CA7 carbonic anhydrase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA7provided by HGNC
Official Full Name: carbonic anhydrase 7provided by HGNC
Primary source: HGNC:HGNC:1381
See related: Ensembl:ENSG00000168748 MIM:114770; AllianceGenome:HGNC:1381
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: CAVII; CA-VII
Summary: Carbonic anhydrases 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. The cytosolic protein encoded by this gene is predominantly expressed in the brain and contributes to bicarbonate driven GABAergic neuron excitation. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2018]
Expression: Biased expression in colon (RPKM 16.2), small intestine (RPKM 3.6) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (66844414..66854147)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72638709..72648442)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (66878317..66888050)

Chromosome 16 - NC_000016.10 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?

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.
CA II and CA XII, but not CA VII or CA IX, could be useful in predicting survival in colorectal carcinomas
Title: Carbonic anhydrase enzymes II, VII, IX and XII in colorectal carcinomas.
Our results indicate that decreased expression of CA7 correlates with disease progression and predicts poor prognosis in CRC, especially for patients with early stage tumors.
Title: Prognostic value of carbonic anhydrase VII expression in colorectal carcinoma.
native hCA VII can protect cells from oxidative damage by preventing the apoptosis cascade and that cysteines play a leading role in this process
Title: Human carbonic anhydrase VII protects cells from oxidative damage.
conclude that the full-length CA VII is a predominant active form in human brain and also in other tissues. In addition to the brain, CA VII is expressed in several other organs including the stomach, duodenum, colon, liver, and skeletal muscle
Title: Analysis of a shortened form of human carbonic anhydrase VII expressed in vitro compared to the full-length enzyme.
GABAergic transmission is influenced by the neuronal expression of carbonic anhydrase cavii--REVIEW
Title: Two developmental switches in GABAergic signalling: the K+-Cl- cotransporter KCC2 and carbonic anhydrase CAVII.
these data furnish further evidence that hCA VII is the isozyme responsible for the anticonvulsant/antiepileptic activity of sulfonamides and sulfamates
Title: Carbonic anhydrase inhibitors. Inhibition of the human cytosolic isozyme VII with aromatic and heterocyclic sulfonamides.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cellular pH reduction	IEA Inferred from Electronic Annotation 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

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: carbonic anhydrase 7

Names: carbonate dehydratase VII; carbonic anhydrase VII; carbonic dehydratase VII

NP_001014435.1

EC 4.2.1.1

NP_001352266.1

EC 4.2.1.1

NP_005173.1

EC 4.2.1.1

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.

mRNA and Protein(s)

NM_001014435.2 → NP_001014435.1 carbonic anhydrase 7 isoform 2

See identical proteins and their annotated locations for NP_001014435.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a distinct 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same protein.

Source sequence(s)

AC044802

Consensus CDS

CCDS42173.1

UniProtKB/Swiss-Prot

P43166

Related

ENSP00000377632.3, ENST00000394069.3

Conserved Domains (1) summary

cl00012
Location:1 → 206

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 ...
NM_001365337.2 → NP_001352266.1 carbonic anhydrase 7 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) has a distinct 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same protein.

Source sequence(s)

AC044802

Consensus CDS

CCDS42173.1

Conserved Domains (1) summary

cl00012
Location:1 → 206

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 ...
NM_005182.3 → NP_005173.1 carbonic anhydrase 7 isoform 1

See identical proteins and their annotated locations for NP_005173.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents a shorter transcript but encodes the longer isoform (1).

Source sequence(s)

AC044802

Consensus CDS

CCDS10821.1

UniProtKB/Swiss-Prot

P43166, Q541F0, Q86YU0

Related

ENSP00000345659.2, ENST00000338437.7

Conserved Domains (1) summary

cd03149
Location:27 → 262

alpha_CA_VII; Carbonic anhydrase alpha, CA isozyme VII_like subgroup. 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 ...