CNGA2 cyclic nucleotide gated channel subunit alpha 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNGA2provided by HGNC
Official Full Name: cyclic nucleotide gated channel subunit alpha 2provided by HGNC
Primary source: HGNC:HGNC:2149
See related: Ensembl:ENSG00000183862 MIM:300338; AllianceGenome:HGNC:2149
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: CNCA; CNG2; CNCA1; OCNC1; OCNCa; OCNCALPHA
Summary: The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (151734746..151745564)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (150003054..150013922)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (150903218..150914036)

Chromosome X - NC_000023.11 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
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?

The studies findings provides strong support for role of CNGA2 gene with pathogenicity of isolated congenital anosmia in humans. Together, these results indicate that mutations in key olfactory signaling pathway genes are responsible for human disease.
Title: Isolated Congenital Anosmia and CNGA2 Mutation.
Identification of a novel X-linked stop mutation in CNGA2 (c.634C>T, p.R212*) in two brothers with isolated congenital anosmia.
Title: The first mutation in CNGA2 in two brothers with anosmia.
The results showed that it is predominantly the charge of the E342 residue in the P-loop, rather than the pore helix dipoles, which controls the cation-anion selectivity of the CNGA2 channel.
Title: A single P-loop glutamate point mutation to either lysine or arginine switches the cation-anion selectivity of the CNGA2 channel.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-83601 (e-PCR)
- UniSTS:100949

CNGA2_4599 (e-PCR)
- UniSTS:462820

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cAMP binding	IEA Inferred from Electronic Annotation more info
enables cGMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables intracellularly cAMP-activated cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables intracellularly cGMP-activated cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-containing complex binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in monoatomic cation transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi-associated vesicle membrane	TAS Traceable Author Statement more info
located_in ciliary membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary membrane	TAS Traceable Author Statement more info
part_of intracellular cyclic nucleotide activated cation channel complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cyclic nucleotide-gated olfactory channel

Names: CNG channel alpha-2; cyclic nucleotide gated channel alpha 2; cyclic-nucleotide-gated cation channel 2

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_016352.1 RefSeqGene

Range

5001..15819

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005140.3 → NP_005131.1 cyclic nucleotide-gated olfactory channel

See identical proteins and their annotated locations for NP_005131.1

Status: REVIEWED

Source sequence(s)

AF002992

Consensus CDS

CCDS14701.1

UniProtKB/Swiss-Prot

A0AVD0, Q16280

UniProtKB/TrEMBL

B3KXY3

Related

ENSP00000328478.4, ENST00000329903.5

Conserved Domains (5) summary

COG0664
Location:448 → 632

Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]

cd00038
Location:454 → 570

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

pfam00520
Location:174 → 382

Ion_trans; Ion transport protein

pfam16526
Location:570 → 639

CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels

cl18962
Location:415 → 468

Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...