GALR2

galanin receptor 2, the group of Galanin receptors

Basic information

Region (hg38): 17:76074781-76077537

Links

ENSG00000182687NCBI:8811OMIM:603691HGNC:4133Uniprot:O43603AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GALR2 gene.

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
clinvar
1
missense
36
clinvar
4
clinvar
2
clinvar
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)3098269
17-76074893-T-C not specified Uncertain significance (Jul 15, 2021)2237872
17-76074894-C-T not specified Uncertain significance (Dec 20, 2023)3098263
17-76074991-C-G not specified Uncertain significance (Oct 08, 2024)3518680
17-76075010-A-C not specified Uncertain significance (Sep 03, 2024)3518672
17-76075032-T-G not specified Uncertain significance (Nov 06, 2023)3098264
17-76075094-G-C not specified Uncertain significance (Jul 08, 2024)3518675
17-76075097-C-A not specified Uncertain significance (Feb 27, 2023)2489375
17-76075122-C-T not specified Uncertain significance (May 17, 2023)2547240
17-76075211-C-A not specified Uncertain significance (Dec 02, 2021)2241817
17-76075213-C-G not specified Uncertain significance (Nov 11, 2024)2391609
17-76075234-C-A Likely benign (Aug 15, 2018)739873
17-76076649-C-A not specified Uncertain significance (Jun 22, 2024)3280671
17-76076685-C-G not specified Uncertain significance (Sep 13, 2023)2601546
17-76076780-C-A not specified Uncertain significance (May 26, 2023)2552202
17-76076815-G-A not specified Uncertain significance (Feb 17, 2022)2352619
17-76076851-G-A not specified Uncertain significance (Apr 24, 2024)3280673
17-76076857-T-C not specified Uncertain significance (Aug 01, 2024)3518678
17-76076859-C-A not specified Uncertain significance (Feb 16, 2023)2485636
17-76076889-G-A not specified Uncertain significance (Sep 03, 2024)3518674
17-76076899-T-C not specified Uncertain significance (Jan 20, 2023)3098266
17-76076901-C-A not specified Uncertain significance (Mar 06, 2023)2494257
17-76076924-C-A not specified Uncertain significance (Aug 25, 2024)3518673
17-76076943-G-A Benign (Mar 30, 2018)775336
17-76076952-C-T not specified Uncertain significance (Jan 23, 2024)3098267

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GALR2protein_codingprotein_codingENST00000329003 22748
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000006380.2841256050301256350.000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3882122280.9280.00001042399
Missense in Polyphen8488.4640.949541019
Synonymous-0.09781111101.010.00000528898
Loss of Function0.068588.210.9743.58e-774

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003540.000334
Ashkenazi Jewish0.000.00
East Asian0.0003830.000381
Finnish0.000.00
European (Non-Finnish)0.0001180.000114
Middle Eastern0.0003830.000381
South Asian0.00003270.0000327
Other0.0003390.000326

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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