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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HTR2B Gene

protein-coding GIFtS: 64
GCID: GC02M231936

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

(Previous name: 5-hydroxytryptamine (serotonin) receptor 2B )

Explore 25 diseases affiliated with
HTR2B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
5-Hydroxytryptamine (Serotonin) Receptor 2B, G Protein-Coupled¹ ²		5-Hydroxytryptamine (Serotonin) Receptor 2B¹
5-HT2B¹ ² ³		5-HT 2B Receptor²
5-HT(2B)¹ ²		5-Hydroxytryptamine 2B Receptor²
Serotonin Receptor 2B² ³		5-Hydroxytryptamine Receptor 2B²
5-HT-2B² ³		5-Hydroxytryptamine Receptor 2B Variant B²

External Ids:	HGNC: 5294¹	Entrez Gene: 3357²	Ensembl: ENSG00000135914⁷	OMIM: 601122⁵	UniProtKB: P41595³

Export aliases for HTR2B gene to outside databases

Previous GC identifers: GC02M230030 GC02M230704 GC02M232175 GC02M231798 GC02M231681 GC02M223815

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HTR2B:

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. (provided by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: 5HT2B_HUMAN, P41595

Function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that

functions as a neurotransmitter, a hormone, and a mitogen. This receptor mediates its action by association with G

proteins that activate a phosphatidylinositol-calcium second messenger system. Plays a role in the regulation of

impulsive behavior

summary for HTR2B:

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 little limited distribution in

the brain. The functions of 5-HT2B receptors include regulation of differentiation and proliferation of the

embryonic and adult heart, gastrointestinal contraction and endothelium-dependent relaxation. Furthermore,

5-HT2B receptor knockout mice exhibit gross heart defects and 5-HT2B overexpression leads to ventricular

hypertrophy. The human 5-HT2B receptor gene has been localized to chromosome 2 (2q36.3-q37.1).

Gene Wiki entry for HTR2B (5-HT2B receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HTR2B gene promoter:
Nkx3-1 v4 HSF1 (long) Nkx3-1 v1 Evi-1 GATA-1 c-Ets-1 Nkx3-1 v2 HSF1short Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HTR2B promoter sequence

Search SABiosciences Chromatin IP Primers for HTR2B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HTR2B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q36.3-q37.1 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q36.3-q37.1

HTR2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HTR2B gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M231936: view genomic region (about GC identifiers)

Start:	231,972,944 bp from pter	End:	231,989,832 bp from pter
Size:	16,889 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 5HT2B_HUMAN, P41595 (See protein sequence)

Recommended Name: 5-hydroxytryptamine receptor 2B

Size: 481 amino acids; 54298 Da

Subunit: Interacts with MPDZ

Subcellular location: Cell membrane; Multi-pass membrane protein

Secondary accessions: B2R9D5 Q53TI1 Q62221 Q6P523

Explore the universe of human proteins at neXtProt for HTR2B: NX_P41595

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P41595

HTR2B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000858.3

ENSEMBL proteins:

ENSP00000258400

Reactome Protein details: P41595
Human Recombinant Protein Products:

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	Uscn Proteins for HTR2B

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	15925089
GO:0005886	plasma membrane	TAS	--
GO:0016021	integral to membrane	IEA	--

HTR2B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for HTR2B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HTR2B for domains About GeneDecksing

4 InterPro domains/families:

IPR017452 GPCR_Rhodpsn_7TM

IPR000482 5HT2B_rcpt

IPR002231 5HT_rcpt

IPR000276 GPCR_Rhodpsn

Graphical View of Domain Structure for InterPro Entry P41595

ProtoNet protein and cluster: P41595

2 Blocks protein families:

IPB000482 5-hydroxytryptamine 2B receptor signature

IPB002231 5-hydroxytryptamine receptor signature

UniProtKB/Swiss-Prot: 5HT2B_HUMAN, P41595

Similarity: Belongs to the G-protein coupled receptor 1 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 5HT2B_HUMAN, P41595

Function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that

functions as a neurotransmitter, a hormone, and a mitogen. This receptor mediates its action by association with G

proteins that activate a phosphatidylinositol-calcium second messenger system. Plays a role in the regulation of

impulsive behavior

Genatlas biochemistry entry for HTR2B:

5-hydroxytryptamine (serotonin) receptor,subtype 2B,G protein coupled receptor superfamily,activating the

phosphatidylinositol cycle

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTR2B

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001965	G-protein alpha-subunit binding	IMP	15625277
GO:0004435	phosphatidylinositol phospholipase C activity	IMP	16517693
GO:0004993	serotonin receptor activity	IDA	7582481
GO:0005099	Ras GTPase activator activity	ISS	--
GO:0005262	calcium channel activity	IMP	8882600

HTR2B for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Htr2b^tm1Lum for HTR2B
     9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Htr2b):

cardiovascular system	cellular	embryogenesis	growth/size	mortality/aging
muscle	normal	reproductive system	skeleton

HTR2B for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			GPCRs, Class A Rhodopsin-like	0.41
	GPCR ligand binding	0.75			Neuroactive ligand-receptor interaction	0.38

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Monoamine GPCRs

	Monoamine GPCRs	1.00			Serotonin receptors	0.36
	Amine ligand-binding receptors	0.79

G alpha (q) signalling events

G alpha (q) signalling events

1.00

Gastrin-CREB signalling pathway via PKC and MAPK

0.90

Signaling in Gap Junctions

Signaling in Gap Junctions

1.00

Gap junction

0.31

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HTR2B

	Intracellular Calcium Signaling
	Signaling in Gap Junctions

3 BioSystems Pathways for HTR2B

	Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
	GPCRs, Class A Rhodopsin-like
	Monoamine GPCRs

5/9 Reactome Pathways for HTR2B (see all 9)

	GPCR downstream signaling
	Gastrin-CREB signalling pathway via PKC and MAPK
	Signaling by GPCR
	GPCR ligand binding
	Class A/1 (Rhodopsin-like receptors)

3 Kegg Pathways (Kegg details for HTR2B):

	Calcium signaling pathway
	Neuroactive ligand-receptor interaction
	Gap junction

HTR2B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HTR2B

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/128 Interacting proteins for HTR2B (P41595^{2, 3} ENSP00000258400⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 128)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MPDZ	O75970²^,³, ENSP00000370410⁴	MINT-73188 I2D: score=1 STRING: ENSP00000370410
GNAQ	P50148³, ENSP00000286548⁴	I2D: score=1 STRING: ENSP00000286548
GNA11	P29992³, ENSP00000078429⁴	I2D: score=1 STRING: ENSP00000078429
SNTA1	Q13424³	I2D: score=1
ANXA1	ENSP00000257497⁴	STRING: ENSP00000257497

About this table

Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37): About this table

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	IMP	19308295
GO:0002031	G-protein coupled receptor internalization	IMP	15625277
GO:0003007	heart morphogenesis	ISS	--

HTR2B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HTR2B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for HTR2B available from Tocris Bioscience About this table

Compound	Action	CAS #
RS 127445 hydrochloride	Selective, high affinity 5-HT2B antagonist	[199864-87-4]
LY 272015 hydrochloride	High affinity 5-HT2B antagonist, orally active	[172895-15-7]
SB 204741	Potent, selective 5-HT2B antagonist	[152239-46-8]
SB 206553 hydrochloride	Potent, selective 5-HT2C/5-HT2B antagonist. Orally active	[158942-04-2]
LY 266097 hydrochloride	Selective 5-HT2B receptor antagonist	[172895-39-5]

4 HMDB Compounds for HTR2B About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Quetiapine	Quetiapine fumarate (see all 2)	111974-69-7	--
Serotonin	3-(2-Aminoethyl)-1H-indol-5-ol (see all 14)	50-67-9	--
Sumatriptan	Imigran (see all 4)	103628-46-2	--

10/18 DrugBank Compounds for HTR2B (see all 18) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Fenfluramine	DEA No. 1670 (see all 4)	458-24-2	target	agonist	12761331 14659797 16960982 11104741 10617681 17202450
Cabergoline	Cabergolina [Spanish] (see all 2)	81409-90-7	target	agonist	20426763 19570945 10641988 18691132 18992242
Minaprine	Minaprina [INN-Spanish] (see all 4)	25905-77-5	target	antagonist	17139284 2975224 11752352 1361012 17016423
Triflupromazine	--	146-54-3	target	antagonist	497523 17139284 11752352 17016423
Bromocriptine	Bromergocryptine (see all 10)	25614-03-3	target	agonist	18703043 10641988 18691132
Clomipramine	3-Chloroimipramine (see all 6)	303-49-1	target	antagonist	14501155 1296670 9862411
Pergolide	Pergolida [INN-Spanish] (see all 4)	66104-22-1	target	agonist	18703043 10641988 18691132
Tegaserod	SDZ HTF 919 (see all 2)	189188-57-6	target	antagonist	16495076 16629860 15466450
Chlorprothixene	Alpha-Chlorprothixene (see all 9)	113-59-7	target	antagonist	17139284 17016423
Dihydroergotamine	9,10-dihydro-ergotamine (see all 6)	6190-39-2	target	agonist	12970106 11752352

10/21 Novoseek chemical compound relationships for HTR2B gene (see all 21) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sb204741	93.7	5	15007537 (1), 16629860 (1), 19075042 (1)
rs102221	83.6	1	19075042 (1)
m-chlorophenylpiperazine	79.7	4	8856697 (2), 10498829 (1)
5-hydroxytryptamine	76.3	39	10617681 (3), 19075042 (2), 17950805 (1), 11387323 (1) (see all 11)
agomelatine	69.2	2	12750432 (1), 16869122 (1)
tegaserod	68.4	1	16629860 (1)
ketanserin	67.9	2	15007537 (1), 17209458 (1)
mcpp	63.8	3	8856697 (2)
hallucinogen	63.3	1	9933142 (1)
inositol triphosphate	53.1	1	12970106 (1)

Search CenterWatch for drugs/clinical trials and news about HTR2B / 5HT2B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HTR2B gene:

NM_000867.4

Unigene Cluster for HTR2B:

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

Hs.421649 [show with all ESTs]

Unigene Representative Sequence: BC063123

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000258400(uc010fxv.3 uc002vro.3)

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Additional cDNA sequence:

AK313741.1 AY114103.1 AY136751.1 BC063123.1 X77307.1 Z36748.1

1 DOTS entry:

DT.209532

24 AceView cDNA sequences:

X77307 AI245235 AY136751 BX280117 AI167519 BU620850 BQ019778 BC063123

N44163 AY114103 AI042025 N36174 AI868853 NM_000867 AA588822 CD246183

AW299447 Z36748 AL702991 BQ301544 AI290224 H99362 AI264038 AW027765

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HTR2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTGACTGTG

About this image

HTR2B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Fetal cardiomyocytes (20 weeks) (Primary Cell)

Heart, Myocardium

See HTR2B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HTR2B

SOURCE GeneReport for Unigene cluster: Hs.421649

UniProtKB/Swiss-Prot: 5HT2B_HUMAN, P41595

Tissue specificity: Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex

and frontal cortex

SABiosciences Expression via Pathway-Focused PCR Arrays including HTR2B:

Neurotransmitter Receptors in human mouse rat

G Protein Coupled Receptors 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTR2B

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for HTR2B gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NU82_CHICK⁶	Uncharacterized protein	79(a)	1 ↔ 1	9(16252470-16261309)
lizard (Anolis carolinensis)	Reptilia	HTR2B⁶	--	75(a)	1 ↔ 1	GL343433.1(530728-545925)
zebrafish (Danio rerio)	Actinopterygii	htr2b¹	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	63.73(n) 64.76(a)		751784 NM_001044743.1 NP_001038208.1
fruit fly (Drosophila melanogaster)	Insecta	5-HT2³ CG42796¹	serotonin receptor signaling pathway G-protein more³ CG42796¹	39(a)³ 47.11(n)¹ 37.74(a)¹		3 82C5³ 41017¹ NM_141549.2¹ NP_649806.2¹
worm (Caenorhabditis elegans)	Secernentea	ser-1⁶ dop-5⁶	Protein DOP-5	17(a) 11(a)	1 ↔ many possible ortholog	X(16579672-16587389) V(11362438-11366203)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HTR2B gene

TAAR6² HTR2A² HTR6² TAAR2² ADRB1² TAAR8² HRH2² DRD1²

HTR2C² TAAR1² ADRB2² HTR4² DRD5² ADRB3² TAAR5²

15 SIMAP similar genes for HTR2B using alignment to 5 protein entries: 5HT2B_HUMAN (see all proteins):

HTR2C ADORA2A HTR2A CCKBR HTR4 HTR5A

ADRA2C SSTR5 CHRM1 GPR1 HTR1D OPRM1

ADRA1A OPRK1 CHRM2

HTR2B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: 5HT2B_HUMAN, P41595

Polymorphism: 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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79278368^1,2	C,F,	--	231972543(+)	`AAGAGC/TGATTT`	4	--	int¹		1		WA	118
rs116753202^1,2		--	231972763(+)	`TAACTC/GACCTC`	4	--	int¹		1		NA	120
rs146146692^1,2		--	231973092(+)	`TAGATA/TTTCTT`	4	--	ut3¹ int¹		0	--	--	--	--
rs184235052^1,2	C,	--	231973191(+)	`CATCAC/TCTTAC`	4	--	ut3¹ int¹		0	--	--	--	--
rs17855781^1,2	H	--	231973247(+)	`TAACTT/CGCTCT`	5	/Q /R	mis¹ int¹		4		NS EA	418
rs61731723^1,2	C,F,	--	231973363(+)	`GCAGGG/ATTAAT`	5	/N	syn¹ int¹		6		NS CSA WA NA	4749
rs147308867^1,2	C,F,	--	231973378(+)	`TTTCGA/TATTCC`	5	I	syn¹ int¹		1		NA	4548
rs6736017^1,2	C,F,H,	--	231973416(+)	`TGCCAT/CTGGAT`	5	/M /V	int¹ mis¹ ese³		18		NS EA NA WA	6390
rs148411901^1,2	C,F,	--	231973425(+)	`ATTCCG/AGAAGT`	5	/R /W	int¹ mis¹		1		NA	4548
rs180891719^1,2	C,	--	231973446(+)	`GGAGCG/ATTTTC`	5	/R /C	mis¹ int¹		1		EU	1323

HapMap Linkage Disequilibrium report for HTR2B (231972944 - 231989832 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HTR2B: --
Human Gene Mutation Database (HGMD): HTR2B

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HTR2B

DNA2.0 Custom Variant and Variant Library Synthesis for HTR2B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HTR2B for disorders           About GeneDecksing

OMIM gene information: 601122    OMIM disorders: --

20/25 diseases for HTR2B (see all 25):    About MalaCards

obsessive-compulsive disorder major depressive disorder ocular hypotension heart valve disease

chronic fatigue syndrome muscle hypertrophy hepatopulmonary syndrome migraine

neuroendocrine tumor headache pulmonary hypertension liver disease

meningitis hypertension pharyngitis prostate cancer

ischemia fibrosis cerebritis cervicitis

2 Novoseek disease relationships for HTR2B gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
migraine	18.6	6	8743744 (2), 10563226 (1)
tumors	0	1	11478272 (1)

Human Genome Epidemiology (HuGE) Navigator: HTR2B (12 documents)

Export disorders for HTR2B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HTR2B gene, integrated from 9 sources (see all 137):
(articles sorted by number of sources associating them with HTR2B)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and functional characterization of the human 5-HT2B serotonin receptor. (PubMed id 8143856)^{1, 2, 3} Schmuck K.... Luebbert H. (1994)
Agonist actions of dihydroergotamine at 5-HT2B and 5-HT2C receptors and their possible relevance to antimigraine efficacy. (PubMed id 12970106)^{1, 7, 9} Schaerlinger B....Maroteaux L. (2003)
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. (PubMed id 18703043)^{1, 7, 9} Cussac D....Rauly-Lestienne I. (2008)
The human serotonin 5-HT2B receptor: pharmacological link between 5- HT2 and 5-HT1D receptors. (PubMed id 7926008)^{1, 2, 9} Choi D.S.... Maroteaux L. (1994)
A population-specific HTR2B stop codon predisposes to severe impulsivity. (PubMed id 21179162)^{1, 2} Bevilacqua L.... Goldman D. (2010)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Interaction of serotonin 5-hydroxytryptamine type 2C receptors with PDZ10 of the multi-PDZ domain protein MUPP1. (PubMed id 11150294)^{1, 2} Becamel C.... Ullmer C. (2001)
Mutation screening of human 5-HT(2B) receptor gene in early-onset obsessive-compulsive disorder. (PubMed id 10722792)^{1, 2} Kim S.J.... Cook E.H. Jr. (2000)
Molecular cloning, functional expression, and mRNA tissue distribution of the human 5-hydroxytryptamine2B receptor. (PubMed id 8078486)^{1, 2} Kursar J.D.... Baez M. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3357	HGNC: 5294	AceView: HTR2B	Ensembl:ENSG00000135914	euGenes: HUgn3357
ECgene: HTR2B	Kegg: 3357	H-InvDB: HTR2B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HTR2B	Pharmacogenomics, SNPs, Pathways
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt127.shtml

Intellectual Property for HTR2B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HTR2B gene:
Search GeneIP for patents involving HTR2B

GeneCards and IP:
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HTR2B Gene

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

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

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