Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GLRA1
Previous Symbol	STHE
Approved Name	glycine receptor, alpha 1
Previous Name	glycine receptor, alpha 1 (startle disease/hyperekplexia)
Name Alias	startle disease/hyperekplexia, "stiff person syndrome"
Location	5q33.1
Position	chr5:151822513-151924842, -1
External Links	HGNC: 4326 Entrez Gene: 2741 Ensembl: ENSG00000145888 UCSC: uc003lut.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gratacos, M.,2009	SNP: rs2071220	Nominal associations with bipolar disorder was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 34)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006811	ion transport	biological process	IDA[2155780]	18
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016021	integral component of membrane	cellular component	NAS[15952785]	219
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005887	integral component of plasma membrane	cellular component	IDA[7506679]; IMP[11973623]; NAS[2155780]	158

GO terms by database search (count: 29)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0060080	regulation of inhibitory postsynaptic membrane potential	biological process	IEA	4
GO:0006936	muscle contraction	biological process	IMP[11973623]	10
GO:0016594	glycine binding	molecular function	IDA[15748848]	6
GO:2000344	positive regulation of acrosome reaction	biological process	IMP[11751269]	1
GO:0050884	neuromuscular process controlling posture	biological process	IEA	2
GO:0002087	regulation of respiratory gaseous exchange by neurological system process	biological process	IEA	2
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0016934	extracellular-glycine-gated chloride channel activity	molecular function	IDA[2155780]; IGI[8717357]; IMP[7920629]	1
GO:0007218	neuropeptide signaling pathway	biological process	IDA[2155780]	18
GO:0007601	visual perception	biological process	IEA	15
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0030054	cell junction	cellular component	IEA	88
GO:0022824	transmitter-gated ion channel activity	molecular function	IEA	1
GO:0060013	righting reflex	biological process	IEA	3
GO:1902476	chloride transmembrane transport	biological process	IDA[2155780]; IEA; IGI[8717357]; IMP[7920629]	16
GO:0006821	chloride transport	biological process	IDA[8137830]	4
GO:0007628	adult walking behavior	biological process	IEA	9
GO:0060012	synaptic transmission, glycinergic	biological process	IEA	2
GO:0005515	protein binding	molecular function	IPI[11929858]	563
GO:0001964	startle response	biological process	IMP[11973623]	7
GO:0001508	action potential	biological process	IEA	6
GO:0009897	external side of plasma membrane	cellular component	IEA	21
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA[7506679]	34
GO:0042391	regulation of membrane potential	biological process	IMP[7920629]	13
GO:0007340	acrosome reaction	biological process	IEA	1
GO:0060077	inhibitory synapse	cellular component	IEA	1
GO:0030977	taurine binding	molecular function	IDA[15748848]	1
GO:0051970	negative regulation of transmission of nerve impulse	biological process	IMP[11973623]	1
GO:0034707	chloride channel complex	cellular component	IEA	13

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2071220	chr5:151925199 - 151925199(1)	upstream_gene_variant	1(1/0/0)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs991738	chr5:151918888 - 151918888(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs6877199	chr5:151894556 - 151894556(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4958283	chr5:151902982 - 151902982(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4467698	chr5:151890561 - 151890561(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2071221	chr5:151924745 - 151924745(1)	5_prime_UTR_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs7712434	chr5:151923779 - 151923779(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7729457	chr5:151920464 - 151920464(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)
5q32-5q33.3	chr5:145100000-160500000	1 (0/1/0)
5q33	chr5:150400000-160500000	2 (0/1/1)
5q33-34	chr5:150400000-169000000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr5:151822513..151924842 View in gBrowse