Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3360
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
5-hydroxytryptamine receptor 4 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
HTR4 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
5-HT4, 5-HT4R |
Chromosome
Chromosome number
|
5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q32 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 bot |
UniProt ID |
Q13639
|
Protein name |
5-hydroxytryptamine receptor 4 (5-HT-4) (5-HT4) (Serotonin receptor 4) |
Protein function |
G-protein coupled receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone and a mitogen (PubMed:10821780, PubMed:16102731, PubMed:35714614, PubMed:9603189). Ligand binding causes a conform |
PDB |
5EM9
,
7XT8
,
7XT9
,
7XTA
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00001
|
7tm_1 |
36 → 312 |
7 transmembrane receptor (rhodopsin family) |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: [Isoform 5-HT4(A)]: Expressed in ileum, brain, and atrium, but not in the ventricle. {ECO:0000269|PubMed:15118808}.; TISSUE SPECIFICITY: [Isoform 5-HT4(E)]: Mainly expressed in atria and cardiac ventricle. {ECO:0000269|PubMed:15118808} |
Sequence |
|
Sequence length |
388 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
7886817 |
Congenital adrenal hyperplasia |
Congenital adrenal hyperplasia |
rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098 View all (55 more) |
17218722 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
12898568, 22842674, 19892407, 12399948 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
30940143, 28166215, 30804561 |
ClinVar |
Mental depression |
Mental Depression, Depressive disorder |
|
20060867, 25522384, 19476548, 20962330 |
ClinVar |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
7886817 |
ClinVar |
Colorectal Cancer |
Colorectal Cancer |
In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. |
|
GWAS, CBGDA |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Pelvic Organ Prolapse |
Pelvic Organ Prolapse |
|
|
GWAS |
Hypertension |
Hypertension |
|
|
GWAS |
Pancreatitis |
Pancreatitis |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
Insomnia |
Insomnia |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acth Independent Macronodular Adrenal Hyperplasia |
Associate
|
32267363 |
Anxiety |
Associate
|
31977880 |
Autism Spectrum Disorder |
Associate
|
31977880 |
Bipolar Disorder |
Associate
|
20197377 |
Coronary Artery Disease |
Associate
|
35151267 |
Depressive Disorder |
Associate
|
31977880 |
Gastrointestinal Diseases |
Associate
|
20197377 |
Glioblastoma |
Associate
|
24358143 |
Hidradenitis Suppurativa |
Associate
|
39940809 |
Irritable Bowel Syndrome |
Associate
|
29089619 |
Lung Diseases |
Associate
|
20010835 |
Lung Injury |
Associate
|
21965014 |
Obesity |
Associate
|
34872017 |
Pigmented Nodular Adrenocortical Disease Primary 1 |
Associate
|
27699247, 31074783 |
Prostatic Neoplasms |
Associate
|
34512870 |
Pulmonary Disease Chronic Obstructive |
Associate
|
21965014, 23890215, 34233669 |
Respiratory Tract Diseases |
Associate
|
20010834 |
Schizophrenia |
Associate
|
20197377 |
|