Gabrg2 MGI Mouse Gene Detail - MGI:95623 - gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2

Gabrg2 Gene Detail

Symbol

Gabrg2
Name

gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2
Synonyms

GABAA-R, Gabrg-2, gamma2

Feature Type

protein coding gene
IDs

MGI:95623
NCBI Gene: 14406
Gene Overview

MyGene.info: GABRG2
Alliance

gene page

Sequence Map

Chr11:41910203-42000857 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

90655 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 24.80 cM
Mapping Data

11 experiments

Human Ortholog

GABRG2, gamma-aminobutyric acid type A receptor gamma2 subunit

Vertebrate Orthologs

10

Human Ortholog

GABRG2, gamma-aminobutyric acid type A receptor gamma2 subunit
Orthology source: HomoloGene, HGNC
Synonyms

CAE2, ECA2, GEFSP3
Links

HGNC:4087

NCBI Gene ID: 2566

neXtProt AC: NX_P18507

UniProt: P18507
Chr Location

5q34; chr5:162067642-162155539 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 22443
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: GABRG2
Gene Tree

Gabrg2

Diseases

2 with human GABRG2 associations

				Human Disease	Mouse Models
				childhood absence epilepsy IDs childhood absence epilepsy DOID:1825 MESH:D004832 NCI:C3023 OMIM:607681 OMIM:611942 OMIM:612269 UMLS_CUI:C0014553
				generalized epilepsy with febrile seizures plus IDs generalized epilepsy with febrile seizures plus DOID:0060170 ICD10CM:G40.3 OMIM:604233 OMIM:604403 OMIM:609800 OMIM:611277 OMIM:612279 OMIM:613828 OMIM:613863 ORDO:36387

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

35 phenotypes from 11 alleles in 14 genetic backgrounds
1 images
60 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

17
Chemically induced (other)

1
Gene trapped

1
Radiation induced

1
Targeted

14
Genomic Mutations

2 involving Gabrg2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

11 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors.

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All GO Annotations

61
GO References

9

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

293
Tissues

58
cDNA Data

40
Literature Summary

20

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gabrg2

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Gabrg2 interacts with 334 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

72
RefSeq

8
UniProt

4
CCDS

CCDS24551.1, CCDS24552.2
UniGene

5309

			Length	Strain/Species	Flank
genomic	OTTMUSG00000006345	VEGA Gene Model \| MGI Sequence Detail	90655	C57BL/6J	± kb
transcript	OTTMUST00000014428	VEGA \| MGI Sequence Detail	2234	Not Applicable
polypeptide	OTTMUSP00000065449	VEGA \| MGI Sequence Detail	474	Not Applicable

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SNPs within 2kb

563 from dbSNP Build 142

PCR

1
RFLP

1

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UniProt

4 Sequences
Protein Ontology

PR:000007778 gamma-aminobutyric acid receptor subunit gamma-2

(term hierarchy)
InterPro Domains

IPR005439 Gamma-aminobutyric-acid A receptor, gamma 2 subunit

IPR005437 Gamma-aminobutyric-acid A receptor, gamma subunit

IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha

IPR006201 Neurotransmitter-gated ion-channel

IPR018000 Neurotransmitter-gated ion-channel, conserved site

IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain

IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily

IPR006029 Neurotransmitter-gated ion-channel transmembrane domain

IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily

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All nucleic 46

Genomic 1

cDNA 42

Primer pair 3

Microarray probesets 5

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MGD-MRK-9940, MGD-MRK-9942, MGI:2144307, MGI:2144603

Summaries

All 149

Developmental Gene Expression 20

Gene Ontology 9

Phenotypes 60
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:262751 Ahrens S, et al., A Central Extended Amygdala Circuit That Modulates Anxiety. J Neurosci. 2018 Jun 13;38(24):5567-5583

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 10/09/2018 MGI 6.12