CA12 carbonic anhydrase 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA12provided by HGNC
Official Full Name: carbonic anhydrase 12provided by HGNC
Primary source: HGNC:HGNC:1371
See related: Ensembl:ENSG00000074410 MIM:603263; AllianceGenome:HGNC:1371
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: CAXII; CA-XII; T18816; HsT18816
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. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]
Expression: Biased expression in kidney (RPKM 105.5), skin (RPKM 54.4) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (63321378..63381846, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (61126049..61186532, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (63613577..63674045, complement)

Chromosome 15 - NC_000015.10 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
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?

Trafficking of carbonic anhydrase 12 and bicarbonate transporters by histamine stimulation mediates intracellular acidic scenario in lung cancer cells.
Title: Trafficking of carbonic anhydrase 12 and bicarbonate transporters by histamine stimulation mediates intracellular acidic scenario in lung cancer cells.
Carbonic anhydrase XII mediates the survival and prometastatic functions of macrophages in human hepatocellular carcinoma.
Title: Carbonic anhydrase XII mediates the survival and prometastatic functions of macrophages in human hepatocellular carcinoma.
Carbonic anhydrase 12 gene silencing reverses the sensitivity of paclitaxel in drug-resistant breast cancer cells.
Title: Carbonic anhydrase 12 gene silencing reverses the sensitivity of paclitaxel in drug-resistant breast cancer cells.
Carbonic Anhydrase XII Expression Is Modulated during Epithelial Mesenchymal Transition and Regulated through Protein Kinase C Signaling.
Title: Carbonic Anhydrase XII Expression Is Modulated during Epithelial Mesenchymal Transition and Regulated through Protein Kinase C Signaling.
CA12 plays vital roles in occurrence of congenital bilateral absence of vas deferens
Title: SCNN1B and CA12 play vital roles in occurrence of congenital bilateral absence of vas deferens (CBAVD).
Knockout of GLI1 and CAXII significantly decreased hallmarks of tumor aggressiveness including proliferation and migration.
Title: Carbonic anhydrase XII expression is linked to suppression of Sonic hedgehog ligand expression in triple negative breast cancer cells.
Our results may contribute to further understand the physiology of Breast cancer (BC) cells and indicate that the Hh pathway controls Breast cancer (BC) cell migration and cell invasion also through CAXII, with important implications in identifying novel therapeutic targets.
Title: Inhibition of smoothened in breast cancer cells reduces CAXII expression and cell migration.
CA12 was significant higher expressing in breast cancer tissues
Title: High expression of carbonic anhydrase 12 (CA12) is associated with good prognosis in breast cancer.
Our newly identified humanized CA12-antibody with anti-cancer activity, represents a new tool for the treatment of CA12-positive tumors.
Title: Humanized Monoclonal Antibody Blocking Carbonic Anhydrase 12 Enzymatic Activity Leads to Reduced Tumor Growth In Vitro.
Selective inhibition of carbonic anhydrase IX over carbonic anhydrase XII in breast cancer cells using benzene sulfonamides: Disconnect between activity and growth inhibition.
Title: Selective inhibition of carbonic anhydrase IX over carbonic anhydrase XII in breast cancer cells using benzene sulfonamides: Disconnect between activity and growth inhibition.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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
Isolated hyperchlorhidrosis MedGen: C1840437 OMIM: 143860 GeneReviews: Not available	Compare labs

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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of carbonic anhydrase XII (CA12) in peptide-treated PBMCs	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of carbonic anhydrase XII (CA12) in primary human brain microvascular endothelial cells	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human carbonic anhydrase XII (CA12) at amino acid residues 268-269 by the HIV-1 protease	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

D15S1357 (e-PCR)
- UniSTS:19968

SHGC-147205 (e-PCR)
- UniSTS:175677

SHGC-36693 (e-PCR)
- UniSTS:69750

CA12_8238 (e-PCR)
- UniSTS:467591

SHGC-32776 (e-PCR)
- UniSTS:17062

SHGC-144530 (e-PCR)
- UniSTS:174270

RH47249 (e-PCR)
- UniSTS:472

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 chloride ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in estrous cycle	IEA Inferred from Electronic Annotation more info
involved_in one-carbon metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: carbonic anhydrase 12

Names: carbonate dehydratase XII; carbonic anhydrase XII; carbonic dehydratase; tumor antigen HOM-RCC-3.1.3

NP_001209.1

EC 4.2.1.1

NP_001280571.1

EC 4.2.1.1

NP_996808.1

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.

Genomic

NG_028022.2 RefSeqGene

Range

5321..65789

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001218.5 → NP_001209.1 carbonic anhydrase 12 isoform 1 precursor

See identical proteins and their annotated locations for NP_001209.1

Status: REVIEWED

Description

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

Source sequence(s)

AC016207, AC087525, BC023981

Consensus CDS

CCDS10185.1

UniProtKB/Swiss-Prot

B2RE24, O43570, Q53YE5, Q9BWG2

Related

ENSP00000178638.3, ENST00000178638.8

Conserved Domains (1) summary

cd03126
Location:39 → 289

alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...
NM_001293642.2 → NP_001280571.1 carbonic anhydrase 12 isoform 3 precursor

See identical proteins and their annotated locations for NP_001280571.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC016207, AC087525, AK096845

Consensus CDS

CCDS76767.1

UniProtKB/TrEMBL

B3KUB4

Related

ENSP00000403028.2, ENST00000422263.2

Conserved Domains (1) summary

cl00012
Location:36 → 229

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_206925.3 → NP_996808.1 carbonic anhydrase 12 isoform 2 precursor

See identical proteins and their annotated locations for NP_996808.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC016207, AC087525, BC011691, DA546357

Consensus CDS

CCDS10186.1

UniProtKB/Swiss-Prot

O43570

Related

ENSP00000343088.3, ENST00000344366.7

Conserved Domains (1) summary

cd03126
Location:39 → 289

alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...