ZFIN Gene: gabrg2

ZFIN ID: ZDB-GENE-091118-65

ZFIN ID: ZDB-GENE-091118-65

Gene Name:

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

Gene Symbol:

gabrg2

Sequence Ontology ID :

SO:0001217

Previous Name:

si:ch211-145n14.1

Location:

Chr: 21 Mapping Details/Browsers

Nomenclature History

AUTOMATED DESCRIPTION

Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and extracellular ligand-gated ion channel activity. Predicted to be involved in several processes, including ...

GENE EXPRESSION
All Expression Data:	3 figures from 3 publications
Wild-type Stages, Structures:	Larval:Days 7-13 (168.0h-14d, 4.5mm, 8 teeth) to Adult (90d-730d, breeding adult)
	brain brainstem cerebellum diencephalon eye optic tectum telencephalon

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
la028368Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
sa17984	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa24028	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa32358	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)

PHENOTYPE No data available

DISEASE ASSOCIATED WITH gabrg2 HUMAN ORTHOLOG

Disease Ontology Term	OMIM Term	OMIM Phenotype ID
familial febrile seizures 8	Epilepsy, generalized, with febrile seizures plus, type 3	607681
	Febrile seizures, familial, 8	607681
	Epileptic encephalopathy, early infantile, 74	618396

DISEASE ASSOCIATED WITH gabrg2 VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	chloride transport (more)
Cellular Component	integral component of membrane (more)
Molecular Function	extracellular ligand-gated ion channel activity (more)

GO Terms (all 29)

PROTEIN FAMILIES, DOMAINS AND SITES
InterPro:IPR005437 (1) InterPro:IPR006028 (1) InterPro:IPR006029 (1) InterPro:IPR006201 (1) InterPro:IPR006202 (1) InterPro:IPR018000 (1) InterPro:IPR036719 (1) InterPro:IPR036734 (1)	PROSITE:PS00236 (1)	Pfam:PF02931 (1) Pfam:PF02932 (1)

TRANSCRIPTS
Type	Name	Length (bp)	Analysis
mRNA	gabrg2-201 (1)	1381	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

GENE PRODUCT DESCRIPTION

INTERACTIONS AND PATHWAYS

ANTIBODIES No data available

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM gabrg2 No data available

MARKER RELATIONSHIPS

gabrg2 Contained in:

[BAC] CH211-145N14 (1) (order this)

SEQUENCE INFORMATION

Type	Accession #	Length (bp/aa)	Analysis
Genomic	GenBank:CR847531 (1)	150363 bp	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:F1RDP2 (1)	477 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 4)

OTHER gabrg2 GENE PAGES

Alliance (1)

VEGA:OTTDARG00000031503 (1)

Ensembl(GRCz11):ENSDARG00000053665 (2)

ORTHOLOGY for gabrg2 ( Chr: 21 )

CITATIONS (28)

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