GALR1

galanin receptor 1, the group of Galanin receptors

Basic information

Region (hg38): 18:77249848-77277900

Previous symbols: [ "GALNR1", "GALNR" ]

Links

ENSG00000166573

∙ NCBI:2587 ∙ OMIM:600377 ∙ HGNC:4132 ∙ Uniprot:P47211 ∙ 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 GALR1 gene.

not_specified (52 variants)
not_provided (2 variants)
GALR1-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GALR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001480.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			53 clinvar			53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GALR1	protein_coding	protein_coding	ENST00000299727	3	18354

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000532	0.712	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.209	209	201	1.04	0.00000984	2254
Missense in Polyphen		57	57.269	0.9953		684
Synonymous	0.174	91	93.1	0.977	0.00000497	736
Loss of Function	0.863	6	8.76	0.685	3.76e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000713	0.0000703
Middle Eastern	0.0000548	0.0000544
South Asian	0.0000328	0.0000327
Other	0.000341	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. {ECO:0000269|PubMed:25691535, ECO:0000269|PubMed:7524088}.;
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: 0.181

Intolerance Scores

loftool: 0.669
rvis_EVS: 0.26
rvis_percentile_EVS: 70.44

Haploinsufficiency Scores

pHI: 0.0924
hipred: Y
hipred_score: 0.712
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.394

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Galr1
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); normal 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;adenylate cyclase-activating G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;positive regulation of transcription by RNA polymerase II;positive regulation of cortisol secretion
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