CA2 carbonic anhydrase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA2provided by HGNC
Official Full Name: carbonic anhydrase 2provided by HGNC
Primary source: HGNC:HGNC:1373
See related: Ensembl:ENSG00000104267 MIM:611492; AllianceGenome:HGNC:1373
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282
Summary: The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Expression: Biased expression in stomach (RPKM 493.8), colon (RPKM 349.1) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (85464007..85481493)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (85902727..85920191)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (86376236..86393722)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[1]H, [15]N and[13]C resonance assignments of S2A mutant of human carbonic anhydrase II.
Title: (1)H, (15)N and(13)C resonance assignments of S2A mutant of human carbonic anhydrase II.
XFEL structure of carbonic anhydrase II: a comparative study of XFEL, NMR, X-ray and neutron structures.
Title: XFEL structure of carbonic anhydrase II: a comparative study of XFEL, NMR, X-ray and neutron structures.
Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures for the Early Detection of Colorectal Cancer: A Comprehensive Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms.
Title: Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures for the Early Detection of Colorectal Cancer: A Comprehensive Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms.
Carbonic anhydrase II deficiency.
Title: Carbonic anhydrase II deficiency.
Carbon Dioxide Sensing by Immune Cells Occurs through Carbonic Anhydrase 2-Dependent Changes in Intracellular pH.
Title: Carbon Dioxide Sensing by Immune Cells Occurs through Carbonic Anhydrase 2-Dependent Changes in Intracellular pH.
Carbonic anhydrase 2 and 3 as risk biomarkers for dilated cardiomyopathy associated heart failure.
Title: Carbonic anhydrase 2 and 3 as risk biomarkers for dilated cardiomyopathy associated heart failure.
Carbonic Anhydrases II and IX in Non-ampullary Duodenal Adenomas and Adenocarcinoma.
Title: Carbonic Anhydrases II and IX in Non-ampullary Duodenal Adenomas and Adenocarcinoma.
A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.
Title: A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.
Quantitative Secretome Analysis Reveals Clinical Values of Carbonic Anhydrase II in Hepatocellular Carcinoma.
Title: Quantitative Secretome Analysis Reveals Clinical Values of Carbonic Anhydrase II in Hepatocellular Carcinoma.
Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.
Title: Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (128)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteopetrosis with renal tubular acidosis MedGen: C0345407 OMIM: 259730 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of carbonic anhydrase II (CA2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11468 (e-PCR)
- UniSTS:23717

G44354 (e-PCR)
- UniSTS:95141

D8S1418E (e-PCR)
- UniSTS:151206

G60153 (e-PCR)
- UniSTS:137408

D8S1912 (e-PCR)
- UniSTS:19667

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arylesterase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbonate dehydratase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cyanamide hydratase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in angiotensin-activated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in carbon dioxide transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in morphogenesis of an epithelium	IEA Inferred from Electronic Annotation more info
involved_in neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in one-carbon metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cellular pH reduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dipeptide transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic transmission, GABAergic	IEA Inferred from Electronic Annotation more info
involved_in regulation of chloride transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of intracellular pH	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of monoatomic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in apical part of cell	IBA Inferred from Biological aspect of Ancestor more info
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: carbonic anhydrase 2

Names: carbonate dehydratase II; carbonic anhydrase B; carbonic anhydrase C; carbonic anhydrase II; carbonic dehydratase; cyanamide hydratase CA2; epididymis luminal protein 76; epididymis secretory protein Li 282

NP_000058.1

EC 4.2.1.1

EC 4.2.1.69

NP_001280604.1

EC 4.2.1.1

EC 4.2.1.69

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007287.1 RefSeqGene

Range

4991..22477

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000067.3 → NP_000058.1 carbonic anhydrase 2 isoform 1

See identical proteins and their annotated locations for NP_000058.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC084734, DA431650, J03037, M36532

Consensus CDS

CCDS6239.1

UniProtKB/Swiss-Prot

B2R7G8, P00918, Q6FI12, Q96ET9

UniProtKB/TrEMBL

A0A0K0K1L1, V9HW21

Related

ENSP00000285379.4, ENST00000285379.10

Conserved Domains (1) summary

cd03119
Location:1 → 259

alpha_CA_I_II_III_XIII; Carbonic anhydrase alpha, isozymes I, II, and III and XIII. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on ...
NM_001293675.2 → NP_001280604.1 carbonic anhydrase 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate coding exon and initiates translation at a downstream AUG compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC084734, CD013933, FJ224289

UniProtKB/TrEMBL

V9HW21

Conserved Domains (1) summary

cl00012
Location:16 → 158

alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...