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HTR4 Gene(Protein Coding)

5-Hydroxytryptamine Receptor 4

GCID:
GC05M148451
GIFtS:
51
Genes Participants
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Aliases for HTR4 Gene

Aliases for HTR4 Gene

  • 5-Hydroxytryptamine Receptor 4 2 3 3 5
  • 5-Hydroxytryptamine (Serotonin) Receptor 4, G Protein-Coupled 2 3
  • 5-HT4 3 4
  • 5-Hydroxytryptamine Receptor 4 Transcript Variant B2 3
  • 5-Hydroxytryptamine Receptor 4 Transcript Variant B3 3
  • 5-Hydroxytryptamine (Serotonin) Receptor 4 2
  • Cardiac 5-HT4 Receptor 3
  • Serotonin Receptor 4 4
  • 5-HT4R 3
  • 5-HT-4 4

External Ids for HTR4 Gene

Previous GeneCards Identifiers for HTR4 Gene

  • GC05M147904
  • GC05M148425
  • GC05M147859
  • GC05M147810
  • GC05M142977

Summaries for HTR4 Gene

Entrez Gene Summary for HTR4 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 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]

GeneCards Summary for HTR4 Gene

HTR4 (5-Hydroxytryptamine Receptor 4) is a Protein Coding gene. Diseases associated with HTR4 include Irritable Bowel Syndrome and Constipation. Among its related pathways are Monoamine GPCRs and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and trace-amine receptor activity. An important paralog of this gene is TAAR1.

UniProtKB/Swiss-Prot for HTR4 Gene

  • This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase.

Tocris Summary for HTR4 Gene

  • Serotonin 5-HT4 receptors are located primarily in nigrostriatal and mesolimbic systems and smooth muscle. The receptor plays a role in memory and learning, anxiety, visual perception and smooth muscle relaxation.

Gene Wiki entry for HTR4 Gene

Additional gene information for HTR4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HTR4 Gene

Genomics for HTR4 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for HTR4 Gene

Promoters and enhancers for HTR4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J148655 Promoter 0.6 EPDnew 660.7 +22.7 22688 0.1 SPI1 HTR4 GC05P148650 GC05P148649 GC05P148648 GC05M148672
GH05J148654 Promoter 0.5 EPDnew 660.7 +23.1 23050 0.1 HTR4 GC05P148648 GC05P148650 GC05P148649 GC05M148672
GH05J148653 Promoter 0.5 EPDnew 660.7 +23.6 23645 0.1 HTR4 GC05P148648 GC05P148649 GC05P148650 GC05M148672
GH05J148659 Enhancer 0.8 ENCODE 0.4 +17.0 17017 2.2 HDAC1 MEIS2 LEF1 PKNOX1 TEAD4 TAL1 TCF12 CTBP1 FOXK2 ARID2 GC05P148648 GC05P148650 GC05P148649 GC05M148672 HTR4
GH05J148639 Enhancer 0.9 ENCODE 0.3 +37.9 37916 0.5 PKNOX1 SMAD1 ARNT NCOA2 TCF12 GATA2 ATF7 NCOA1 MBD2 MEF2D GC05P148643 GC05P148622 HTR4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HTR4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HTR4 gene promoter:

Genomic Locations for HTR4 Gene

Genomic Locations for HTR4 Gene
chr5:148,451,032-148,677,235
(GRCh38/hg38)
Size:
226,204 bases
Orientation:
Minus strand
chr5:147,830,595-148,056,798
(GRCh37/hg19)

Genomic View for HTR4 Gene

Genes around HTR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HTR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HTR4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HTR4 Gene

Proteins for HTR4 Gene

Products:

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  2. Protein
  3. Assay

  • Protein details for HTR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13639-5HT4R_HUMAN
    Recommended name:
    5-hydroxytryptamine receptor 4
    Protein Accession:
    Q13639
    Secondary Accessions:
    • C4WYH4
    • Q546Q1
    • Q684M0
    • Q712M9
    • Q96KH9
    • Q96KI0
    • Q9H199
    • Q9NY73
    • Q9UBM6
    • Q9UBT4
    • Q9UE22
    • Q9UE23
    • Q9UQR6

    Protein attributes for HTR4 Gene

    Size:
    388 amino acids
    Molecular mass:
    43761 Da
    Quaternary structure:
    • Isoform 5-HT4(A) interacts with MAGI2, MPP3, SLC9A3R1 and SNX27 isoforms 1 and 2. Isoform 5-HT4(E) interacts with PATJ, NOS1 and SEC23A. Isoform 5-HT4(A) forms a complex including SLC9A3R1 and EZR (By similarity). Interacts (via C-terminus 330-346 AA) with GRK5; this interaction is promoted by 5-HT (serotonin).

    Three dimensional structures from OCA and Proteopedia for HTR4 Gene

    Alternative splice isoforms for HTR4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HTR4 Gene

Post-translational modifications for HTR4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HTR4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HTR4 Gene

Domains & Families for HTR4 Gene

Gene Families for HTR4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HTR4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HTR4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13639

UniProtKB/Swiss-Prot:

5HT4R_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with HTR4: view

Function for HTR4 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HTR4 Gene

UniProtKB/Swiss-Prot Function:
This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase.
GENATLAS Biochemistry:
5-hydroxytryptamine (serotonin) receptor,subtype 4A,and three splice variants 4B,4C,4D,G protein coupled receptor superfamily,activating adenylate cyclase

Phenotypes From GWAS Catalog for HTR4 Gene

Gene Ontology (GO) - Molecular Function for HTR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001594 NOT trace-amine receptor activity IBA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004993 G-protein coupled serotonin receptor activity IDA 16102731
GO:0042802 identical protein binding IPI 15896782
genes like me logo Genes that share ontologies with HTR4: view
genes like me logo Genes that share phenotypes with HTR4: view

Animal Models for HTR4 Gene

MGI Knock Outs for HTR4:

Animal Model Products

  • Taconic Biosciences Mouse Models for HTR4

Clone Products

  • Addgene plasmids for HTR4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HTR4 Gene

Localization for HTR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HTR4 Gene

Cell membrane; Multi-pass membrane protein. Endosome. Note=Interaction with SNX27 mediates recruitment to early endosomes, while interaction with SLC9A3R1 and EZR might target the protein to specialized subcellular regions, such as microvilli. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HTR4 gene
Compartment Confidence
plasma membrane 5
endosome 5
extracellular 1

Gene Ontology (GO) - Cellular Components for HTR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15925089
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,TAS --
GO:0016020 membrane IDA 16102731
genes like me logo Genes that share ontologies with HTR4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HTR4 Gene

Pathways & Interactions for HTR4 Gene

genes like me logo Genes that share pathways with HTR4: view

Gene Ontology (GO) - Biological Process for HTR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 9603189
GO:0007214 gamma-aminobutyric acid signaling pathway IBA --
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with HTR4: view

No data available for SIGNOR curated interactions for HTR4 Gene

Drugs & Compounds for HTR4 Gene

Products:

  1. Drug

(128) Drugs for HTR4 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisapride Approved, Investigational, Withdrawn Pharma Partial agonist, Agonist, agonist, Target 5-HT4 agonist; stimulates intestinal ACh release 5
Tegaserod Approved, Investigational, Withdrawn Pharma Antagonist, Partial agonist, Agonist, agonist, Target, antagonist, partial agonist 28
Tropisetron Approved, Investigational Pharma Antagonist, antagonist 23
Prucalopride Approved Pharma Partial agonist, Agonist, Target, agonist 5-HT4A and 5-HT4B receptor agonist 0
Ondansetron Approved Pharma Target, agonist 342

(7) Additional Compounds for HTR4 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-HT
Full agonist, Agonist, Inhibition, Inhibitor
alpha-methyl-5-HT
Full agonist, Agonist

(5) Tocris Compounds for HTR4 Gene

Compound Action Cas Number
2-[1-(4-Piperonyl)piperazinyl]benzothiazole 5-HT4 agonist. Also 5-HT3 antagonist 155106-73-3
Cisapride 5-HT4 agonist; stimulates intestinal ACh release 81098-60-4
Mosapride citrate 5-HT4 agonist and 5-HT3 antagonist 112885-42-4
RS 67333 hydrochloride 5-HT4 partial agonist 168986-60-5
RS 67506 hydrochloride 5-HT4 partial agonist 168986-61-6

(78) ApexBio Compounds for HTR4 Gene

Compound Action Cas Number
(±)-MDMA hydrochloride 92279-84-0
2-Methyl-5-hydroxytryptamine hydrochloride 845861-49-6
Amitriptyline HCl Serotonin /norepinephrine receptor/5-HT4/5-HT2 inhibitor 549-18-8
Asenapine Inhibits adrenergic receptor/5-HT receptor 85650-56-2
Bilobalide Neuroprotective agent 33570-04-6
BIMU 8 Potent 5-HT4 receptor full agonist 134296-40-5
Blonanserin Atypical antipsychotic 132810-10-7
BTS 54-505 hydrochloride Potent SNRI,sibutramine metabolite 84484-78-6
Cisapride 81098-60-4
CJ 033466 519148-48-2
Clomipramine HCl SERT/NET dopamine transporter (DAT) blocker 17321-77-6
Clozapine N-oxide Metabolite of clozapine 34233-69-7
Dapoxetine HCl Selective serotonin reuptake inhibitor 129938-20-1
Desvenlafaxine 93413-62-8
Desvenlafaxine Succinate 386750-22-7
Dexfenfluramine hydrochloride 3239-45-0
Dihydroergotamine mesylate 6190-39-2
DOB hydrochloride 29705-96-2
DOI hydrochloride 42203-78-1
Duloxetine HCl 136434-34-9
Eltoprazine hydrochloride 98206-09-8
Escitalopram Oxalate Serotonin(5-HT) reuptake (SSRI) inhibitor 219861-08-2
Fenspiride HCl 5053-08-7
Fluoxetine HCl Serotonin reuptake inhibitor,selective 56296-78-7
Fluvoxamine maleate Serotonin reuptake inhibitor,selective,antidepressant 61718-82-9
GR 113808 144625-51-4
GR 125487 sulfamate 859502-43-5
GR 46611 185259-85-2
Ketanserin 74050-98-9
Lorcaserin HCl 846589-98-8
LY310762 192927-92-7
m-CPP hydrochloride 13078-15-4
Methysergide maleate 129-49-7
Milnacipran HCl 101152-94-7
ML 10302 hydrochloride 186826-17-5
Mosapride 112885-41-3
Mosapride Citrate 5-HT receptor agonist 112885-42-4
MS 245 oxalate 275363-58-1
NAD 299 hydrochloride 184674-99-5
Naratriptan 143388-64-1
Olanzapine 132539-06-1
Ondansetron 99614-02-5
Palonosetron HCl 135729-62-3
Pizotifen Malate 5189-11-7
Prucalopride Succinat 179474-85-2
Psilocin 520-53-6
Risperidone SR-2A inhibitor 106266-06-2
Rizatriptan Benzoate 145202-66-0
RS 23597-190 hydrochloride 149719-06-2
RS 39604 hydrochloride 167710-87-4
RS 67333 hydrochloride 168986-60-5
RS 67506 hydrochloride 168986-61-6
RU 24969 66611-26-5
Sarpogrelate hydrochloride 135159-51-2
SB 200646 hydrochloride 143797-62-0
SB 203186 hydrochloride 207572-69-8
SB 204070 148688-01-1
SB 242084 1215566-78-1
SB 243213 dihydrochloride 200940-23-4
SB 258719 hydrochloride 1217674-10-6
SB271046 209481-20-9
SDZ 205-557 hydrochloride 1197334-02-3
SEA0400 Specific inhibitor of Na+/Ca2+ exchange 223104-29-8
Sertraline HCl 79559-97-0
Tandospirone Anxiolytic and antidepressant reagent 87760-53-0
Tegaserod maleate 189188-57-6
Tianeptine sodium 5-HT uptake facilitator,selective,antidepressant 30123-17-2
Trazodone HCl Antidepressant 25332-39-2
Tropisetron 105826-92-4
Urapidil HCl 64887-14-5
Venlafaxine Dual serotonin/noradrenalin re-uptake inhibitor 99300-78-4
Vortioxetine 5-HT receptors antagonist 508233-74-7
Vortioxetine (Lu AA21004) HBr 5-HT receptor modulator, antidepressant and anxiolytic 960203-27-4
VUF 10166 155584-74-0
WY 45233 succinate 448904-47-0
Ziprasidone HCl Serotonin and dopamine receptor antagonist 122883-93-6
Ziprasidone hydrochloride monohydrate 5-HT (serotonin)/dopamine receptor antagonist 138982-67-9
Zolmitriptan 139264-17-8
genes like me logo Genes that share compounds with HTR4: view

Drug Products

Transcripts for HTR4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HTR4 Gene

(113) Selected AceView cDNA sequences:
(23) Additional mRNA sequences :
(7) REFSEQ mRNAs :
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HTR4 Gene

5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled:
Representative Sequences:

Clone Products

  • Addgene plasmids for HTR4

Alternative Splicing Database (ASD) splice patterns (SP) for HTR4 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - -
SP3: - - - - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: -
SP9:

Relevant External Links for HTR4 Gene

GeneLoc Exon Structure for
HTR4
ECgene alternative splicing isoforms for
HTR4

Expression for HTR4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HTR4 Gene

mRNA expression in normal human tissues for HTR4 Gene
mRNA expression by GTEx for HTR4 GenemRNA expression by BioGPS for HTR4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HTR4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x8.1), Small Intestine - Terminal Ileum (x6.1), Brain - Caudate (basal ganglia) (x5.8), Colon - Transverse (x5.3), and Brain - Putamen (basal ganglia) (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of HTR4 Gene:

HTR4

SOURCE GeneReport for Unigene cluster for HTR4 Gene:

Hs.483773

mRNA Expression by UniProt/SwissProt for HTR4 Gene:

Q13639-5HT4R_HUMAN
Tissue specificity: Isoform 5-HT4(A) is expressed in ileum, brain, and atrium, but not in the ventricle.

Evidence on tissue expression from TISSUES for HTR4 Gene

  • Intestine(4.6)
  • Nervous system(4.6)
  • Heart(4.4)
  • Stomach(2.6)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with HTR4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HTR4 Gene

Orthologs for HTR4 Gene

This gene was present in the common ancestor of animals.

Orthologs for HTR4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HTR4 34 33
  • 99.61 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia HTR4 34 33
  • 93.73 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia HTR4 34 33
  • 93.63 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HTR4 34
  • 91 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Htr4 16 34 33
  • 90.89 (n)
rat
(Rattus norvegicus)
 Mammalia Htr4 33
  • 90.56 (n)
oppossum
(Monodelphis domestica)
 Mammalia HTR4 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HTR4 34 33
  • 82.6 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HTR4 34
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100493952 33
  • 74.52 (n)
zebrafish
(Danio rerio)
 Actinopterygii HTR4 34
  • 73 (a)
 OneToOne
LOC556843 33
  • 71.86 (n)
fruit fly
(Drosophila melanogaster)
 Insecta oa2 34 33
  • 54.34 (n)
 ManyToMany
CG6919 35
  • 42 (a)
CG6989 35
  • 36 (a)
DopR 35
  • 35 (a)
Octbeta2R 34
  • 26 (a)
 ManyToMany
Species where no ortholog for HTR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HTR4 Gene

ENSEMBL:
Gene Tree for HTR4 (if available)
TreeFam:
Gene Tree for HTR4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HTR4: view image

Paralogs for HTR4 Gene

Paralogs for HTR4 Gene

(29) SIMAP similar genes for HTR4 Gene using alignment to 3 proteins:

  • 5HT4R_HUMAN
  • E5RHV8_HUMAN
  • E5RK45_HUMAN
genes like me logo Genes that share paralogs with HTR4: view

Variants for HTR4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for HTR4 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000000263 -- 148,481,530(-) A/G coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs1000004399 -- 148,452,819(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000011599 -- 148,492,384(-) T/A intron_variant
rs1000079867 -- 148,622,477(-) T/C intron_variant
rs1000084690 -- 148,483,848(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HTR4 Gene

Variant ID Type Subtype PubMed ID
esv3305996 CNV mobile element insertion 20981092
esv3406555 CNV insertion 20981092
esv3607115 CNV loss 21293372
esv3607116 CNV loss 21293372
esv3607118 CNV loss 21293372
esv3607119 CNV loss 21293372
nsv1152791 CNV duplication 26484159
nsv328933 CNV deletion 16902084
nsv523792 CNV loss 19592680
nsv830516 CNV loss 17160897

Variation tolerance for HTR4 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HTR4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HTR4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HTR4 Gene

Disorders for HTR4 Gene

MalaCards: The human disease database

(11) MalaCards diseases for HTR4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
irritable bowel syndrome
  • ibd
constipation
gastrointestinal system disease
  • alimentary system disease
colonic pseudo-obstruction
  • primary chronic pseudo-obstruction of colon
pylorospasm
- elite association - COSMIC cancer census association via MalaCards
Search HTR4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HTR4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HTR4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HTR4 Gene

Publications for HTR4 Gene

  1. Association of a haplotype in the serotonin 5-HT4 receptor gene (HTR4) with Japanese schizophrenia. (PMID: 12898568) Suzuki T … Ozaki N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003) 3 22 44 58
  2. Cloning, expression, and pharmacology of four human 5-hydroxytryptamine 4 receptor isoforms produced by alternative splicing in the carboxyl terminus. (PMID: 9603189) Blondel O … Fischmeister R (Journal of neurochemistry 1998) 3 4 22 58
  3. Expression of serotonin receptor mRNAs in blood vessels. (PMID: 7656980) Ullmer C … Lübbert H (FEBS letters 1995) 3 4 22 58
  4. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock DB … London SJ (Nature genetics 2010) 3 44 58
  5. Association study of the serotoninergic system in migraine in the Spanish population. (PMID: 19455600) Corominas R … Cormand B (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58

Products for HTR4 Gene

  • Addgene plasmids for HTR4

Sources for HTR4 Gene

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