GLRA2 glycine receptor alpha 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLRA2provided by HGNC
Official Full Name: glycine receptor alpha 2provided by HGNC
Primary source: HGNC:HGNC:4327
See related: Ensembl:ENSG00000101958 MIM:305990; AllianceGenome:HGNC:4327
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: GLR; MRXSP
Summary: The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Expression: Biased expression in brain (RPKM 1.9) and colon (RPKM 0.8) See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (14448779..14731812)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (14029009..14312340)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (14547420..14749934)

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 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?

GLRA2 gene mutations cause high myopia in humans and mice.
Title: GLRA2 gene mutations cause high myopia in humans and mice.
data show that the current-voltage relationships of homomeric channels formed by the alpha2 or alpha3 subunits change upon receptor desensitization from a linear to an inwardly rectifying shape, in contrast to their heteromeric counterparts.
Title: Electrophysiological Signature of Homomeric and Heteromeric Glycine Receptor Channels.
investigated neural progenitor cells in respect to their glycine receptor function and subunit expression using electrophysiology, calcium imaging, immunocytochemistry, and quantitative real-time PCR
Title: Differentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunits.
Enhancement of azurophil granule-phagosome fusion via glycine receptor alpha 2 subunit (GlyRalpha2)/transient receptor potential melastatin (TRPM)2/p38 MAP kinase signaling is a novel target for enhancement of neutrophil bactericidal activity.
Title: Lysophosphatidylcholine increases neutrophil bactericidal activity by enhancement of azurophil granule-phagosome fusion via glycine.GlyR alpha 2/TRPM2/p38 MAPK signaling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetical genomic determinants of alcohol consumption in rats and humans.
The molecular basis for the differential sensitivity of GlyR alpha(1) and GlyR alpha(2) to Zn(2+) potentiation is reported.
Title: Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors.
Effects of 12 times normal atmospheric pressure of helium-oxygen gas (pressure) on ethanol-induced potentiation of GlyR function in Xenopus oocytes expressing human alpha1, alpha2 or the mutant alpha1(A52S) GlyRs were measured by voltage clamp technics
Title: Multiple sites of ethanol action in alpha1 and alpha2 glycine receptors suggested by sensitivity to pressure antagonism.

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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
Intellectual developmental disorder, X-linked, syndromic, Pilorge type MedGen: C5676881 OMIM: 301076 GeneReviews: Not available	not available

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

DXS7951 (e-PCR)
- UniSTS:99585

RH121803 (e-PCR)
- UniSTS:134952

AFM120xa9 (e-PCR), detects polymorphism
- UniSTS:86846

AF026404 (e-PCR)
- UniSTS:46947

RH71280 (e-PCR)
- UniSTS:3701

GLRA2 (e-PCR)
- UniSTS:506517

DXS7594 (e-PCR)
- UniSTS:2454

GLRA2_2389 (e-PCR)
- UniSTS:471446

GDB:604017 (e-PCR)
- UniSTS:99227

GLYRA1 (e-PCR)
- UniSTS:98986

DXS7091 (e-PCR)
- UniSTS:48832

1410 (e-PCR)
- UniSTS:72930

DXS987 (e-PCR), detects polymorphism
- UniSTS:150013

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables excitatory extracellular ligand-gated monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellularly glycine-gated chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables glycine binding	IDA Inferred from Direct Assay more info	PubMed
enables glycine-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to amino acid stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to ethanol	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to zinc ion	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in glycinergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor 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
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: glycine receptor subunit alpha-2

Names: glycine receptor alpha 2 subunit; glycine receptor, alpha-2 polypeptide

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_016459.3 RefSeqGene

Range

85759..288035

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001118885.2 → NP_001112357.1 glycine receptor subunit alpha-2 isoform A precursor

See identical proteins and their annotated locations for NP_001112357.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (A).

Source sequence(s)

AA081959, AK312591, BC045547

Consensus CDS

CCDS14160.1

UniProtKB/Swiss-Prot

A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862

UniProtKB/TrEMBL

B7Z4E9

Conserved Domains (1) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein
NM_001118886.2 → NP_001112358.1 glycine receptor subunit alpha-2 isoform B precursor

See identical proteins and their annotated locations for NP_001112358.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate in-frame exon and lacks an exon, compared to variant 1, resulting in a protein (isoform B) of identical length but differing in 2 amino acids, compared to isoform A.

Source sequence(s)

AA081959, AK289561, AY437083, BC045547, DA495302

Consensus CDS

CCDS48085.1

UniProtKB/TrEMBL

B7Z4E9

Related

ENSP00000347123.4, ENST00000355020.9

Conserved Domains (3) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein

pfam02931
Location:48 → 254

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:261 → 438

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001171942.2 → NP_001165413.1 glycine receptor subunit alpha-2 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (C) is shorter at the N-terminus compared to isoform A.

Source sequence(s)

AC003658, AK297304, AK312591, BC045547

Consensus CDS

CCDS55371.1

UniProtKB/TrEMBL

B7Z4E9

Conserved Domains (1) summary

cl27321
Location:1 → 352

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
NM_002063.4 → NP_002054.1 glycine receptor subunit alpha-2 isoform A precursor

See identical proteins and their annotated locations for NP_002054.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform A.

Source sequence(s)

AA081959, AY437083, BC045547, DA495302

Consensus CDS

CCDS14160.1

UniProtKB/Swiss-Prot

A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862

UniProtKB/TrEMBL

B7Z4E9

Related

ENSP00000218075.4, ENST00000218075.9

Conserved Domains (1) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

14448779..14731812

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441999.1 → XP_047297955.1 glycine receptor subunit alpha-2 isoform X2

UniProtKB/Swiss-Prot

A8K0J6, B2R6I8, B7Z4F5, J3KQ59, P23416, Q53YX7, Q6ICQ0, Q99862
XM_017029427.2 → XP_016884916.1 glycine receptor subunit alpha-2 isoform X1

UniProtKB/TrEMBL

B7Z4E9

Conserved Domains (3) summary

TIGR00860
Location:46 → 441

LIC; Cation transporter family protein

pfam02931
Location:48 → 254

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:261 → 438

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_006724487.4 → XP_006724550.1 glycine receptor subunit alpha-2 isoform X3

See identical proteins and their annotated locations for XP_006724550.1

UniProtKB/TrEMBL

B7Z4E9

Conserved Domains (1) summary

TIGR00860
Location:30 → 425

LIC; Cation transporter family protein
XM_047442000.1 → XP_047297956.1 glycine receptor subunit alpha-2 isoform X4