GALR3

galanin receptor 3, the group of Galanin receptors

Basic information

Region (hg38): 22:37823381-37825485

Links

ENSG00000128310 ∙ NCBI:8484 ∙ OMIM:603692 ∙ HGNC:4134 ∙ Uniprot:O60755 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GALR3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GALR3 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						0
missense			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in GALR3

This is a list of pathogenic ClinVar variants found in the GALR3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-37823429-C-T		not specified	Uncertain significance (Jan 26, 2022)
22-37823458-G-A		not specified	Uncertain significance (Dec 05, 2022)
22-37823464-G-C		not specified	Uncertain significance (Mar 07, 2024)
22-37823539-C-G		not specified	Uncertain significance (May 23, 2024)
22-37823563-C-G			Likely benign (Nov 01, 2023)
22-37823567-G-A		not specified	Uncertain significance (Apr 22, 2022)
22-37823615-G-A		not specified	Uncertain significance (Nov 01, 2022)
22-37823657-C-T		not specified	Uncertain significance (May 05, 2022)
22-37823683-C-G		not specified	Uncertain significance (Apr 18, 2024)
22-37824758-C-T		not specified	Uncertain significance (Feb 08, 2023)
22-37824892-G-C		not specified	Uncertain significance (May 27, 2022)
22-37824899-C-G		not specified	Uncertain significance (Nov 08, 2021)
22-37825022-C-T		not specified	Uncertain significance (Dec 06, 2021)
22-37825037-C-A		not specified	Uncertain significance (Mar 01, 2024)
22-37825046-G-A		not specified	Uncertain significance (Jun 16, 2023)
22-37825109-G-A		not specified	Uncertain significance (Apr 19, 2024)
22-37825165-G-A		not specified	Uncertain significance (Jun 10, 2024)
22-37825238-C-G		not specified	Uncertain significance (Feb 06, 2023)
22-37825261-G-T		not specified	Uncertain significance (Nov 08, 2022)
22-37825310-C-G		not specified	Uncertain significance (May 05, 2022)
22-37825340-C-T		not specified	Uncertain significance (Mar 31, 2023)
22-37825403-G-T		not specified	Uncertain significance (Oct 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GALR3	protein_coding	protein_coding	ENST00000249041	2	2114

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000135	0.422	125691	0	7	125698	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.214	139	146	0.950	0.00000758	2209
Missense in Polyphen		70	67.441	1.0379		998
Synonymous	-1.00	84	73.1	1.15	0.00000428	868
Loss of Function	0.176	6	6.48	0.926	2.81e-7	78

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000243	0.000242
Ashkenazi Jewish	0.0000998	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the hormone galanin (PubMed:25691535). Receptor for the hormone spexin-1 (PubMed:24517231). {ECO:0000269|PubMed:24517231, ECO:0000269|PubMed:25691535, ECO:0000269|PubMed:9722565, ECO:0000269|PubMed:9832121}.
• 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: 0.138

Haploinsufficiency Scores

• pHI: 0.581
• hipred: N
• hipred_score: 0.285
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.259

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Galr3
• Phenotype: homeostasis/metabolism 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 signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;negative regulation of adenylate cyclase activity;neuropeptide signaling pathway;chemical synaptic transmission;learning or memory;feeding behavior;positive regulation of transcription by RNA polymerase II;galanin-activated signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane;non-motile cilium
• Molecular function: galanin receptor activity;G protein-coupled peptide receptor activity;peptide hormone binding