HTR2B Gene (Protein Coding)

5-Hydroxytryptamine Receptor 2B

GC02M231108
GIFtS:
43
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 cardiovascu... See more...

Aliases for HTR2B Gene

Aliases for HTR2B Gene

  • 5-Hydroxytryptamine Receptor 2B 2 3 4 5
  • 5-HT2B 2 3 4
  • 5-Hydroxytryptamine (Serotonin) Receptor 2B, G Protein-Coupled 2 3
  • Serotonin Receptor 2B 3 4
  • 5-HT(2B) 2 3
  • 5-HT-2B 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
  • HTR2B 5

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 Heart Valve Disease and Ocular Hypotension. Among its related pathways are RET signaling and Signaling by GPCR. 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 Summary 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 , Rfam classification and piRNA Summary for HTR2B Gene

Genomics for HTR2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HTR2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HTR2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HTR2B

Top Transcription factor binding sites by QIAGEN in the HTR2B gene promoter:
  • c-Ets-1
  • Evi-1
  • GATA-1
  • HSF1 (long)
  • HSF1short
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for HTR2B Gene

Genomic Locations for HTR2B Gene
chr2:231,108,230-231,126,172
(GRCh38/hg38)
Size:
17,943 bases
Orientation:
Minus strand
chr2:231,972,944-231,989,832
(GRCh37/hg19)
Size:
16,889 bases
Orientation:
Minus strand

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

  • Glycosylation at Asn30
  • Modification sites at PhosphoSitePlus

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:
  • 5-hydroxytryptamine receptor signature
  • 5-hydroxytryptamine 2B receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for HTR2B Gene

GenScript: Design optimal peptide antigens:
  • Serotonin receptor 2B (5HT2B_HUMAN)
  • 5-hydroxytryptamine (Serotonin) receptor 2B (B3VRC5_HUMAN)
  • 5-hydroxytryptamine (Serotonin) receptor 2B (B3VRD0_HUMAN)
  • 5-hydroxytryptamine (Serotonin) receptor 2B (B3VRD5_HUMAN)
  • 5-hydroxytryptamine receptor 2B variant b (Q7Z580_HUMAN)

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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Molecular function for HTR2B Gene

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).
GENATLAS Biochemistry:
5-hydroxytryptamine (serotonin) receptor,subtype 2B,G protein coupled receptor superfamily,activating the phosphatidylinositol cycle

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:0004930 G protein-coupled receptor activity IBA 21873635
GO:0004993 G protein-coupled serotonin receptor activity IDA 7582481
GO:0005096 GTPase activator activity IEA,ISS --
GO:0005515 protein binding IPI 28258217
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
nucleus 4
extracellular 2
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HTR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 15925089
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
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

SIGNOR curated interactions for HTR2B Gene

Activates:

Gene Ontology (GO) - Biological Process for HTR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IEA,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

Drugs & Compounds for HTR2B Gene

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  1. Drug

(158) 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 Agonist, Partial agonist, Antagonist, Full agonist, Activator, Activation, Target, agonist 48
Bromocriptine Approved, Investigational Pharma Antagonist, Agonist, Partial agonist, Full agonist, Target, agonist 44
Cabergoline Approved Pharma Antagonist, Agonist, Full agonist, Partial agonist, Target, agonist 60
Lisuride Approved, Investigational Pharma Antagonist, Agonist, Partial agonist, Full agonist, Target, antagonist, agonist 5
Methysergide Approved Pharma Antagonist, Agonist, Partial agonist, Target, antagonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(±)-norfenfluramine
Agonist, Full agonist
<i>m</i>-CPP
Antagonist, Agonist, Partial agonist
5-HT
Agonist, Full agonist, Inhibitor, Inhibition
DOB
Agonist, Full agonist
MDL-100,907
Antagonist

(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

(24) ApexBio Compounds for HTR2B Gene

Compound Action Cas Number
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

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mRNA/cDNA for HTR2B Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for HTR2B Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Intestine(4.5)
  • Skin(4.4)
  • Liver(2.5)
  • Heart(2.5)
  • Muscle(2.5)
  • Stomach(2.4)
  • Kidney(2.3)
  • Blood(2.3)
  • Adrenal gland(2.3)
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 30 31
  • 99.31 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HTR2B 30
  • 90.28 (n)
5HTR2B 31
  • 89 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HTR2B 30
  • 89.55 (n)
5HT2B 31
  • 86 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Htr2b 30 17 31
  • 82.74 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Htr2b 30
  • 82.67 (n)
Oppossum
(Monodelphis domestica)
 Mammalia HTR2B 31
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia HTR2B 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves gga-mir-6558 31
  • 76 (a)
 OneToOne
HTR2B 30
  • 73.88 (n)
Lizard
(Anolis carolinensis)
 Reptilia HTR2B 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia htr2b 30
  • 67.92 (n)
Zebrafish
(Danio rerio)
 Actinopterygii htr2b 30 31
  • 63.73 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG42796 31
  • 15 (a)
 ManyToMany
5-HT2 31 32
  • 15 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea ser-1 31
  • 18 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 21 (a)
 OneToMany
Species where no ortholog for HTR2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HTR2B: view image

Paralogs for HTR2B Gene

Paralogs for HTR2B Gene

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

  • 5HT2B_HUMAN
  • B3VRC5_HUMAN
  • B3VRD0_HUMAN
  • B3VRD5_HUMAN
  • Q7Z580_HUMAN
genes like me logo Genes that share paralogs with HTR2B: view

Variants for HTR2B Gene

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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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HTR2B Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
709655 Benign: not provided 231,109,341(-) C/A MISSENSE_VARIANT,INTRON_VARIANT
725269 Benign: not provided 231,109,129(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
779323 Benign: not provided 231,108,649(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
779324 Benign: not provided 231,123,613(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
791235 Benign: not provided 231,108,702(-) T/C MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HTR2B Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

Disorders for HTR2B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
heart valve disease
  • valvular heart disease
ocular hypotension
  • hypotony of eye
pulmonary hypertension
  • primary pulmonary hypertension
chronic pulmonary heart disease
hypoactive sexual desire disorder
  • lack or loss of sexual desire
- 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
Open Targets Platform
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 23 26
  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 23 26
  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 23
  4. 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 23
  5. Cloning and functional characterization of the human 5-HT2B serotonin receptor. (PMID: 8143856) Schmuck K … Lübbert H (FEBS letters 1994) 2 3 4

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