GALR2
Basic information
Region (hg38): 17:76074781-76077537
Links
Phenotypes
GenCC
Source:
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 GALR2 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 | 1 | |||||
missense | 36 | 42 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 36 | 5 | 2 |
Variants in GALR2
This is a list of pathogenic ClinVar variants found in the GALR2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-76074890-G-A | not specified | Uncertain significance (Dec 12, 2023) | ||
17-76074893-T-C | not specified | Uncertain significance (Jul 15, 2021) | ||
17-76074894-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
17-76074991-C-G | not specified | Uncertain significance (Oct 08, 2024) | ||
17-76075010-A-C | not specified | Uncertain significance (Sep 03, 2024) | ||
17-76075032-T-G | not specified | Uncertain significance (Nov 06, 2023) | ||
17-76075094-G-C | not specified | Uncertain significance (Jul 08, 2024) | ||
17-76075097-C-A | not specified | Uncertain significance (Feb 27, 2023) | ||
17-76075122-C-T | not specified | Uncertain significance (May 17, 2023) | ||
17-76075211-C-A | not specified | Uncertain significance (Dec 02, 2021) | ||
17-76075213-C-G | not specified | Uncertain significance (Nov 11, 2024) | ||
17-76075234-C-A | Likely benign (Aug 15, 2018) | |||
17-76076649-C-A | not specified | Uncertain significance (Jun 22, 2024) | ||
17-76076685-C-G | not specified | Uncertain significance (Sep 13, 2023) | ||
17-76076780-C-A | not specified | Uncertain significance (May 26, 2023) | ||
17-76076815-G-A | not specified | Uncertain significance (Feb 17, 2022) | ||
17-76076851-G-A | not specified | Uncertain significance (Apr 24, 2024) | ||
17-76076857-T-C | not specified | Uncertain significance (Aug 01, 2024) | ||
17-76076859-C-A | not specified | Uncertain significance (Feb 16, 2023) | ||
17-76076889-G-A | not specified | Uncertain significance (Sep 03, 2024) | ||
17-76076899-T-C | not specified | Uncertain significance (Jan 20, 2023) | ||
17-76076901-C-A | not specified | Uncertain significance (Mar 06, 2023) | ||
17-76076924-C-A | not specified | Uncertain significance (Aug 25, 2024) | ||
17-76076943-G-A | Benign (Mar 30, 2018) | |||
17-76076952-C-T | not specified | Uncertain significance (Jan 23, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GALR2 | protein_coding | protein_coding | ENST00000329003 | 2 | 2748 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000638 | 0.284 | 125605 | 0 | 30 | 125635 | 0.000119 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.388 | 212 | 228 | 0.928 | 0.0000104 | 2399 |
Missense in Polyphen | 84 | 88.464 | 0.94954 | 1019 | ||
Synonymous | -0.0978 | 111 | 110 | 1.01 | 0.00000528 | 898 |
Loss of Function | 0.0685 | 8 | 8.21 | 0.974 | 3.58e-7 | 74 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000354 | 0.000334 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000383 | 0.000381 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000118 | 0.000114 |
Middle Eastern | 0.000383 | 0.000381 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.000339 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for the hormone galanin and GALP. Receptor for the hormone spexin-1 (PubMed:24517231). The activity of this receptor is mediated by G proteins that activate the phospholipase C/protein kinase C pathway (via G(q)) and that inhibit adenylyl cyclase (via G(i)). {ECO:0000269|PubMed:24517231, ECO:0000269|PubMed:25691535, ECO:0000269|PubMed:9480833, ECO:0000269|PubMed:9685625, ECO:0000269|PubMed:9832121, ECO:0000269|PubMed:9880084}.;
- Pathway
- Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.159
Intolerance Scores
- loftool
- 0.549
- rvis_EVS
- 1.17
- rvis_percentile_EVS
- 92.7
Haploinsufficiency Scores
- pHI
- 0.130
- hipred
- N
- hipred_score
- 0.459
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.215
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Galr2
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- muscle contraction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;multicellular organism development;learning or memory;feeding behavior;neuron projection development;inositol phosphate metabolic process;positive regulation of transcription by RNA polymerase II;phosphatidylinositol metabolic process;galanin-activated signaling pathway;positive regulation of large conductance calcium-activated potassium channel activity
- Cellular component
- plasma membrane;integral component of plasma membrane;integral component of membrane
- Molecular function
- galanin receptor activity;protein binding;G protein-coupled peptide receptor activity;peptide hormone binding;neuropeptide binding