GeneBe

HTR1E

protein-coding

5-hydroxytryptamine receptor 1E, the group of 5-hydroxytryptamine receptors, G protein-coupled

Gene summary

Enables Gi/o-coupled serotonin receptor activity and serotonin binding activity. Involved in adenylate cyclase-inhibiting serotonin receptor signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_000865.3

Inheritance

—

ClinVar variants

U:32B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.25

Max pathogenic AF

—

Genomic locus

chr6:86,937,528-87,016,679

External References & Databases

Ensembl (ENSG00000168830)NCBI Gene (3354)OMIM (182132)HGNC:5291GenCCUniProt (P28566)AlphaFoldClinVar (HTR1E)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~79.2 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 HTR1E variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 32
not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000865.3. 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
1
clinvar
1
clinvar
 2
missense
32
clinvar
2
clinvar
 34
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00323136
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_000865.3RefSeqNP_000856.11MANE Select
ENST00000305344.7EnsemblENSP00000307766.41MANE Select
ENST00000962028.1EnsemblENSP00000632087.11Standard
ENST00000962028.2EnsemblENSP00000632087.11Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Serotonergic synapse - Homo sapiens (human)
  • cAMP signaling pathway - Homo sapiens (human)
  • Neuroactive ligand-receptor interaction - Homo sapiens (human)
  • Taste transduction - Homo sapiens (human)
  • Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

Biological Process

  • G protein-coupled receptor signaling pathway
  • G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
  • adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
  • chemical synaptic transmission
  • G protein-coupled serotonin receptor signaling pathway

Molecular Function

  • G protein-coupled receptor activity
  • G protein-coupled serotonin receptor activity
  • protein binding
  • neurotransmitter receptor activity
  • serotonin binding

Cellular Component

  • plasma membrane
  • integral component of plasma membrane
  • dendrite

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000305344
Coding exons
1
Length
79326
Individuals with no LoFs
125726
Homozygous LoFs
0
Heterozygous LoFs
22
Defined
125748
p
0.0000875
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.711452160.6720.00001262399
Missense (PolyPhen)56100.530.557041108
Synonymous0.1208788.40.9840.00000547753
Loss of Function1.9828.090.2473.43e-7106

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000120.00012rare
Latino/Admixed American0.0000580.000058rare
Ashkenazi Jewish0.000200.00020rare
East Asian0.0000540.000054rare
Finnish00.0absent
European (Non-Finnish)0.000120.00012rare
South Asian00.0absent
Other0.000170.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. {ECO:0000269|PubMed:14744596, ECO:0000269|PubMed:1513320, ECO:0000269|PubMed:1608964, ECO:0000269|PubMed:1733778, ECO:0000269|PubMed:21422162}.;

Recessive Scores

pRec
0.119

Intolerance Scores

LoFtool
0.580
RVIS EVS
-0.47
RVIS percentile EVS
23.25

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.940

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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