Description
gamma-aminobutyric acid (GABA) A receptor, beta 3 [Source:HGNC Symbol;Acc:4083]
Gene Synonyms
ECA5
Location
Chromosome 15: 26,788,693-27,184,686 reverse strand.
GRCh37:CM000677.1
About this gene
This gene has 13 transcripts (splice variants), 13 paralogues and is associated with 7 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000541819.2 | GABRB3-003 | 5934 | 529aa | ENSP00000442408.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H7N0 G3V5B4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000311550.5 | GABRB3-002 | 5781 | 473aa | ENSP00000308725.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10019 | G3V5B4 P28472 | NM_001278631.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000299267.4 | GABRB3-001 | 3107 | 473aa | ENSP00000299267.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10018 | G3V5B4 P28472 | NM_021912.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000400188.3 | GABRB3-006 | 1900 | 402aa | ENSP00000383049.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53921 | G3V5B4 P28472 | NM_001191321.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000545868.1 | GABRB3-004 | 1494 | 388aa | ENSP00000439169.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53920 | G3V5B4 P28472 | NM_001191320.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000555094.1 | GABRB3-011 | 515 | 138aa | ENSP00000452272.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V5B4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000555632.1 | GABRB3-012 | 2107 | 87aa | ENSP00000452041.1 | Nonsense mediated decay | G3V4W7 | - | - | |
| ENST00000556166.1 | GABRB3-005 | 1583 | 81aa | ENSP00000451430.1 | Nonsense mediated decay | G3V3U3 | - | - | |
| ENST00000554556.1 | GABRB3-009 | 817 | 105aa | ENSP00000451077.1 | Nonsense mediated decay | G3V373 | - | - | |
| ENST00000556636.1 | GABRB3-013 | 501 | 44aa | ENSP00000452159.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000557641.1 | GABRB3-010 | 828 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000554722.1 | GABRB3-008 | 406 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557765.1 | GABRB3-014 | 560 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
