HTR1B
5-hydroxytryptamine receptor 1B, the group of 5-hydroxytryptamine receptors, G protein-coupled
Basic information
Region (hg38): 6:77460924-77463491
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HTR1B gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 2 | 0 |
Variants in HTR1B
This is a list of pathogenic ClinVar variants found in the HTR1B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-77462332-C-G | not specified | Uncertain significance (Jun 03, 2022) | ||
| 6-77462368-A-G | not specified | Uncertain significance (Oct 05, 2021) | ||
| 6-77462431-C-T | not specified | Uncertain significance (Mar 26, 2024) | ||
| 6-77462598-G-A | not specified | Uncertain significance (Jun 03, 2024) | ||
| 6-77462673-G-A | not specified | Uncertain significance (Oct 02, 2023) | ||
| 6-77462674-G-T | not specified | Uncertain significance (Jan 30, 2024) | ||
| 6-77462729-G-A | Likely benign (Aug 15, 2018) | |||
| 6-77462764-C-T | not specified | Uncertain significance (Dec 28, 2022) | ||
| 6-77463203-A-T | not specified | Uncertain significance (Sep 25, 2023) | ||
| 6-77463299-G-T | Likely benign (May 15, 2018) | |||
| 6-77463384-T-G | not specified | Uncertain significance (May 24, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HTR1B | protein_coding | protein_coding | ENST00000369947 | 1 | 1543 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.189 | 0.801 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.778 | 181 | 213 | 0.850 | 0.0000101 | 2498 |
| Missense in Polyphen | 35 | 74.812 | 0.46784 | 901 | ||
| Synonymous | -1.32 | 109 | 92.8 | 1.17 | 0.00000456 | 862 |
| Loss of Function | 2.22 | 3 | 10.9 | 0.275 | 4.81e-7 | 116 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances, such as lysergic acid diethylamide (LSD). 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. Arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Regulates the release of 5-hydroxytryptamine, dopamine and acetylcholine in the brain, and thereby affects neural activity, nociceptive processing, pain perception, mood and behavior. Besides, plays a role in vasoconstriction of cerebral arteries. {ECO:0000269|PubMed:10452531, ECO:0000269|PubMed:1315531, ECO:0000269|PubMed:1328844, ECO:0000269|PubMed:1348246, ECO:0000269|PubMed:1351684, ECO:0000269|PubMed:1559993, ECO:0000269|PubMed:1565658, ECO:0000269|PubMed:15853772, ECO:0000269|PubMed:1610347, ECO:0000269|PubMed:23519210, ECO:0000269|PubMed:23519215, ECO:0000269|PubMed:8218242}.;
- Pathway
- 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;GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Serotonin HTR1 Group and FOS Pathway;Signaling by GPCR;Signal Transduction;Serotonin receptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- loftool
- 0.0732
- rvis_EVS
- -0.4
- rvis_percentile_EVS
- 26.53
Haploinsufficiency Scores
- pHI
- 0.722
- hipred
- Y
- hipred_score
- 0.735
- ghis
- 0.595
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.837
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Htr1b
- Phenotype
- muscle phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- G protein-coupled receptor internalization;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;adenylate cyclase-inhibiting serotonin receptor signaling pathway;protein kinase C-activating G protein-coupled receptor signaling pathway;chemical synaptic transmission;regulation of dopamine secretion;negative regulation of serotonin secretion;negative regulation of synaptic transmission, GABAergic;cellular response to drug;response to cocaine;vasoconstriction;drinking behavior;response to ethanol;bone remodeling;regulation of behavior;response to mineralocorticoid;negative regulation of synaptic transmission, glutamatergic;cellular response to alkaloid;cellular response to temperature stimulus;presynaptic modulation of chemical synaptic transmission;regulation of presynaptic cytosolic calcium ion concentration;positive regulation of vascular smooth muscle cell proliferation;regulation of synaptic vesicle exocytosis
- Cellular component
- cytoplasm;plasma membrane;integral component of plasma membrane;dendrite;calyx of Held;integral component of presynaptic membrane;serotonergic synapse
- Molecular function
- G protein-coupled receptor activity;G protein-coupled serotonin receptor activity;protein binding;drug binding;neurotransmitter receptor activity;serotonin binding;voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels