| Entrez Gene ID | 3360 |
|---|---|
| Official Gene Symbol | HTR4 (GeneCards) |
| Full name | 5-hydroxytryptamine receptor 4 |
| Location | 5q32 |
| Other ids | Vega : OTTHUMG00000129931 MIM : 602164 HGNC : HGNC:5299 Ensembl : ENSG00000164270 |
| Other names | 5-HT4, 5-HT4R |
| Summary | This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 629 | 3360 | HTR4 | 5 | 147855052 | 147855052 | Intellectual Disability | CG |
| 8429 | 3360 | HTR4 | 5 | 147842768 | 147842768 | Asymptomatic | CG HiSeq X Ten |
| 8482 | 3360 | HTR4 | 5 | 147959473 | 147959473 | Asymptomatic | CG HiSeq X Ten |
| 8620 | 3360 | HTR4 | 5 | 147874019 | 147874019 | Cockayne syndrome | CG HiSeq X Ten |
| 8718 | 3360 | HTR4 | 5 | 147883838 | 147883838 | Cockayne syndrome | CG HiSeq X Ten |
| 25903 | 3360 | HTR4 | 5 | 148042844 | 148042844 | Asymptomatic | CG HiSeq X Ten Single cell Sequencing Cell cloning |
| 34386 | 3360 | HTR4 | 5 | 147858961 | 147858961 | Asymptomatic | CG HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing |