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HTR2B 5-hydroxytryptamine receptor 2B [ Homo sapiens (human) ]

Gene ID: 3357, updated on 21-Dec-2019

Summary

Official Symbol
HTR2Bprovided by HGNC
Official Full Name
5-hydroxytryptamine receptor 2Bprovided by HGNC
Primary source
HGNC:HGNC:5294
See related
Ensembl:ENSG00000135914 MIM:601122
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
5-HT2B; 5-HT-2B; 5-HT(2B)
Summary
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]
Expression
Biased expression in endometrium (RPKM 10.3), adrenal (RPKM 7.1) and 8 other tissues See more
Orthologs

Genomic context

See HTR2B in Genome Data Viewer
Location:
2q37.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (231108230..231126172, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (231972944..231989926, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 3 Neighboring gene uncharacterized LOC112268432 Neighboring gene chromosome 2 open reading frame 72 Neighboring gene proteasome 26S subunit, non-ATPase 1 Neighboring gene RNA, U1 small nuclear 93, pseudogene Neighboring gene armadillo repeat containing 9 Neighboring gene ribosomal protein S28 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of 5-hydroxytryptamine receptor 2B, G protein-coupled (HTR2B) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
G-protein alpha-subunit binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
GTPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
drug binding IDA
Inferred from Direct Assay
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serotonin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
G protein-coupled receptor internalization IEA
Inferred from Electronic Annotation
more info
 
G protein-coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
activation of phospholipase C activity IDA
Inferred from Direct Assay
more info
PubMed 
behavior IEA
Inferred from Electronic Annotation
more info
 
cGMP-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
calcium-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to temperature stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
intestine smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural crest cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
neural crest cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
phospholipase C-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytokine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nitric-oxide synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphatidylinositol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase C signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase C-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of sequestered calcium ion into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug IDA
Inferred from Direct Assay
more info
PubMed 
serotonin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasoconstriction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
5-hydroxytryptamine receptor 2B
Names
5-HT 2B receptor
5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
5-hydroxytryptamine 2B receptor
5-hydroxytryptamine receptor 2B variant b
serotonin receptor 2B

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_000867.5NP_000858.3  5-hydroxytryptamine receptor 2B isoform 1

    See identical proteins and their annotated locations for NP_000858.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC009407, BC063123, X77307
    Consensus CDS
    CCDS2483.1
    UniProtKB/Swiss-Prot
    P41595
    Related
    ENSP00000258400.3, ENST00000258400.4
    Conserved Domains (2) summary
    pfam00001
    Location:71380
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:72188
    7tm_4; Olfactory receptor
  2. NM_001320758.2NP_001307687.1  5-hydroxytryptamine receptor 2B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC009407, BC063123, X77307
    UniProtKB/Swiss-Prot
    P41595
    Conserved Domains (2) summary
    pfam00001
    Location:29338
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:30146
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    231108230..231126172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246520.4XP_005246577.1  5-hydroxytryptamine receptor 2B isoform X2

    Conserved Domains (1) summary
    pfam00001
    Location:2261
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  2. XM_006712482.3XP_006712545.1  5-hydroxytryptamine receptor 2B isoform X1

    Conserved Domains (2) summary
    pfam00001
    Location:46355
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:47163
    7tm_4; Olfactory receptor
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