Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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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 Pathway	Reactome Pathway
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)

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)

Phenotype Name	Clinical Significance	Source	Reference	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

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (16)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KLHL15	1	["Intellectual developmental disorder, x-linked"]	[]	3	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)"]
CSTF2	1	["Intellectual developmental disorder, x-linked"]	[]	3	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)"]
NKAP	1	["Intellectual developmental disorder, x-linked"]	[]	3	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)"]
ZMYM3	1	["Intellectual developmental disorder, x-linked"]	[]	3	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)"]
OGT	1	["Intellectual developmental disorder, x-linked"]	[]	3	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)"]

GLRA2 (glycine receptor alpha 2)

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