GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRG2provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit gamma2provided by HGNC
Primary source: HGNC:HGNC:4087
See related: Ensembl:ENSG00000113327 MIM:137164; AllianceGenome:HGNC:4087
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: CAE2; ECA2; FEB8; DEE74; EIEE74; GEFSP3
Summary: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 32.3) See more
Orthologs: mouse all
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Genomic context

Location:: 5q34

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (162067465..162155539)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (162596314..162684391)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (161494471..161582545)

Chromosome 5 - NC_000005.10 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?

Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations.
Title: Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations.
Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population.
Title: Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population.
Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
Title: Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
GABRG2 Variants Associated with Febrile Seizures.
Title: GABRG2 Variants Associated with Febrile Seizures.
GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort.
Title: GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort.
An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.
Title: An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.
Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy.
Title: Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy.
Impact of GABAA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.
Title: Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.
Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment.
Title: Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment.
The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice.
Title: The K328M substitution in the human GABA(A) receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice.

Submit: New GeneRIF Correction See all GeneRIFs (113)

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
Developmental and epileptic encephalopathy, 74 MedGen: C5193074 OMIM: 618396 GeneReviews: Not available	Compare labs
Febrile seizures, familial, 8 MedGen: C1969810 OMIM: 607681 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-09-25) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-09-25) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat activates a CaMKII pathway at inhibitory synapses that leads to structural changes in GABARAP, resulting in increased membrane insertion of the gamma 2 subunit of GABAR	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

bac51814T (e-PCR)
- UniSTS:181511

NoName (e-PCR)
- UniSTS:482058

GABRG2 (e-PCR)
- UniSTS:504853

GDB:351021 (e-PCR)
- UniSTS:156700

G05059 (e-PCR)
- UniSTS:20765

RH65298 (e-PCR)
- UniSTS:52562

GABRG2_2155 (e-PCR)
- UniSTS:280687

NoName (e-PCR)
- UniSTS:481177

ha2182 (e-PCR)
- UniSTS:515503

RH106540 (e-PCR)
- UniSTS:209617

WI-19173 (e-PCR)
- UniSTS:25045

D5S2576 (e-PCR)
- UniSTS:67314

STS-X15376 (e-PCR)
- UniSTS:69624

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-A receptor activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to benzodiazepine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 adult behavior	IEA Inferred from Electronic Annotation more info
involved_in cellular response to histamine	ISS Inferred from Sequence or Structural Similarity 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 chloride transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in gamma-aminobutyric acid signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in inhibitory synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibitory synapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, GABAergic	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GABA-A receptor complex	IPI Inferred from Physical Interaction more info	PubMed
part_of GABA-A receptor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite membrane	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic specialization membrane	ISS Inferred from Sequence or Structural Similarity 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: gamma-aminobutyric acid receptor subunit gamma-2

Names: GABA(A) receptor subunit gamma-2; GABA(A) receptor, gamma 2; gamma-aminobutyric acid (GABA) A receptor, gamma 2; gamma-aminobutyric acid type A receptor gamma2 subunit

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_009290.1 RefSeqGene

Range

5132..92885

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000816.3 → NP_000807.2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor

See identical proteins and their annotated locations for NP_000807.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 3. It encodes isoform 2 which is shorter than isoform 3.

Source sequence(s)

AC091984, BC069348, BC074795, DA226729

Consensus CDS

CCDS4358.1

UniProtKB/TrEMBL

A0A286YFI6

Related

ENSP00000492125.2, ENST00000639111.2

Conserved Domains (2) summary

TIGR00860
Location:69 → 464

LIC; Cation transporter family protein

cd19000
Location:90 → 271

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375339.1 → NP_001362268.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

UniProtKB/TrEMBL

A0A1X7SBS5

Conserved Domains (2) summary

TIGR00860
Location:66 → 469

LIC; Cation transporter family protein

cd19000
Location:87 → 268

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375340.1 → NP_001362269.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

UniProtKB/TrEMBL

A0A1W2PPN5, A0A1W2PPS4

Conserved Domains (3) summary

cd19000
Location:90 → 271

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma

cd03559
Location:277 → 297

LGIC_TM; TM1 helix [structural motif]

cl38911
Location:274 → 307

LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels
NM_001375341.1 → NP_001362270.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 6 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

UniProtKB/TrEMBL

A0A1X7SBS5

Conserved Domains (2) summary

cd19000
Location:90 → 270

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma

cl42365
Location:69 → 471

LIC; Cation transporter family protein
NM_001375342.1 → NP_001362271.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 7 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

UniProtKB/TrEMBL

A0A286YFI6

Conserved Domains (2) summary

TIGR00860
Location:69 → 463

LIC; Cation transporter family protein

cd19000
Location:90 → 270

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375343.1 → NP_001362272.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 8 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

Consensus CDS

CCDS93813.1

UniProtKB/TrEMBL

A0A1X7SBZ8, A0A286YFI6

Related

ENSP00000354651.5, ENST00000361925.9

Conserved Domains (2) summary

TIGR00860
Location:69 → 504

LIC; Cation transporter family protein

cd19000
Location:90 → 311

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375344.1 → NP_001362273.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 9 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

UniProtKB/TrEMBL

A0A1X7SBS5

Related

ENSP00000349000.4, ENST00000356592.8

Conserved Domains (2) summary

cd19000
Location:90 → 284

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma

cl42365
Location:69 → 485

LIC; Cation transporter family protein
NM_001375345.1 → NP_001362274.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 10 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

Consensus CDS

CCDS93815.1

UniProtKB/TrEMBL

A0A1W2PR49, A0A1X7SBS5

Related

ENSP00000492096.1, ENST00000639975.1

Conserved Domains (2) summary

TIGR00860
Location:47 → 442

LIC; Cation transporter family protein

cd19000
Location:68 → 249

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375346.1 → NP_001362275.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 11 precursor

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

Consensus CDS

CCDS93814.1

UniProtKB/TrEMBL

A0A1W2PRN4, A0A1X7SBS5

Related

ENSP00000492581.1, ENST00000639683.1

Conserved Domains (2) summary

TIGR00860
Location:47 → 450

LIC; Cation transporter family protein

cd19000
Location:68 → 249

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375347.1 → NP_001362276.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 12

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

Consensus CDS

CCDS93812.1

UniProtKB/TrEMBL

A0A1W2PQR9, A0A1X7SBS5

Related

ENSP00000492293.1, ENST00000640985.1

Conserved Domains (2) summary

TIGR00860
Location:40 → 443

LIC; Cation transporter family protein

cd19000
Location:61 → 242

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375348.1 → NP_001362277.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 13

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

Conserved Domains (2) summary

TIGR00860
Location:3 → 324

LIC; Cation transporter family protein

cl28912
Location:1 → 131

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
NM_001375349.1 → NP_001362278.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 14

Status: REVIEWED

Source sequence(s)

AC008611, AC091984, AK299640

Consensus CDS

CCDS93816.1

UniProtKB/TrEMBL

A8MWU7, B4DSA1, C9JAR3

Related

ENSP00000491763.1, ENST00000638552.1

Conserved Domains (2) summary

TIGR00860
Location:2 → 369

LIC; Cation transporter family protein

cd19000
Location:1 → 176

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
NM_001375350.1 → NP_001362279.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 15

Status: REVIEWED

Source sequence(s)

AC008611, AC091926, AC091984

Conserved Domains (2) summary

TIGR00860
Location:3 → 332

LIC; Cation transporter family protein

cl28912
Location:1 → 131

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
NM_198903.2 → NP_944493.2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (3).

Source sequence(s)

AC008611, AC091926, AC091984

Consensus CDS

CCDS47333.1

UniProtKB/TrEMBL

A0A1X7SBS5

Related

ENSP00000410732.2, ENST00000414552.6

Conserved Domains (3) summary

TIGR00860
Location:69 → 512

LIC; Cation transporter family protein

pfam02931
Location:69 → 312

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:319 → 509

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_198904.4 → NP_944494.1 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor

See identical proteins and their annotated locations for NP_944494.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon, compared to variant 3. It encodes isoform 1 which is shorter than isoform 3.

Source sequence(s)

AC008611, AC091984, AK315200

Consensus CDS

CCDS4359.1

UniProtKB/Swiss-Prot

F5HB82, P18507, Q6GRL6, Q6PCC3, Q9UDB3, Q9UN15

UniProtKB/TrEMBL

A0A1X7SBS5

Related

ENSP00000491909.2, ENST00000639213.2

Conserved Domains (2) summary

TIGR00860
Location:69 → 472

LIC; Cation transporter family protein

cd19000
Location:90 → 271

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma