GeneBe

HTR2B

protein-coding

5-hydroxytryptamine receptor 2B, the group of 5-hydroxytryptamine receptors, G protein-coupled

Gene 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]

MANE transcript

NM_000867.5

Inheritance

—

ClinVar variants

U:63B:8

Top phenotype

Bardet-Biedl syndrome

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr2:231,108,230-231,125,042

External References & Databases

Ensembl (ENSG00000135914)NCBI Gene (3357)OMIM (601122)HGNC:5294GenCCUniProt (P41595)AlphaFoldClinVar (HTR2B)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~16.8 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HTR2B variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 62
not providedTotal: 7
Bardet-Biedl syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000867.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
62
clinvar
2
clinvar
4
clinvar
 68
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00632671
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_000867.5RefSeqNP_000858.33MANE Select
ENST00000258400.4EnsemblENSP00000258400.33MANE Select
NM_001320758.2RefSeqNP_001307687.13Standard
ENST00000890916.1EnsemblENSP00000560975.13Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Inflammatory mediator regulation of TRP channels - Homo sapiens (human)
  • Serotonergic synapse - Homo sapiens (human)
  • Gap junction - Homo sapiens (human)
  • Calcium signaling pathway - Homo sapiens (human)
  • Neuroactive ligand-receptor interaction - Homo sapiens (human)

Biological Process

  • neural crest cell migration
  • positive regulation of cytokine production
  • positive regulation of endothelial cell proliferation
  • G protein-coupled receptor internalization
  • heart morphogenesis

Molecular Function

  • G-protein alpha-subunit binding
  • G protein-coupled receptor activity
  • G protein-coupled serotonin receptor activity
  • GTPase activator activity
  • drug binding

Cellular Component

  • nucleoplasm
  • cytoplasm
  • plasma membrane
  • integral component of plasma membrane
  • cell junction

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000258400
Coding exons
3
Length
16889
Individuals with no LoFs
125182
Homozygous LoFs
2
Heterozygous LoFs
564
Defined
125748
p
0.00225
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.1342582521.020.00001373113
Missense (PolyPhen)9192.7180.981471199
Synonymous-0.76710191.71.100.00000491992
Loss of Function0.4801618.20.8780.00000119205

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000550.00049rare
Latino/Admixed American0.00100.0010notable
Ashkenazi Jewish0.000500.00050rare
East Asian0.00100.0010notable
Finnish0.0160.016notable
European (Non-Finnish)0.000630.00063rare
South Asian0.00230.0023notable
Other0.00200.0020notable

dbNSFP Gene Annotations

Source: dbNSFP

Function
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). {ECO:0000250|UniProtKB:P30994, ECO:0000250|UniProtKB:Q02152, ECO:0000269|PubMed:12970106, ECO:0000269|PubMed:18703043, ECO:0000269|PubMed:21179162, ECO:0000269|PubMed:23519210, ECO:0000269|PubMed:23519215, ECO:0000269|PubMed:24357322, ECO:0000269|PubMed:28129538, ECO:0000269|PubMed:7926008, ECO:0000269|PubMed:8078486, ECO:0000269|PubMed:8143856, ECO:0000269|PubMed:8882600}.;

Recessive Scores

pRec
0.136

Intolerance Scores

LoFtool
0.915
RVIS EVS
0.11
RVIS percentile EVS
62

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.123

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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