GAL

galanin and GMAP prepropeptide, the group of Neuropeptides

Basic information

Region (hg38): 11:68683779-68691175

Previous symbols: [ "GALN" ]

Links

ENSG00000069482 ∙ NCBI:51083 ∙ OMIM:137035 ∙ HGNC:4114 ∙ Uniprot:P22466 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• familial temporal lobe epilepsy 8 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Epilepsy, familial temporal lobe, 8	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	25691535

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAL 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				11		11
missense			28	4	2	34
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)			2			2
splice region			2	1		3
non coding			1		2	3
Total	0	0	33	15	4

Variants in GAL

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

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

Position	Type	Phenotype	Significance	ClinVar
11-68684930-C-T		Familial temporal lobe epilepsy 8	Uncertain significance (Oct 29, 2018)
11-68684932-A-C		Familial temporal lobe epilepsy 8	Likely benign (Jul 31, 2020)
11-68684936-A-G		Familial temporal lobe epilepsy 8	Uncertain significance (Feb 08, 2022)
11-68684939-G-A		Familial temporal lobe epilepsy 8	Uncertain significance (Aug 16, 2022)
11-68684951-G-A		Familial temporal lobe epilepsy 8	Uncertain significance (Apr 13, 2019)
11-68684960-C-T		Familial temporal lobe epilepsy 8	Uncertain significance (Aug 24, 2021)
11-68684965-C-T		Familial temporal lobe epilepsy 8	Likely benign (Jul 31, 2020)
11-68684966-G-A		Familial temporal lobe epilepsy 8 • not specified	Uncertain significance (Aug 31, 2022)
11-68684970-C-T		Familial temporal lobe epilepsy 8 • GAL-related disorder	Benign (Oct 11, 2023)
11-68684978-T-C		Familial temporal lobe epilepsy 8	Uncertain significance (Sep 14, 2018)
11-68684989-G-A		Familial temporal lobe epilepsy 8	Likely benign (Aug 16, 2022)
11-68684994-TCTGGTCGCCGGTAAGTGCGGGGCGCGTCTCCTCCGAGCGAAGGGGA-T		Familial temporal lobe epilepsy 8	Uncertain significance (Oct 30, 2019)
11-68685000-C-T		Familial temporal lobe epilepsy 8	Uncertain significance (Jun 27, 2022)
11-68685004-G-A		not specified	Uncertain significance (Aug 28, 2024)
11-68685012-C-T		Familial temporal lobe epilepsy 8	Likely benign (Jul 19, 2022)
11-68685016-G-A		Familial temporal lobe epilepsy 8	Uncertain significance (Mar 12, 2019)
11-68685592-AG-A		Familial temporal lobe epilepsy 8	Uncertain significance (Dec 02, 2021)
11-68685603-A-G		Familial temporal lobe epilepsy 8	Uncertain significance (Jun 03, 2020)
11-68685618-C-T		Familial temporal lobe epilepsy 8	Likely benign (Jul 25, 2022)
11-68685628-C-A		Familial temporal lobe epilepsy 8	Pathogenic (Jul 10, 2015)
11-68688012-A-G		Familial temporal lobe epilepsy 8	Uncertain significance (Aug 03, 2018)
11-68688017-C-T		Familial temporal lobe epilepsy 8	Uncertain significance (Sep 01, 2021)
11-68688018-C-T		Familial temporal lobe epilepsy 8	Likely benign (Oct 19, 2020)
11-68688019-G-A		Familial temporal lobe epilepsy 8	Likely benign (Jul 12, 2022)
11-68688024-C-G		Familial temporal lobe epilepsy 8	Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GAL	protein_coding	protein_coding	ENST00000265643	5	7397

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000439	0.234	125698	0	39	125737	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0691	82	80.3	1.02	0.00000513	775
Missense in Polyphen		23	26.006	0.88442		275
Synonymous	-0.472	40	36.4	1.10	0.00000235	259
Loss of Function	-0.0910	8	7.73	1.04	5.05e-7	68

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000367	0.000366
Ashkenazi Jewish	0.000930	0.000893
East Asian	0.000334	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000658	0.0000615
Middle Eastern	0.000334	0.000326
South Asian	0.000262	0.000261
Other	0.000173	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. This small neuropeptide may regulate diverse physiologic functions including contraction of smooth muscle of the gastrointestinal and genitourinary tract, growth hormone and insulin release and adrenal secretion. {ECO:0000269|PubMed:1370155, ECO:0000269|PubMed:1722333, ECO:0000269|PubMed:25691535}.
• Disease: DISEASE: Epilepsy, familial temporal lobe, 8 (ETL8) [MIM:616461]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269|PubMed:25691535}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.425

Intolerance Scores

• loftool: 0.761
• rvis_EVS: 0.81
• rvis_percentile_EVS: 87.82

Haploinsufficiency Scores

• pHI: 0.611
• hipred: N
• hipred_score: 0.207

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.265

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gal
• Phenotype: endocrine/exocrine gland 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); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism 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); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: galn
• Affected structure: dorsal root ganglion
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: inflammatory response;G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;nervous system development;feeding behavior;regulation of signaling receptor activity;protein kinase A signaling;cAMP-mediated signaling;insulin secretion;regulation of glucocorticoid metabolic process;response to insulin;response to immobilization stress;response to drug;positive regulation of apoptotic process;response to estrogen;positive regulation of transcription by RNA polymerase II;negative regulation of lymphocyte proliferation;positive regulation of cortisol secretion;positive regulation of timing of catagen;positive regulation of large conductance calcium-activated potassium channel activity;negative regulation of root hair elongation
• Cellular component: extracellular region;extracellular space;Golgi apparatus;secretory granule;neuronal cell body
• Molecular function: galanin receptor activity;neuropeptide hormone activity;protein binding;type 1 galanin receptor binding;type 2 galanin receptor binding;type 3 galanin receptor binding