GeneCards Identifiers for CA4 Gene

  • GC17M057703
  • GC17P060677
  • GC17P058569
  • GC17P058701
  • GC17P055582
  • GC17P058227
  • GC17P053598

Summaries for CA4 Gene

Entrez Gene Summary for CA4 Gene

  • 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]

GeneCards Summary for CA4 Gene

CA4 (Carbonic Anhydrase 4) is a Protein Coding gene. Diseases associated with CA4 include Retinitis Pigmentosa 17 and Retinitis Pigmentosa. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen and Metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA14.

UniProtKB/Swiss-Prot for CA4 Gene

  • 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.

Tocris Summary for CA4 Gene

  • Carbonic anhydrases (EC 4.2.1.1) 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.

Gene Wiki entry for CA4 Gene

Additional gene information for CA4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA4 Gene

Genomics for CA4 Gene

GeneHancer (GH) Regulatory Elements for CA4 Gene

Promoters and enhancers for CA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J060149 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl 664.6 +0.6 649 2.3 CTCF ZNF202 SP3 MAX ZNF148 CBX8 POLR2A GLIS1 ZBTB26 WT1 CA4 VMP1 USP32 TUBD1 PPM1D HEATR6 RPS6KB1 SMG8 NDUFB8P2 RPL32P32
GH17J060387 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 +241.2 241236 6.5 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 GLIS1 USP32 C17orf64 GC17P060389 NDUFB8P2 PPM1D TUBD1 HEATR6 RPL32P32 RPS6KB1 CA4
GH17J060161 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.8 +12.7 12670 2.5 HDGF PKNOX1 ARNT ZNF493 ZSCAN4 KLF17 SIN3A BMI1 RAD21 GLIS2 GC17M060146 VMP1 USP32 HEATR6 CA4 LOC100996660 ENSG00000275860 RPL32P32 PPM1D
GH17J059781 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 6.3 -362.3 -362262 11.9 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 RPS6KB1 TUBD1 HEATR6 PPM1D RNFT1-DT SKA2 LOC100996660 MIR21 RNU6-450P TRIM37
GH17J059751 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.4 -388.5 -388452 20.4 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A YBX1 FEZF1 RPS6KB1 TUBD1 NDUFB8P2 PPM1D RNFT1-DT ENSG00000275860 ENSG00000224738 MIR21 RNU6-450P HEATR6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CA4 gene promoter:
  • AREB6
  • GATA-2
  • HNF-1A
  • HNF-1
  • GATA-3
  • LUN-1
  • FOXO4
  • Nkx2-5
  • POU3F1
  • PPAR-alpha

Genomic Locations for CA4 Gene

Genomic Locations for CA4 Gene
chr17:60,149,936-60,170,899
(GRCh38/hg38)
Size:
20,964 bases
Orientation:
Plus strand
chr17:58,227,297-58,248,260
(GRCh37/hg19)
Size:
20,964 bases
Orientation:
Plus strand

Genomic View for CA4 Gene

Genes around CA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA4 Gene

Proteins for CA4 Gene

  • Protein details for CA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22748-CAH4_HUMAN
    Recommended name:
    Carbonic anhydrase 4
    Protein Accession:
    P22748
    Secondary Accessions:
    • B4DQA4
    • Q6FHI7

    Protein attributes for CA4 Gene

    Size:
    312 amino acids
    Molecular mass:
    35032 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with SLC4A4.

    Three dimensional structures from OCA and Proteopedia for CA4 Gene

    Alternative splice isoforms for CA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CA4 Gene

Post-translational modifications for CA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CA4 Gene

Domains & Families for CA4 Gene

Gene Families for CA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CA4 Gene

Graphical View of Domain Structure for InterPro Entry

P22748

UniProtKB/Swiss-Prot:

CAH4_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
Family:
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA4: view

Function for CA4 Gene

Molecular function for CA4 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
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).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=21.5 mM for CO(2) {ECO:0000269 PubMed:18618712};
GENATLAS Biochemistry:
carbonic anhydrase IV,cell surface membrane,expressed in lung capillaries and kidney

Enzyme Numbers (IUBMB) for CA4 Gene

Phenotypes From GWAS Catalog for CA4 Gene

Gene Ontology (GO) - Molecular Function for CA4 Gene

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 --
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CA4: view
genes like me logo Genes that share phenotypes with CA4: view

Human Phenotype Ontology for CA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CA4 Gene

MGI Knock Outs for CA4:
  • Car4 Car4<tm1b(EUCOMM)Wtsi>
  • Car4 Car4<tm1Sly>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA4

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CA4 Gene

Localization for CA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA4 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CA4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0005886 plasma membrane TAS,IEA --
genes like me logo Genes that share ontologies with CA4: view

Pathways & Interactions for CA4 Gene

genes like me logo Genes that share pathways with CA4: view

Gene Ontology (GO) - Biological Process for CA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
GO:0015701 bicarbonate transport TAS,IMP --
genes like me logo Genes that share ontologies with CA4: view

No data available for SIGNOR curated interactions for CA4 Gene

Drugs & Compounds for CA4 Gene

(26) Drugs for CA4 Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dichlorphenamide Approved, Investigational Pharma Target, inhibitor 2
Methazolamide Approved Pharma inhibitor, Target Carbonic anhydrase inhibitor 8
Topiramate Approved Pharma antagonist, Target, inhibitor GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 257
Acetazolamide Approved, Vet_approved Pharma inhibitor, Target 86
Brinzolamide Approved Pharma Target, inhibitor CA II inhibitor 63

(12) Additional Compounds for CA4 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
463-79-6
Hydrogen carbonate
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
S4
1330061-67-0

(2) Tocris Compounds for CA4 Gene

Compound Action Cas Number
S4 High affinity and selective CA IX and CA XII inhibitor 1330061-67-0
U 104 Potent carbonic anhydrase (CA) IX and XII inhibitor 178606-66-1
genes like me logo Genes that share compounds with CA4: view

Drug Products

Transcripts for CA4 Gene

Unigene Clusters for CA4 Gene

Carbonic anhydrase IV:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA4

Alternative Splicing Database (ASD) splice patterns (SP) for CA4 Gene

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

Relevant External Links for CA4 Gene

GeneLoc Exon Structure for
CA4
ECgene alternative splicing isoforms for
CA4

Expression for CA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CA4 Gene

This gene is overexpressed in Whole Blood (x10.4), Colon - Transverse (x6.4), Brain - Cerebellar Hemisphere (x4.5), and Brain - Cerebellum (x4.5).

Protein differential expression in normal tissues from HIPED for CA4 Gene

This gene is overexpressed in Lung (18.0), Brain (8.0), Urine (7.9), Seminal vesicle (7.9), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CA4 Gene



NURSA nuclear receptor signaling pathways regulating expression of CA4 Gene:

CA4

SOURCE GeneReport for Unigene cluster for CA4 Gene:

Hs.89485

mRNA Expression by UniProt/SwissProt for CA4 Gene:

P22748-CAH4_HUMAN
Tissue specificity: Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels.

Evidence on tissue expression from TISSUES for CA4 Gene

  • Nervous system(4.7)
  • Lung(4.5)
  • Kidney(2.5)
  • Heart(2.3)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CA4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CA4: view

No data available for Protein tissue co-expression partners for CA4 Gene

Orthologs for CA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CA4 34 33
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CA4 34 33
  • 79.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CA4 34 33
  • 79.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Car4 33
  • 70.75 (n)
mouse
(Mus musculus)
Mammalia Car4 16 34 33
  • 69.31 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 48 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves CA4 34 33
  • 51.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CA4 34
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca4 33
  • 48.08 (n)
zebrafish
(Danio rerio)
Actinopterygii ca4b 34 33
  • 51.71 (n)
OneToMany
ca4a 34
  • 39 (a)
OneToMany
ca4c 34
  • 34 (a)
OneToMany
CA4 (8 of 8) 34
  • 33 (a)
OneToMany
ca15a 34
  • 31 (a)
OneToMany
ca15b 34
  • 31 (a)
OneToMany
CA4 (7 of 8) 34
  • 31 (a)
OneToMany
ca15c 34
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH2 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cah-3 34
  • 31 (a)
ManyToMany
cah-5 34
  • 29 (a)
ManyToMany
Species where no ortholog for CA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CA4 Gene

ENSEMBL:
Gene Tree for CA4 (if available)
TreeFam:
Gene Tree for CA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CA4: view image

Paralogs for CA4 Gene

Paralogs for CA4 Gene

(6) SIMAP similar genes for CA4 Gene using alignment to 5 proteins:

  • CAH4_HUMAN
  • B4DQA4_HUMAN
  • K7EIH9_HUMAN
  • K7EKY5_HUMAN
  • K7ENI8_HUMAN
genes like me logo Genes that share paralogs with CA4: view

Variants for CA4 Gene

Sequence variations from dbSNP and Humsavar for CA4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs104894559 pathogenic, Retinitis pigmentosa 17, Retinitis Pigmentosa, Dominant, Retinitis pigmentosa 17 (RP17) [MIM:600852] 60,150,074(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs117704637 not-provided, benign, likely-benign, not provided, not specified, Retinitis Pigmentosa, Dominant 60,158,402(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121434551 pathogenic, Retinitis pigmentosa 17, Retinitis pigmentosa 17 (RP17) [MIM:600852] 60,158,357(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121434552 pathogenic, Retinitis pigmentosa 17, Retinitis pigmentosa 17 (RP17) [MIM:600852] 60,156,653(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142961963 uncertain-significance, Retinitis Pigmentosa, Dominant 60,159,292(+) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CA4 Gene

Variant ID Type Subtype PubMed ID
esv3365847 CNV insertion 20981092
nsv519766 CNV loss 19592680
nsv527094 CNV loss 19592680
nsv528050 CNV gain 19592680
nsv7295 OTHER inversion 18451855
nsv833504 CNV gain 17160897
nsv9579 CNV gain+loss 18304495

Variation tolerance for CA4 Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CA4 Gene

Human Gene Mutation Database (HGMD)
CA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA4 Gene

Disorders for CA4 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CA4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 17
  • rp17
retinitis pigmentosa
  • retinitis pigmentosa 1
herpangina
  • vesicular pharyngitis
liver rhabdomyosarcoma
  • rhabdomyosarcoma of liver
liver sarcoma
  • hepatic sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search CA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAH4_HUMAN
  • Retinitis pigmentosa 17 (RP17) [MIM:600852]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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. {ECO:0000269 PubMed:15563508, ECO:0000269 PubMed:17652713, ECO:0000269 PubMed:20450258}. Note=The disease is caused by mutations affecting the gene represented in this entry. 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.

Additional Disease Information for CA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CA4: view

No data available for Genatlas for CA4 Gene

Publications for CA4 Gene

  1. Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q. (PMID: 8325641) Okuyama T … Sly WS (Genomics 1993) 2 3 4 22 58
  2. Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients. (PMID: 20450258) Tian Y … Zhu X (Current eye research 2010) 3 4 22 58
  3. Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. (PMID: 17652713) Alvarez BV … Casey JR (Investigative ophthalmology & visual science 2007) 3 4 22 58
  4. Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. (PMID: 15563508) Yang Z … Zhang K (Human molecular genetics 2005) 3 4 22 58
  5. Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. (PMID: 8942978) Stams T … Christianson DW (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 22 58

Products for CA4 Gene

Sources for CA4 Gene

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