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HTR2B Gene(Protein Coding)

5-Hydroxytryptamine Receptor 2B

GCID:
GC02M231108
GIFtS:
52
Genes Participants
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Aliases for HTR2B Gene

Aliases for HTR2B Gene

  • 5-Hydroxytryptamine Receptor 2B 2 3 5
  • 5-Hydroxytryptamine (Serotonin) Receptor 2B, G Protein-Coupled 2 3
  • Serotonin Receptor 2B 3 4
  • 5-HT-2B 3 4
  • 5-HT2B 3 4
  • 5-Hydroxytryptamine (Serotonin) Receptor 2B 2
  • 5-Hydroxytryptamine Receptor 2B Variant B 3
  • 5-Hydroxytryptamine 2B Receptor 3
  • 5-HT 2B Receptor 3
  • 5-HT(2B) 3

External Ids for HTR2B Gene

Previous GeneCards Identifiers for HTR2B Gene

  • GC02M230030
  • GC02M230704
  • GC02M231936
  • GC02M232175
  • GC02M231798
  • GC02M231681
  • GC02M223815

Summaries for HTR2B Gene

Entrez Gene Summary for HTR2B Gene

  • This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

GeneCards Summary for HTR2B Gene

HTR2B (5-Hydroxytryptamine Receptor 2B) is a Protein Coding gene. Diseases associated with HTR2B include Ocular Hypotension and Heart Valve Disease. Among its related pathways are Monoamine GPCRs and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and drug binding. An important paralog of this gene is HTR2A.

UniProtKB/Swiss-Prot for HTR2B Gene

  • G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519210). Also functions as a receptor for various ergot alkaloid derivatives and psychoactive substances (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:12970106, PubMed:18703043, PubMed:23519210, PubMed:23519215, PubMed:24357322, PubMed:28129538). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:23519215, PubMed:28129538). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:23519215, PubMed:28129538). Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519215, PubMed:28129538). Plays a role in the regulation of dopamine and 5-hydroxytryptamine release, 5-hydroxytryptamine uptake and in the regulation of extracellular dopamine and 5-hydroxytryptamine levels, and thereby affects neural activity. May play a role in the perception of pain (By similarity). Plays a role in the regulation of behavior, including impulsive behavior (PubMed:21179162). Required for normal proliferation of embryonic cardiac myocytes and normal heart development. Protects cardiomyocytes against apoptosis. Plays a role in the adaptation of pulmonary arteries to chronic hypoxia. Plays a role in vasoconstriction. Required for normal osteoblast function and proliferation, and for maintaining normal bone density. Required for normal proliferation of the interstitial cells of Cajal in the intestine (By similarity).

Tocris Summary for HTR2B Gene

  • Serotonin 5-HT2B receptors, previously known as 5-HT2F receptors, are located primarily in the stomach fundus, uterus, vascular endothelial and vascular and GI smooth muscle, with limited distribution in the brain. 5-HT2B overexpression leads to ventricular hypertrophy.

Gene Wiki entry for HTR2B Gene

Additional gene information for HTR2B Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HTR2B Gene

Genomics for HTR2B Gene

Products:

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GeneHancer (GH) Regulatory Elements for HTR2B Gene

Promoters and enhancers for HTR2B 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
GH02I231123 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 556.1 +1.3 1330 2.4 ELF3 SOX13 FOXA2 ZNF449 MAX RELA RCOR1 ZNF600 HOMEZ IKZF2 HTR2B PSMD1
GH02I231056 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 48.4 +67.5 67451 4.6 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B PSMD1 HTR2B C2orf72 RPL28P2 DIS3L2 COPS7B NCL SPATA3 SPATA3-AS1 LOC101928816
GH02I231179 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 40.9 -55.7 -55673 3.5 PKNOX1 ATF7 FOS RUNX3 RXRA NFYC JUNB ZNF592 KAT8 NFIL3 HTR2B C2orf72 ARMC9 RNU1-93P
GH02I231168 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 51.9 -44.0 -43979 3.2 POLR2A JUN RCOR1 EBF1 MYC CHD2 HTR2B ARMC9 SNORA75 SNORD20 RNU1-93P PSMD1
GH02I231189 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 41 -65.7 -65696 3.9 CTCF PKNOX1 SAP130 ARID4B CEBPG DMAP1 ZNF48 ZSCAN9 RAD21 ZNF335 HTR2B ARMC9 ENSG00000233538 SNORA75 SNORD20 RNU2-22P RNU1-93P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HTR2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HTR2B gene promoter:

Genomic Locations for HTR2B Gene

Genomic Locations for HTR2B Gene
chr2:231,108,230-231,125,778
(GRCh38/hg38)
Size:
17,549 bases
Orientation:
Minus strand
chr2:231,972,944-231,989,832
(GRCh37/hg19)

Genomic View for HTR2B Gene

Genes around HTR2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HTR2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HTR2B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HTR2B Gene

Proteins for HTR2B Gene

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  • Protein details for HTR2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41595-5HT2B_HUMAN
    Recommended name:
    5-hydroxytryptamine receptor 2B
    Protein Accession:
    P41595
    Secondary Accessions:
    • B2R9D5
    • Q53TI1
    • Q62221
    • Q6P523

    Protein attributes for HTR2B Gene

    Size:
    481 amino acids
    Molecular mass:
    54298 Da
    Quaternary structure:
    • Interacts (via C-terminus) with MPDZ.
    Miscellaneous:
    • Binds lysergic acid diethylamine (LSD) in the orthosteric pocket, but is not the principal LSD receptor in the brain. Bound LSD dissociates extremely slowly, with a residence time of about 46 minutes at 37 degrees Celsius.

    Three dimensional structures from OCA and Proteopedia for HTR2B Gene

neXtProt entry for HTR2B Gene

Post-translational modifications for HTR2B Gene

Other Protein References for HTR2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HTR2B Gene

Domains & Families for HTR2B Gene

Gene Families for HTR2B Gene

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

Protein Domains for HTR2B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HTR2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41595

UniProtKB/Swiss-Prot:

5HT2B_HUMAN :
  • Ligands are bound in a hydrophobic pocket formed by the transmembrane helices.
  • Belongs to the G-protein coupled receptor 1 family.
Domain:
  • Ligands are bound in a hydrophobic pocket formed by the transmembrane helices.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with HTR2B: view

Function for HTR2B Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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Molecular function for HTR2B Gene

GENATLAS Biochemistry:
5-hydroxytryptamine (serotonin) receptor,subtype 2B,G protein coupled receptor superfamily,activating the phosphatidylinositol cycle
UniProtKB/Swiss-Prot Function:
G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519210). Also functions as a receptor for various ergot alkaloid derivatives and psychoactive substances (PubMed:8143856, PubMed:7926008, PubMed:8078486, PubMed:12970106, PubMed:18703043, PubMed:23519210, PubMed:23519215, PubMed:24357322, PubMed:28129538). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:23519215, PubMed:28129538). Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways (PubMed:23519215, PubMed:28129538). Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores (PubMed:8143856, PubMed:8078486, PubMed:8882600, PubMed:18703043, PubMed:23519215, PubMed:28129538). Plays a role in the regulation of dopamine and 5-hydroxytryptamine release, 5-hydroxytryptamine uptake and in the regulation of extracellular dopamine and 5-hydroxytryptamine levels, and thereby affects neural activity. May play a role in the perception of pain (By similarity). Plays a role in the regulation of behavior, including impulsive behavior (PubMed:21179162). Required for normal proliferation of embryonic cardiac myocytes and normal heart development. Protects cardiomyocytes against apoptosis. Plays a role in the adaptation of pulmonary arteries to chronic hypoxia. Plays a role in vasoconstriction. Required for normal osteoblast function and proliferation, and for maintaining normal bone density. Required for normal proliferation of the interstitial cells of Cajal in the intestine (By similarity).

Phenotypes From GWAS Catalog for HTR2B Gene

Gene Ontology (GO) - Molecular Function for HTR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding IMP 15625277
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004993 G-protein coupled serotonin receptor activity IDA 7582481
GO:0005096 GTPase activator activity IEA,ISS --
genes like me logo Genes that share ontologies with HTR2B: view
genes like me logo Genes that share phenotypes with HTR2B: view

Animal Models for HTR2B Gene

MGI Knock Outs for HTR2B:

Animal Model Products

Clone Products

  • Addgene plasmids for HTR2B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HTR2B Gene

Localization for HTR2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for HTR2B Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, synaptosome.

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 HTR2B gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HTR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 15925089
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HTR2B: view

Pathways & Interactions for HTR2B Gene

genes like me logo Genes that share pathways with HTR2B: view

Gene Ontology (GO) - Biological Process for HTR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration ISS --
GO:0001819 positive regulation of cytokine production IDA 19023134
GO:0001938 positive regulation of endothelial cell proliferation IEA,IMP 19308295
GO:0002031 G-protein coupled receptor internalization IEA --
GO:0003007 heart morphogenesis IEA,ISS --
genes like me logo Genes that share ontologies with HTR2B: view

No data available for SIGNOR curated interactions for HTR2B Gene

Drugs & Compounds for HTR2B Gene

Products:

  1. Drug

(149) Drugs for HTR2B Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Apomorphine Approved, Investigational Pharma Partial agonist, Agonist, Target, agonist 40
Bromocriptine Approved, Investigational Pharma Antagonist, Target, agonist 33
Cabergoline Approved Pharma Antagonist, Target, agonist 50
Lisuride Approved, Investigational Pharma Antagonist, Target, antagonist, agonist 5
Methysergide Approved Pharma Antagonist, Target, antagonist 0

(18) Additional Compounds for HTR2B Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(plusmn)-norfenfluramine
Full agonist, Agonist
<i>m</i>-CPP
Antagonist
5-HT
Full agonist, Agonist
alpha-methyl-5-HT
Full agonist, Agonist
DOB
Full agonist, Agonist

(5) Tocris Compounds for HTR2B Gene

Compound Action Cas Number
alpha-Methyl-5-hydroxytryptamine maleate 5-HT2B agonist 97469-12-0
BW 723C86 hydrochloride 5-HT2B agonist 160521-72-2
m-CPP hydrochloride 5-HT2B/2C receptor agonist 13078-15-4
SB 204741 Potent, selective 5-HT2B antagonist 152239-46-8
SDZ SER 082 fumarate Selective 5-HT2B/2C antagonist 1417343-80-6

(25) ApexBio Compounds for HTR2B Gene

Compound Action Cas Number
Amperozide hydrochloride
BW 723C86 hydrochloride 5-HT2B agonist 160521-72-2
Cinanserin hydrochloride 54-84-2
Cyclobenzaprine HCl 5-HT2 receptor antagonist 6202-23-9
DV 7028 hydrochloride 133364-62-2
LY 215840 137328-52-0
LY 266097 hydrochloride 172895-39-5
LY 272015 hydrochloride 172895-15-7
LY 393558 271780-64-4
Metergoline 17692-51-2
Methiothepin maleate 19728-88-2
Methylergometrine maleate 57432-61-8
Org 12962 hydrochloride 210821-63-9
Org 37684 213007-95-5
PNU 22394 hydrochloride 15923-42-9
PRX-08066 5-HT2BR antagonist 866206-54-4
PRX-08066 Maleic acid 5-HT2B receptor antagonist,potent and selective 866206-55-5
Ritanserin 87051-43-2
RS 127445 5-HT2B receptor antagonist,high affinity 199864-87-4
SB 204741 152239-46-8
SB 206553 hydrochloride 1197334-04-5
SB 221284 196965-14-7
SB 228357 181629-93-6
SDZ SER 082 fumarate 1417343-80-6
α-Methyl-5-hydroxytryptamine maleate 97469-12-0
genes like me logo Genes that share compounds with HTR2B: view

Drug Products

Transcripts for HTR2B Gene

Products:

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mRNA/cDNA for HTR2B Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HTR2B Gene

5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled:
Representative Sequences:

Clone Products

  • Addgene plasmids for HTR2B

Alternative Splicing Database (ASD) splice patterns (SP) for HTR2B Gene

No ASD Table

Relevant External Links for HTR2B Gene

GeneLoc Exon Structure for
HTR2B
ECgene alternative splicing isoforms for
HTR2B

Expression for HTR2B Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HTR2B Gene

mRNA expression in normal human tissues for HTR2B Gene
mRNA expression by BioGPS for HTR2B GenemRNA expression by GTEx for HTR2B Gene

mRNA differential expression in normal tissues according to GTEx for HTR2B Gene

This gene is overexpressed in Adrenal Gland (x6.9), Uterus (x6.3), Esophagus - Muscularis (x5.9), and Colon - Sigmoid (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of HTR2B Gene:

HTR2B

SOURCE GeneReport for Unigene cluster for HTR2B Gene:

Hs.421649

mRNA Expression by UniProt/SwissProt for HTR2B Gene:

P41595-5HT2B_HUMAN
Tissue specificity: Ubiquitous. Detected in liver, kidney, heart, pulmonary artery, and intestine. Detected at lower levels in blood, placenta and brain, especially in cerebellum, occipital cortex and frontal cortex.

Evidence on tissue expression from TISSUES for HTR2B Gene

  • Nervous system(4.5)
  • Intestine(4.4)
  • Skin(4.1)
  • Stomach(2.2)
  • Heart(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with HTR2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 HTR2B Gene

Orthologs for HTR2B Gene

This gene was present in the common ancestor of animals.

Orthologs for HTR2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HTR2B 33 34
  • 99.31 (n)
cow
(Bos Taurus)
 Mammalia HTR2B 33
  • 90.28 (n)
5HTR2B 34
  • 89 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia HTR2B 33
  • 89.55 (n)
5HT2B 34
  • 86 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Htr2b 33 16 34
  • 82.74 (n)
rat
(Rattus norvegicus)
 Mammalia Htr2b 33
  • 82.67 (n)
oppossum
(Monodelphis domestica)
 Mammalia HTR2B 34
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HTR2B 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves gga-mir-6558 34
  • 76 (a)
 OneToOne
HTR2B 33
  • 73.88 (n)
lizard
(Anolis carolinensis)
 Reptilia HTR2B 34
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia htr2b 33
  • 67.92 (n)
zebrafish
(Danio rerio)
 Actinopterygii htr2b 33 34
  • 63.73 (n)
fruit fly
(Drosophila melanogaster)
 Insecta 5-HT2 35 34
  • 39 (a)
CG42796 34
  • 15 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ser-1 34
  • 18 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 21 (a)
 OneToMany
Species where no ortholog for HTR2B 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 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)

Evolution for HTR2B Gene

ENSEMBL:
Gene Tree for HTR2B (if available)
TreeFam:
Gene Tree for HTR2B (if available)

Paralogs for HTR2B Gene

Paralogs for HTR2B Gene

(13) SIMAP similar genes for HTR2B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with HTR2B: view

Variants for HTR2B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HTR2B Gene

5HT2B_HUMAN-P41595
A variation at a single nucleotide base, which results in an erroneous stop codon and affects Gln-20, triggers non-sense mediated RNA decay, such that no HTR2B-receptor protein is expressed. It is associated with impulsive behavior and co-segregates with disorders characterized by impulsivity. However, the presence of this variant is not in itself sufficient to cause impulsive behavior: male sex, testosterone level, alcohol and stress exposure are other factors playing important roles.

Sequence variations from dbSNP and Humsavar for HTR2B Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000012769 -- 231,126,126(-) G/A upstream_transcript_variant
rs1000023009 -- 231,123,042(-) G/T intron_variant
rs1000347784 -- 231,113,592(-) G/A intron_variant
rs1000383137 -- 231,120,814(-) T/G intron_variant
rs1000436922 -- 231,121,079(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HTR2B Gene

Variant ID Type Subtype PubMed ID
nsv525474 CNV loss 19592680
nsv524208 CNV gain 19592680
esv3339619 CNV insertion 20981092
esv3307622 CNV mobile element insertion 20981092
dgv4181n100 CNV loss 25217958

Variation tolerance for HTR2B Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HTR2B Gene

Human Gene Mutation Database (HGMD)
HTR2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HTR2B

Disorders for HTR2B Gene

MalaCards: The human disease database

(5) MalaCards diseases for HTR2B Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ocular hypotension
  • hypotony of eye
heart valve disease
  • abnormality of the heart valves
chronic pulmonary heart disease
pulmonary hypertension
  • primary pulmonary hypertension
migraine with or without aura 1
  • migraine with or without aura, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search HTR2B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HTR2B

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 HTR2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HTR2B Gene

Publications for HTR2B Gene

  1. Agonist-directed trafficking of signalling at serotonin 5-HT2A, 5-HT2B and 5-HT2C-VSV receptors mediated Gq/11 activation and calcium mobilisation in CHO cells. (PMID: 18703043) Cussac D … Rauly-Lestienne I (European journal of pharmacology 2008) 3 4 22 25 58
  2. Agonist actions of dihydroergotamine at 5-HT2B and 5-HT2C receptors and their possible relevance to antimigraine efficacy. (PMID: 12970106) Schaerlinger B … Maroteaux L (British journal of pharmacology 2003) 3 4 22 25 58
  3. 5-HT2B receptor-mediated calcium release from ryanodine-sensitive intracellular stores in human pulmonary artery endothelial cells. (PMID: 8882600) Ullmer C … Lübbert H (British journal of pharmacology 1996) 3 4 22 58
  4. Cloning and functional characterization of the human 5-HT2B serotonin receptor. (PMID: 8143856) Schmuck K … Lübbert H (FEBS letters 1994) 2 3 4 58
  5. The human serotonin 5-HT2B receptor: pharmacological link between 5-HT2 and 5-HT1D receptors. (PMID: 7926008) Choi DS … Maroteaux L (FEBS letters 1994) 3 4 22 58

Products for HTR2B Gene

  • Addgene plasmids for HTR2B

Sources for HTR2B Gene

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