Hs00580331_cn

• Gene Symbol: HTR2B
• Assay Reference Genome Location: Chr.2:231123465 on build GRCh38
• Cytoband: 2q37.1

Target Gene Details

• Entrez Gene ID: 3357
• Gene Name: 5-hydroxytryptamine receptor 2B
• Gene Aliases: 5-HT(2B), 5-HT-2B, 5-HT2B
• Location: Chr.2:231108230-231125778 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HTR2B	NM_000867.4	2	805	NP_000858.3
	NM_001320758.1	2	422	NP_001307687.1
	XM_005246520.3			XP_005246577.1
	XM_006712482.2	2	1002	XP_006712545.1
	AK313741.1	2	737
	AY114103.1	1	82	AAM78370.1
	AY136751.1	1	300	AAN01277.1
	BC063123.1	2	809	AAH63123.1
	X77307.1	1	355	CAA54513.1
	Z36748.1	1	346	CAA85319.1

Target Gene Details

• Entrez Gene ID: 5707
• Gene Name: proteasome 26S subunit, non-ATPase 1
• Gene Aliases: P112, Rpn2, S1
• Location: Chr.2:231056864-231172827 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PSMD1	NM_001191037.1			NP_001177966.1
	NM_002807.3			NP_002798.2
	NR_034059.1
	AK307415.1
	AK307513.1
	AK312528.1
	BC001053.2			AAH01053.1
	BC014013.2			AAH14013.1
	BC020223.1
	BC032445.1
	BC039845.1			AAH39845.1
	BC047897.1			AAH47897.1
	BC064398.1			AAH64398.1
	BC073833.1			AAH73833.1
	BC094720.1			AAH94720.1
	BC112344.1			AAI12345.1
	BC114434.1			AAI14435.1
	D44466.1			BAA07918.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv524208	Chr.2:231077778 - 231171079 on Build GRCh38	Gain	HTR2B PSMD1
nsv525474	Chr.2:231062855 - 231171079 on Build GRCh38	Loss	HTR2B PSMD1
dgv4181n100	Chr.2:231055301 - 231131114 on Build GRCh38	Loss	HTR2B PSMD1

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

G-protein coupled receptor, protease

Gene Ontology Categories:

Process(es)

neural crest cell migration
positive regulation of cytokine production
positive regulation of endothelial cell proliferation
G-protein coupled receptor internalization
heart morphogenesis
cardiac muscle hypertrophy
cGMP biosynthetic process
cellular calcium ion homeostasis
G-protein coupled receptor signaling pathway
activation of phospholipase C activity
protein kinase C-activating G-protein coupled receptor signaling pathway
serotonin receptor signaling pathway
behavior
positive regulation of cell proliferation
negative regulation of autophagy
positive regulation of phosphatidylinositol biosynthetic process
neural crest cell differentiation
phosphatidylinositol 3-kinase signaling
intestine smooth muscle contraction
phosphorylation
calcium-mediated signaling
hepatic stellate cell activation
vasoconstriction
response to drug
negative regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
positive regulation of MAP kinase activity
positive regulation of GTPase activity
inositol phosphate metabolic process
embryonic morphogenesis
positive regulation of cytokine secretion
regulation of behavior
positive regulation of nitric-oxide synthase activity
release of sequestered calcium ion into cytosol
positive regulation of cell division
negative regulation of cell death
ERK1 and ERK2 cascade
positive regulation of ERK1 and ERK2 cascade
protein kinase C signaling
cellular response to amine stimulus
cellular response to temperature stimulus
cellular response to serotonin
MAPK cascade
protein polyubiquitination
stimulatory C-type lectin receptor signaling pathway
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
regulation of cellular amino acid metabolic process
anaphase-promoting complex-dependent catabolic process
tumor necrosis factor-mediated signaling pathway
NIK/NF-kappaB signaling
Fc-epsilon receptor signaling pathway
proteasome-mediated ubiquitin-dependent protein catabolic process
regulation of mRNA stability
T cell receptor signaling pathway
negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle
positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition
Wnt signaling pathway, planar cell polarity pathway
negative regulation of canonical Wnt signaling pathway
positive regulation of canonical Wnt signaling pathway

Function(s)

G-protein alpha-subunit binding
G-protein coupled serotonin receptor activity
GTPase activator activity
drug binding
serotonin binding
endopeptidase activity
enzyme regulator activity