HTR3D 5-hydroxytryptamine receptor 3D [Homo sapiens (human)] - Gene

Summary

Official Symbol: HTR3Dprovided by HGNC
Official Full Name: 5-hydroxytryptamine receptor 3Dprovided by HGNC
Primary source: HGNC:HGNC:24004
See related: Ensembl:ENSG00000186090 MIM:610122; AllianceGenome:HGNC:24004
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: 5HT3D
Summary: The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
Orthologs: all
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Genomic context

Location:: 3q27.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184031544..184039369)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (186841085..186848924)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183749332..183757157)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings enrich the allelic spectrum of ABCC5 in PACG. We identified no tagging SNP responsible for the association of the whole region.
Title: Genetic Association of the PARL-ABCC5-HTR3D-HTR3C Locus With Primary Angle-Closure Glaucoma in Chinese.
Data show that 5-HT3C, 5-HT3D, and 5-HT3E subunits are coexpressed with 5-HT3A in cell bodies of myenteric neurons, and that 5-HT3A and 5-HT3D were expressed in submucosal plexus of the human large intestine.
Title: Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E.
Polymorphism in HTR3D shows differential risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy.
Title: Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy.
Six functional and coding variants of the subunit genes HTR3A, HTR3B as well as the novel HTR3C, HTR3D, and HTR3E subunits in the response to haloperidol or risperidone, were assessed.
Title: Influence of 5-HT3 receptor subunit genes HTR3A, HTR3B, HTR3C, HTR3D and HTR3E on treatment response to antipsychotics in schizophrenia.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: A candidate gene study of obstructive sleep apnea in European Americans and African Americans.

Submit: New GeneRIF Correction

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
A mega-analysis of genome-wide association studies for major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables excitatory extracellular ligand-gated monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serotonin-gated monoatomic cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables serotonin-gated monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in inorganic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of serotonin-activated cation-selective channel complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 5-hydroxytryptamine receptor 3D

Names: 5-hydroxytryptamine (serotonin) receptor 3 family member D; 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic; 5-hydroxytryptamine receptor 3 subunit D; serotonin 5-HT-3D receptor; serotonin receptor 3D

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.

Genomic

NG_012750.1 RefSeqGene

Range

5199..12826

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145143.1 → NP_001138615.1 5-hydroxytryptamine receptor 3D isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' coding region, compared to variant 3, resulting in an isoform (1) that is shorter than isoform 3.

Source sequence(s)

AC068644, AC131235, BK001746

Consensus CDS

CCDS46966.1

UniProtKB/Swiss-Prot

Q70Z44

Related

ENSP00000405409.2, ENST00000428798.7

Conserved Domains (2) summary

cd19063
Location:182 → 403

LGIC_TM_5-HT3; transmembrane domain of 5-hydroxytryptamine 3 (5-HT3) receptor

cl42365
Location:27 → 402

LIC; Cation transporter family protein
NM_001163646.2 → NP_001157118.1 5-hydroxytryptamine receptor 3D isoform 3 precursor

See identical proteins and their annotated locations for NP_001157118.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AC068644, AC131235, AJ437318, AY159812

Consensus CDS

CCDS54685.1

UniProtKB/Swiss-Prot

C9J2I6, J3QT78, Q495N5, Q495N6, Q70Z44, Q7Z6B3

Related

ENSP00000371929.3, ENST00000382489.3

Conserved Domains (3) summary

TIGR00860
Location:92 → 452

LIC; Cation transporter family protein

pfam02931
Location:55 → 130

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:237 → 351

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001410851.1 → NP_001397780.1 5-hydroxytryptamine receptor 3D isoform 4

Status: REVIEWED

Source sequence(s)

AC068644, AC131235

Consensus CDS

CCDS93429.1

Related

ENSP00000389268.1, ENST00000453435.1
NM_182537.3 → NP_872343.2 5-hydroxytryptamine receptor 3D isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the presence and absence of exons at its 5' end, and uses a downstream translational start codon, compared to variant 3. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 3.

Source sequence(s)

AC068644, AC131235, AY159812, BK001746

Consensus CDS

CCDS3249.1

UniProtKB/TrEMBL

F6WC43

Related

ENSP00000334315.2, ENST00000334128.6

Conserved Domains (1) summary

pfam02932
Location:64 → 176

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region