Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2742
Gene name	Glycine receptor alpha 2
Gene symbol	GLRA2
Synonyms (NCBI Gene)	GLRMRXSP
Chromosome	X
Chromosome location	Xp22.2
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.[pro

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017796	hsa-miR-335-5p	Microarray	18185580
MIRT607151	hsa-miR-7705	HITS-CLIP	23824327
MIRT607150	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607148	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607151	hsa-miR-7705	HITS-CLIP	24906430
MIRT607150	hsa-miR-223-5p	HITS-CLIP	24906430
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607148	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607151	hsa-miR-7705	HITS-CLIP	24906430
MIRT607150	hsa-miR-223-5p	HITS-CLIP	24906430
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607148	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT442666	hsa-miR-3651	PAR-CLIP	22100165
MIRT442664	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT442663	hsa-miR-6767-3p	PAR-CLIP	22100165
MIRT442662	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT607150	hsa-miR-223-5p	PAR-CLIP	27292025
MIRT607148	hsa-miR-574-5p	PAR-CLIP	27292025
MIRT607149	hsa-miR-6867-5p	PAR-CLIP	27292025
MIRT607151	hsa-miR-7705	PAR-CLIP	27292025
MIRT607150	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT607150	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT607150	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT607150	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT607148	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607148	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607148	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607148	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607148	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607151	hsa-miR-7705	HITS-CLIP	27418678
MIRT607151	hsa-miR-7705	HITS-CLIP	27418678
MIRT607151	hsa-miR-7705	HITS-CLIP	27418678
MIRT607151	hsa-miR-7705	HITS-CLIP	27418678
MIRT607151	hsa-miR-7705	HITS-CLIP	23824327
MIRT607150	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT607149	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607148	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT442666	hsa-miR-3651	PAR-CLIP	22100165
MIRT442664	hsa-miR-330-3p	PAR-CLIP	22100165
MIRT442663	hsa-miR-6767-3p	PAR-CLIP	22100165
MIRT442662	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT1021400	hsa-miR-1208	CLIP-seq
MIRT1021401	hsa-miR-147	CLIP-seq
MIRT1021402	hsa-miR-3120-3p	CLIP-seq
MIRT1021403	hsa-miR-3647-5p	CLIP-seq
MIRT1021404	hsa-miR-3661	CLIP-seq
MIRT1021405	hsa-miR-4282	CLIP-seq
MIRT1021406	hsa-miR-4495	CLIP-seq
MIRT1021407	hsa-miR-599	CLIP-seq
MIRT1021408	hsa-miR-610	CLIP-seq
MIRT1021409	hsa-miR-631	CLIP-seq
MIRT1021410	hsa-miR-1263	CLIP-seq
MIRT1021401	hsa-miR-147	CLIP-seq
MIRT1021411	hsa-miR-21	CLIP-seq
MIRT1021412	hsa-miR-3188	CLIP-seq
MIRT1021403	hsa-miR-3647-5p	CLIP-seq
MIRT1021413	hsa-miR-4266	CLIP-seq
MIRT1021414	hsa-miR-4490	CLIP-seq
MIRT1021415	hsa-miR-4695-5p	CLIP-seq
MIRT1021416	hsa-miR-4774-5p	CLIP-seq
MIRT1021417	hsa-miR-4779	CLIP-seq
MIRT1021418	hsa-miR-548ac	CLIP-seq
MIRT1021419	hsa-miR-548ad	CLIP-seq
MIRT1021420	hsa-miR-548ae	CLIP-seq
MIRT1021421	hsa-miR-548aj	CLIP-seq
MIRT1021422	hsa-miR-548am	CLIP-seq
MIRT1021423	hsa-miR-548an	CLIP-seq
MIRT1021424	hsa-miR-548d-3p	CLIP-seq
MIRT1021425	hsa-miR-548x	CLIP-seq
MIRT1021426	hsa-miR-548z	CLIP-seq
MIRT1021427	hsa-miR-590-5p	CLIP-seq
MIRT1021407	hsa-miR-599	CLIP-seq
MIRT2002639	hsa-miR-105	CLIP-seq
MIRT2002640	hsa-miR-3140-3p	CLIP-seq
MIRT2002641	hsa-miR-3609	CLIP-seq
MIRT2002642	hsa-miR-3689a-5p	CLIP-seq
MIRT2002643	hsa-miR-3689b	CLIP-seq
MIRT2002644	hsa-miR-3689e	CLIP-seq
MIRT2002645	hsa-miR-3689f	CLIP-seq
MIRT2002646	hsa-miR-3973	CLIP-seq
MIRT2002647	hsa-miR-4279	CLIP-seq
MIRT2002648	hsa-miR-4496	CLIP-seq
MIRT2002649	hsa-miR-4725-5p	CLIP-seq
MIRT2002650	hsa-miR-4755-3p	CLIP-seq
MIRT2002651	hsa-miR-504	CLIP-seq
MIRT2002652	hsa-miR-511	CLIP-seq
MIRT2002653	hsa-miR-520g	CLIP-seq
MIRT2002654	hsa-miR-520h	CLIP-seq
MIRT2002655	hsa-miR-548ah	CLIP-seq
MIRT2235629	hsa-miR-142-5p	CLIP-seq
MIRT2235630	hsa-miR-340	CLIP-seq
MIRT2002641	hsa-miR-3609	CLIP-seq
MIRT2002642	hsa-miR-3689a-5p	CLIP-seq
MIRT2002643	hsa-miR-3689b	CLIP-seq
MIRT2002644	hsa-miR-3689e	CLIP-seq
MIRT2002645	hsa-miR-3689f	CLIP-seq
MIRT2002646	hsa-miR-3973	CLIP-seq
MIRT2002647	hsa-miR-4279	CLIP-seq
MIRT2002653	hsa-miR-520g	CLIP-seq
MIRT2002654	hsa-miR-520h	CLIP-seq
MIRT2002655	hsa-miR-548ah	CLIP-seq
MIRT2450369	hsa-miR-1470	CLIP-seq
MIRT2002647	hsa-miR-4279	CLIP-seq
MIRT2450370	hsa-miR-4469	CLIP-seq
MIRT2450371	hsa-miR-4667-3p	CLIP-seq
MIRT2002649	hsa-miR-4725-5p	CLIP-seq
MIRT2002651	hsa-miR-504	CLIP-seq
MIRT2450372	hsa-miR-942	CLIP-seq
MIRT2450369	hsa-miR-1470	CLIP-seq
MIRT2450370	hsa-miR-4469	CLIP-seq
MIRT2450371	hsa-miR-4667-3p	CLIP-seq
MIRT2002649	hsa-miR-4725-5p	CLIP-seq
MIRT2002651	hsa-miR-504	CLIP-seq
MIRT2450369	hsa-miR-1470	CLIP-seq
MIRT2450370	hsa-miR-4469	CLIP-seq
MIRT2450371	hsa-miR-4667-3p	CLIP-seq
MIRT2002649	hsa-miR-4725-5p	CLIP-seq
MIRT2002651	hsa-miR-504	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005231	Function	Excitatory extracellular ligand-gated monoatomic ion channel activity	IBA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	2155780, 23895467
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007218	Process	Neuropeptide signaling pathway	IDA	2155780
GO:0016020	Component	Membrane	IEA
GO:0016594	Function	Glycine binding	IDA	2155780
GO:0016594	Function	Glycine binding	IEA
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IDA	2155780
GO:0016934	Function	Extracellularly glycine-gated chloride channel activity	IEA
GO:0022824	Function	Transmitter-gated monoatomic ion channel activity	IEA
GO:0022852	Function	Glycine-gated chloride ion channel activity	IDA	23895467
GO:0034220	Process	Monoatomic ion transmembrane transport	IDA	2155780
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	2155780
GO:0071294	Process	Cellular response to zinc ion	IDA	23895467
GO:0071361	Process	Cellular response to ethanol	IDA	23895467
GO:0098690	Component	Glycinergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	23895467
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
305990	4327	ENSG00000101958

P23416

Protein name

Glycine receptor subunit alpha-2

Protein function

Subunit of heteromeric glycine-gated chloride channels (PubMed:15302677, PubMed:16144831, PubMed:2155780, PubMed:23895467, PubMed:25445488, PubMed:26370147, PubMed:34473954). Plays a role in synaptic plasticity (By similarity). Contributes to th

PDB

5BKF , 5BKG , 7KUY , 7L31

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	44 → 254	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	261 → 371	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MNRQLVNILTALFAFFLETNHFRTAFCKDHDSRSGKQPSQTLSPSDFLDKLMGRTSGYDA
RIRPNFKGPPVNVTCNIFINSFGSVTETTMDYRVNIFLRQQWNDSRLAYSEYPDDSLDLD
PSMLDSIWKPDLFFANEKGANFHDVTTDNKLLRISKNGKVLYSIRLTLTLSCPMDLKNFP
MDVQTCTMQLESFGYTMNDLIFEWLSDGPVQVAEGLTLPQFILKEEKELGYCTKHYNTGK
FTCIEVKFHLERQMGYYLIQMYIPSLLIVILSWVSFWINMDAAPARVALGITTVLTMTTQ
SSGSRASLPKVSYVKAIDIWMAVCLLFVFAALLEYAAVNFVSRQHKEFLRLRRRQKRQNK
EEDVTRESRFNFSGYGMGHCLQVKDGTAVKATPANPLPQPPKDGDAIKKKFVDRAKRIDT
ISRAAFPLAFLIFNIFYWITYKIIRHEDVHKK

Sequence length

452

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Neurotransmitter receptors and postsynaptic signal transmission

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, X-linked, syndromic, Pilorge type	Likely pathogenic; Pathogenic	rs2147096455, rs1276905604, rs2147065620, rs761094724, rs1601761445	RCV002283559 RCV002248342 RCV002248344 RCV002248345 RCV002249606	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLRA2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26370147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	GENOMICS_ENGLAND_DG	29057625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26370147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30927918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20188170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	7962329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26370147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31165038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29138828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29138828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31165038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	31216557		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9674912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30927918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	9674912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11409700		★★★★★ ★☆☆☆☆ Found in Text Mining only

GLRA2 (glycine receptor alpha 2)