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

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; AllianceGenome:HGNC:5294
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: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (231108230..231125042, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (231592736..231609548, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (231972944..231989756, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Serotonin Receptor HTR2B Facilitates Colorectal Cancer Metastasis via CREB1-ZEB1 Axis-Mediated Epithelial-Mesenchymal Transition.
Title: Serotonin Receptor HTR2B Facilitates Colorectal Cancer Metastasis via CREB1-ZEB1 Axis-Mediated Epithelial-Mesenchymal Transition.
The 5HT2b Receptor in Alzheimer's Disease: Increased Levels in Patient Brains and Antagonist Attenuation of Amyloid and Tau Induced Dysfunction.
Title: The 5HT2b Receptor in Alzheimer's Disease: Increased Levels in Patient Brains and Antagonist Attenuation of Amyloid and Tau Induced Dysfunction.
Neurotransmitter Receptor HTR2B Regulates Lipid Metabolism to Inhibit Ferroptosis in Gastric Cancer.
Title: Neurotransmitter Receptor HTR2B Regulates Lipid Metabolism to Inhibit Ferroptosis in Gastric Cancer.
Synergistic Interaction of 5-HT1B and 5-HT2B Receptors in Cytoplasmic Ca[2+] Regulation in Human Umbilical Vein Endothelial Cells: Possible Involvement in Pathologies.
Title: Synergistic Interaction of 5-HT(1B) and 5-HT(2B) Receptors in Cytoplasmic Ca(2+) Regulation in Human Umbilical Vein Endothelial Cells: Possible Involvement in Pathologies.
Variant rs17619600 in the gene encoding serotonin receptor 2B (HTR2B) increases the risk of gestational diabetes mellitus: a case-control study.
Title: Variant rs17619600 in the gene encoding serotonin receptor 2B (HTR2B) increases the risk of gestational diabetes mellitus: a case-control study.
Pulmonary 5-HT2B receptor expression in fibrotic interstitial lung diseases.
Title: Pulmonary 5-HT(2B) receptor expression in fibrotic interstitial lung diseases.
Targeting serotonin receptor 2B inhibits TGFbeta induced differentiation of human vascular smooth muscle cells.
Title: Targeting serotonin receptor 2B inhibits TGFβ induced differentiation of human vascular smooth muscle cells.
miRNA-203b-3p Induces Acute and Chronic Pruritus through 5-HTR2B and TRPV4.
Title: miRNA-203b-3p Induces Acute and Chronic Pruritus through 5-HTR2B and TRPV4.
Contribution of the STAT Family of Transcription Factors to the Expression of the Serotonin 2B (HTR2B) Receptor in Human Uveal Melanoma.
Title: Contribution of the STAT Family of Transcription Factors to the Expression of the Serotonin 2B (HTR2B) Receptor in Human Uveal Melanoma.
The role of 5-HT2B-receptors in fluoxetine-mediated modulation of Th17- and Th1-cells in multiple sclerosis.
Title: The role of 5-HT(2B)-receptors in fluoxetine-mediated modulation of Th17- and Th1-cells in multiple sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12915 (e-PCR)
- UniSTS:25422

HTR2B_345 (e-PCR)
- UniSTS:277340

RH68938 (e-PCR)
- UniSTS:43692

RH48937 (e-PCR)
- UniSTS:3020

NoName (e-PCR)
- UniSTS:481260

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled serotonin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled serotonin receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables G-protein alpha-subunit binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables Gq/11-coupled serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serotonin binding	IDA Inferred from Direct Assay more info	PubMed
enables serotonin receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in G protein-coupled serotonin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cGMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle hypertrophy	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in intestine smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural crest cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural crest cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipase C-activating serotonin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating serotonin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipase C-activating serotonin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in serotonin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of G protein-coupled serotonin receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of G protein-coupled serotonin receptor complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 5-hydroxytryptamine receptor 2B

Names: 5-HT 2B receptor; 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled; 5-hydroxytryptamine 2B receptor; serotonin receptor 2B

NCBI Reference Sequences (RefSeq)

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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)

NM_000867.5 → NP_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

B2R9D5, P41595, Q53TI1, Q62221, Q6P523

Related

ENSP00000258400.3, ENST00000258400.4

Conserved Domains (2) summary

pfam00001
Location:71 → 380

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:72 → 188

7tm_4; Olfactory receptor
NM_001320758.2 → NP_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:29 → 338

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:30 → 146

7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

231108230..231125042 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005246520.5 → XP_005246577.1 5-hydroxytryptamine receptor 2B isoform X3

UniProtKB/TrEMBL

B3VRC5

Conserved Domains (1) summary

pfam00001
Location:2 → 261

7tm_1; 7 transmembrane receptor (rhodopsin family)
XM_006712482.4 → XP_006712545.1 5-hydroxytryptamine receptor 2B isoform X2

Conserved Domains (2) summary

pfam00001
Location:46 → 355

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:47 → 163

7tm_4; Olfactory receptor
XM_047444114.1 → XP_047300070.1 5-hydroxytryptamine receptor 2B isoform X1

UniProtKB/Swiss-Prot

B2R9D5, P41595, Q53TI1, Q62221, Q6P523

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

231592736..231609548 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341696.1 → XP_054197671.1 5-hydroxytryptamine receptor 2B isoform X3

UniProtKB/TrEMBL

B3VRC5
XM_054341695.1 → XP_054197670.1 5-hydroxytryptamine receptor 2B isoform X2
XM_054341694.1 → XP_054197669.1 5-hydroxytryptamine receptor 2B isoform X1

UniProtKB/Swiss-Prot

B2R9D5, P41595, Q53TI1, Q62221, Q6P523