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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HTR4 Gene

protein-coding   GIFtS: 70
GCID: GC05M147810

5-Hydroxytryptamine (Serotonin) Receptor 4, G Protein-Coupled

(Previous name: 5-hydroxytryptamine (serotonin) receptor 4)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
5-Hydroxytryptamine (Serotonin) Receptor 4, G Protein-Coupled1 2     5-Hydroxytryptamine Receptor 42
5-HT42 3     Cardiac 5-HT4 Receptor2
5-Hydroxytryptamine (Serotonin) Receptor 41     5-HT-43
5-HT4R2     Serotonin Receptor 43

External Ids:    HGNC: 52991   Entrez Gene: 33602   Ensembl: ENSG000001642707   OMIM: 6021645   UniProtKB: Q136393   

Export aliases for HTR4 gene to outside databases

Previous GC identifers: GC05M147904 GC05M148425 GC05M147859 GC05M142977


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (serotonin) receptor 4, G protein-coupled) is a protein-coding gene. Diseases associated with HTR4 include hereditary diffuse leukoencephalopathy with spheroids, and constipation, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Monoamine GPCRs. GO annotations related to this gene include serotonin receptor activity. An important paralog of this gene is HTR6.

UniProtKB/Swiss-Prot: 5HT4R_HUMAN, Q13639
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

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.
The human 5-HT4 receptor gene has been localized to chromosome 5 (5q31-33).

Gene Wiki entry for HTR4 (5-HT4 receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_029289.11  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HTR4 gene promoter:
         Pax-5   Egr-1   CUTL1   HNF-3beta   RORalpha2   Roaz   C/EBPalpha   AREB6   MEF-2A   S8   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHTR4 promoter sequence
   Search SABiosciences Chromatin IP Primers for HTR4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HTR4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31-q33   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q31-q33

HTR4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HTR4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M147810:  view genomic region     (about GC identifiers)

Start:
147,830,595 bp from pter      End:
148,056,798 bp from pter
Size:
226,204 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 5HT4R_HUMAN, Q13639 (See protein sequence)
Recommended Name: 5-hydroxytryptamine receptor 4  
Size: 388 amino acids; 43761 Da
Subunit: Isoform 5-HT4(A) interacts with MAGI2, MPP3, SLC9A3R1 and SNX27 isoforms 1 and 2. Isoform 5-HT4(E)
interacts with INADL, 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)
Subcellular location: 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 (By similarity)
Secondary accessions: Q546Q1 Q684M0 Q712M9 Q96KH9 Q96KI0 Q9H199 Q9NY73 Q9UBM6 Q9UBT4 Q9UE22
Q9UE23 Q9UQR6
Alternative splicing: 8 isoforms:  Q13639-1   Q13639-2   Q13639-3   Q13639-4   Q13639-5   Q13639-6   Q13639-7   Q13639-8   
(Expressed in all cardiovascular tissues analyzed)

Explore the universe of human proteins at neXtProt for HTR4: NX_Q13639

Explore proteomics data for HTR4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13639

  • HTR4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HTR4 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000861.1  NP_001035259.1  NP_001035262.2  NP_001035263.1  NP_955525.1  

    ENSEMBL proteins: 
     ENSP00000428320   ENSP00000430874   ENSP00000430979   ENSP00000435904   ENSP00000427913  
     ENSP00000367120   ENSP00000353915   ENSP00000430451   ENSP00000429634   ENSP00000346156  
     ENSP00000314906   ENSP00000355037  
    Reactome Protein details: Q13639
    Human Recombinant Protein Products for HTR4: 
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    OriGene Protein Over-expression Lysate for HTR4
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    Novus Biologicals HTR4 Proteins
    Novus Biologicals HTR4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HTR4 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15925089
    GO:0005768endosome IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016020membrane IDA16102731

    HTR4 for ontologies           About GeneDecksing



    HTR4 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HTR: 5-HT (serotonin) receptors
    HTRGP: GPCR / Class A : 5-HT (serotonin) receptors, GPCR only

    IUPHAR Guide to PHARMACOLOGY protein family classification: 5-HT4 receptor 
    5-Hydroxytryptamine receptors

    3 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001520 5HT4_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry Q13639

    ProtoNet protein and cluster: Q13639

    2 Blocks protein domains:
    IPB001520 5-hydroxytryptamine 4 receptor signature
    IPB002233 Adrenergic receptor signature


    UniProtKB/Swiss-Prot: 5HT4R_HUMAN, Q13639
    Similarity: Belongs to the G-protein coupled receptor 1 family


    HTR4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 5HT4R_HUMAN, Q13639
    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 entry for HTR4:
    5-hydroxytryptamine (serotonin) receptor,subtype 4A,and three splice variants 4B,4C,4D,G protein coupled receptor
    superfamily,activating adenylate cyclase

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004683calmodulin-dependent protein kinase activity ----
    GO:0004930G-protein coupled receptor activity ----
    GO:0004993serotonin receptor activity IDA16102731
         
    HTR4 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Htr4):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system 

    HTR4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Htr4tm1Comp for HTR4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HTR4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HTR4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HTR4 
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    miRNA
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    hsa-miR-548j hsa-let-7d hsa-miR-631 hsa-miR-15a hsa-miR-503 hsa-let-7g hsa-miR-424 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): HTR4 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): HTR4 (NM_199453)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTR4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HTR4 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.41
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.37
    2Monoamine GPCRs
    Monoamine GPCRs0.79
    Serotonin receptors0.36
    Amine ligand-binding receptors0.79
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics0.33
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    4Development Ligand-independent activation of ESR1 and ESR2
    Transcription CREB pathway0.93
    Development Ligand-independent activation of ESR1 and ESR20.34
    5CREB Pathway
    Intracellular Calcium Signaling0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for HTR4
        Transcription CREB pathway
    Development Ligand-independent activation of ESR1 and ESR2

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HTR4
        Intracellular Calcium Signaling

    2 GeneGo (Thomson Reuters) Pathways for HTR4
        Development Ligand-independent activation of ESR1 and ESR2
    Transcription CREB pathway

    3 BioSystems Pathways for HTR4
        Serotonin Receptor 4/6/7 and NR3C Signaling
    GPCRs, Class A Rhodopsin-like
    Monoamine GPCRs


    5/8        Reactome Pathways for HTR4 (see all 8)
        GPCR downstream signaling
    Signaling by GPCR
    GPCR ligand binding
    Class A/1 (Rhodopsin-like receptors)
    Serotonin receptors

    1 PharmGKB Pathway for HTR4
        Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for HTR4):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Serotonergic synapse


    HTR4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HTR4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/66 Interacting proteins for HTR4 (Q136392, 3 ENSP000003539154) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRB2P075502, 3, ENSP000003053724MINT-60083 I2D: score=1 STRING: ENSP00000305372
    HTR4Q136392MINT-60079 MINT-60081 MINT-60077 MINT-60082 MINT-60078 MINT-60080
    ADCY1ENSP000002973234STRING: ENSP00000297323
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADRB1ENSP000003583014STRING: ENSP00000358301
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway TAS9351641
    GO:0007187G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS9603189
    GO:0007210serotonin receptor signaling pathway TAS9603189
    GO:0007268synaptic transmission IEA--
    GO:0008284positive regulation of cell proliferation IMP15925089

    HTR4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HTR4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for HTR4 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    RS 39604 hydrochloride5-HT4 antagonist[167710-87-4]
    RS 67333 hydrochloride5-HT4 partial agonist[168986-60-5]
    BIMU 8Potent 5-HT4 receptor full agonist[134296-40-5]
    GR 125487 sulfamate Potent, selective 5-HT4 antagonist. Active in vivo [144625-67-2]
    GR 113808 Potent, selective 5-HT4 antagonist [144625-51-4]

    1 HMDB Compound for HTR4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Serotonin3-(2-Aminoethyl)-1H-indol-5-ol (see all 14)50-67-9--

    5 DrugBank Compounds for HTR4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cisapride-- 81098-60-4targetagonist11034583 10027842 10328995 11752352 11218067 10556228
    TegaserodSDZ HTF 919 (see all 2)189188-57-6targetantagonist partial agonist15645012 11876686 12150698 11207504 11752352 15466450
    Cinitapride-- 66564-14-5targetagonist9562338 9211565
    MetoclopramideMetaclopramide (see all 9)364-62-5targetagonist18948374
    Ondansetron-- 99614-02-5targetagonist2164935

    10/28 IUPHAR Ligands for HTR4 (5-HT4 receptor) (see all 28)    About this table 
    LigandTypeActionAffinityPubmed IDs
    RS 100235
    AntagonistAntagonist8.7 - 12.29351641 15351779
    GR 125487
    AntagonistAntagonist9.8 - 10.79351641 9349523
    piboserod
    AntagonistAntagonist8.8 - 10.49351641 15466450 11504648
    SB 204070
    AntagonistAntagonist9.8 - 10.410646498 11030734 9349523 10683202
    SB 207710
    AntagonistAntagonist10.1 - 10.311218067
    GR 113808
    AntagonistAntagonist9.3 - 10.39349523 11218067 15351779 9351641 10646498 11030734 9603189
    ML 10375
    AntagonistAntagonist8.8 - 1015466450 10683202 9603189 10821780 11030734
    [3H]GR 113808
    AntagonistAntagonist10.3 - 9.710646498 9349523 11218067 10821780
    RS 116 2617
    AntagonistInverse agonist9.611976337
    SL65.0155
    AgonistPartial agonist9.212130738

    10/28 Novoseek inferred chemical compound relationships for HTR4 gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tegaserod 92.5 27 16817836 (3), 12358251 (2), 11743242 (1), 12946544 (1) (see all 20)
    gr 113808 86.7 4 19615378 (1), 15007537 (1), 7965722 (1), 15950987 (1)
    renzapride 86.4 5 1600046 (1), 1330164 (1), 18922103 (1), 16696817 (1)
    cisapride 86 10 9506010 (2), 7949460 (1), 10780971 (1), 14501621 (1) (see all 8)
    mosapride 83.4 8 16153398 (2), 16173472 (2), 14501621 (1), 19889470 (1) (see all 6)
    5-hydroxytryptamine 83.2 52 9862758 (3), 10543288 (2), 8959736 (2), 12358251 (2) (see all 27)
    tropisetron 81.6 7 10543288 (1), 9826103 (1), 1600046 (1), 1330164 (1) (see all 5)
    5-methoxytryptamine 80.8 4 10543288 (1), 7599849 (1), 12580024 (1), 16702620 (1)
    methiothepin 79.4 3 7599849 (1), 1330164 (1), 16702620 (1)
    2-methyl-5-ht 72.5 1 10543288 (1)

    Search CenterWatch for drugs/clinical trials and news about HTR4 / 5HT4R

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HTR4 gene (6 alternative transcripts): 
    NM_000870.5  NM_001040169.2  NM_001040172.2  NM_001040173.2  NM_199453.3  NM_001040174.1  

    Unigene Cluster for HTR4:

    5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
    Hs.483773  [show with all ESTs]
    Unigene Representative Sequence: AJ131724
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521530 ENST00000522588 ENST00000521735 ENST00000517929(uc021yfi.1)
    ENST00000520514(uc011dby.1) ENST00000377888 ENST00000360693(uc021yfj.1)
    ENST00000524063 ENST00000521124(uc021yfk.1) ENST00000519495 ENST00000520086(uc003lpq.1)
    ENST00000354217(uc021yfh.1) ENST00000314512(uc021yfg.1 uc010jgu.1)
    ENST00000362016(uc003lpn.3 uc010jgv.3)

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HTR4
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    Additional mRNA sequence: 

    AJ011371.1 AJ131724.1 AJ131725.1 AJ131726.1 AJ278979.1 AJ278980.1 AJ278981.1 AJ278982.1 
    AJ519673.1 AJ633645.1 AK095223.1 AK308471.1 AM712912.1 BC074755.2 BC095497.1 Y08756.1 
    Y09586.1 Y10437.1 Y12505.1 Y12506.1 Y12507.1 Y13584.1 Z48150.1 

    10 DOTS entries:

    DT.40234835  DT.108819  DT.91661182  DT.102830595  DT.99937173  DT.120832090  DT.95149585  DT.101972406 
    DT.91661178  DT.95332349 

    24/113 AceView cDNA sequences (see all 113):

    CR608321 BC074755 Y09586 CR595950 AY341075 AK124854 NM_024577 AJ131726 
    BI054444 BX283793 AJ131725 AK095223 AJ519673 Y10437 Y13584 BE302852 
    AJ633645 NM_199453 AJ278979 AI033298 AJ278980 BQ213149 BX386178 CB141690 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for HTR4 (see all 9)    About this scheme

    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:                                -                             -     -     -                                       


    ECgene alternative splicing isoforms for HTR4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HTR4 expression in normal human tissues (normalized intensities)      HTR4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGCCTGC
    HTR4 Expression
    About this image


    HTR4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 25 entries
             Thalamus
             Substantia Nigra   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Superior Cervical Ganglion   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             esophagus ; squamous epithelial cells   

    See HTR4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HTR4

    SOURCE GeneReport for Unigene cluster: Hs.483773

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including HTR4: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HTR4 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Htr41 , 5 5 hydroxytryptamine (serotonin) receptor 41, 5 90.89(n)1
    93.3(a)1
      18 (35.10 cM)5
    155621  NM_008313.41  NP_032339.21 
     623242045 
    chicken
    (Gallus gallus)
    Aves HTR41 5-hydroxytryptamine (serotonin) receptor 4 83(n)
    89.8(a)
      416150  XM_414481.3  XP_414481.3 
    lizard
    (Anolis carolinensis)
    Reptilia HTR46
    5-hydroxytryptamine (serotonin) receptor 4, G prot...
    85(a)
    1 ↔ 1
    2(121764217-122004739)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5590891 5-hydroxytryptamine receptor 4-like 64.96(n)
    68.38(a)
      559089  XM_682395.1  XP_687487.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69193
    oa21
    G-protein coupled receptor protein
    signaling pathway more3
    octopamine receptor 21
    42(a)
    (best of 3)3
    53.31(n)1
    46.69(a)1
      94B23
    426521  NM_001170219.11  NP_001163690.11 


    ENSEMBL Gene Tree for HTR4 (if available)
    TreeFam Gene Tree for HTR4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HTR4 gene
    HTR62  TAAR22  TAAR92  TAAR82  HRH22  ADRA1A2  TAAR52  TAAR62  
    ADRB12  ADRA1B2  DRD12  TAAR12  ADRB22  ADRB32  DRD52  ADRA1D2  
    18/29 SIMAP similar genes for HTR4 using alignment to 4 protein entries:     5HT4R_HUMAN (see all proteins) (see all similar genes):
    HTR4B    ADORA2A    HTR2B    DRD2    GHSR    HRH2
    TAAR1    ADRB2    TAAR2    TAAR3    TAAR5    DRD5P1
    TAAR9    hA2aR    TAAR6    DRD1    DRD5    GPR85

    HTR4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4166 SNPs in HTR4 are shown (see all 4166)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998897461,2
    Cuntested1148165185(+) ACTTCC/TTCTTT 10 K R mis10--------
    VAR_0674124
    ----see VAR_0674122 S L mis40--------
    rs607080691,2
    --142984608(+) TTTAAG/TATCTA 2 -- int10--------
    rs39577801,2
    C--142984644(+) attttA/Catatc 2 -- int10--------
    rs1130286351,2
    F--142984646(+) TTTAAG/TATCTA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1379776331,2
    C--143004824(+) AGAAA-/GAGGAC 3 -- int10--------
    rs715839771,2
    C--143010486(+) TTATT-/ATTTAT
    TT
    /TATTT
    GAGCC
    5 -- int11NA 2
    rs1139927281,2
    C--143034084(+) TCTTC-/AAAAAA 5 -- int11Minor allele frequency- A:0.00CSA 2
    rs1394371601,2
    C--143114566(+) TTAAT-/C/TC  
            
    TTTTT
    5 -- int10--------
    rs1500069771,2
    C--143116439(+) TCAAG-/TGATTC 5 -- int10--------

    HapMap Linkage Disequilibrium report for HTR4 (147830595 - 148056798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HTR4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv270273CNV Insertion20981092
    nsv523792CNV Loss19592680
    nsv830516CNV Loss17160897
    nsv328933CNV Loss16902084

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602164    OMIM disorders: --

    20/31 diseases for HTR4 (see all 31):    About MalaCards
    hereditary diffuse leukoencephalopathy with spheroids    constipation    dyspepsia    irritable bowel syndrome
    obstructive lung disease    congenital heart block    adrenal adenoma    hyperaldosteronism
    gastroparesis    ileus    chronic fatigue syndrome    cushing's syndrome
    attention deficit hyperactivity disorder    obesity, association with    diarrhea    duodenitis
    colon adenocarcinoma    schizophrenia    bipolar disorder    cytochrome p450

    4 diseases from the University of Copenhagen DISEASES database for HTR4:
    Constipation     Gastroparesis     Functional colonic disease     Irritable bowel syndrome

    HTR4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred disease relationships for HTR4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    functional dyspepsia 61.9 2 17439064 (1), 16827813 (1)
    gastrointestinal diseases 46.7 2 18415081 (1), 20197377 (1)
    motility disorder 34.2 1 12358251 (1)
    reflux 30.7 3 14501621 (1), 11929392 (1)
    schizophrenia 7.87 5 12898568 (3), 12399948 (1), 20197377 (1)
    atrial fibrillation 5.94 1 11215536 (1)
    tumors 0.624 2 12530699 (1), 15326569 (1)
    genetic susceptibility 0 2 12898568 (1), 17572793 (1)

    Genetic Association Database (GAD): HTR4
    Human Genome Epidemiology (HuGE) Navigator: HTR4 (17 documents)

    Export disorders for HTR4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HTR4 gene, integrated from 9 sources (see all 241):
    (articles sorted by number of sources associating them with HTR4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of a haplotype in the serotonin 5-HT4 receptor gene (HTR4) with Japanese schizophrenia. (PubMed id 12898568)1, 4, 9 Suzuki T....Ozaki N. (2003)
    2. Association between serotonin 4 receptor gene polymorphisms and bipolar disorder in Japanese case-control samples and the NIMH Genetics Initiative Bipolar Pedigrees. (PubMed id 12399948)1, 4, 9 Ohtsuki T....Arinami T. (2002)
    3. Cloning, expression, and pharmacology of four human 5- hydroxytryptamine 4 receptor isoforms produced by alternative splicing in the carboxyl terminus. (PubMed id 9603189)1, 2, 9 Blondel O.... Fischmeister R. (1998)
    4. Expression of serotonin receptor mRNAs in blood vessels. (PubMed id 7656980)1, 2, 9 Ullmer C.... Luebbert H. (1995)
    5. Association study of the serotoninergic system in mig raine in the Spanish population. (PubMed id 19455600)1, 4 Corominas R....Cormand B. (2010)
    6. Meta-analyses of genome-wide association studies iden tify multiple loci associated with pulmonary function. (PubMed id 20010835)1, 4 Hancock D.B....London S.J. (2010)
    7. Genome-wide association study identifies five loci as sociated with lung function. (PubMed id 20010834)1, 4 Repapi E....Rudnicka A.R. (2010)
    8. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. (PubMed id 19352218)1, 4 Elia J....Hakonarson H. (2009)
    9. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (2009)
    10. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3360 HGNC: 5299 AceView: HTR4andKIAA1985 Ensembl:ENSG00000164270 euGenes: HUgn3360
    ECgene: HTR4 Kegg: 3360 H-InvDB: HTR4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HTR4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HTR4 gene:
    Search GeneIP for patents involving HTR4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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