QuickView for GABRB3;jsessionid=C7B4FBA8362F6DAE5ABC19E9415E2B7C (gene)

Gene Symbol:

GABRB3 Homo sapiens

Full name:

gamma-aminobutyric acid type A receptor beta3 subunit

Synonyms:

ECA5, EIEE43, gamma-aminobutyric acid receptor subunit beta-3, GABA-alpha receptor beta-2 subunit, GABAA receptor beta-3 subunit, gamma-aminobutyric acid (GABA) A receptor, beta 3, gamma-aminobutyric acid A receptor beta 3

Genomic Location:

Chr 15: 24339786-24570020

Description:

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two oth...

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This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GTATTAT_MIR3693P ,  GCATTTG_MIR105 ,  AAAGGGA_MIR204_MIR211 ,  TTTTGAG_MIR373 ,  E2F4DP1_01 ,  YATTNATC_UNKNOWN ,  GGCACAT_MIR455 ,  TCTGATC_MIR383 ,  TACTTGA_MIR26A_MIR26B ,  TAGCTTT_MIR9 ,  CYTAGCAAY_UNKNOWN ,  ACTGTGA_MIR27A_MIR27B ,  GTACAGG_MIR486 ,  NRSF_01 ,  MEF2_02 ,  CATTTCA_MIR203 ,  E2F_Q6 ,  CAGNYGKNAAA_UNKNOWN ,  TTCYRGAA_UNKNOWN ,  E2F_Q4 ,  ATGTTAA_MIR302C ,  E2F1DP2_01 ,  AGGTGCA_MIR500 ,  E2F1DP1_01 ,  ATATGCA_MIR448 ,  E2F1DP1RB_01 ,  E2F_02 ,  E2F1_Q3 ,  CAGCCTC_MIR4855P ,  E2F4DP2_01 ,  CTGTTAC_MIR194 ,  E2F1_Q6 ,  AAGCACA_MIR218 ,  SGCGSSAAA_E2F1DP2_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-204 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-23 ,  Predicted Gene Targets for miR-383 ,  Predicted Gene Targets for miR-431 ,  Predicted Gene Targets for miR-485-5p ,  Predicted Gene Targets for miR-539 ,  Predicted Gene Targets for miR-421 ,  Predicted Gene Targets for miR-500

Cytogenetic Map:

15q12

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