GAL
galanin and GMAP prepropeptide, the group of Neuropeptides
Basic information
Region (hg38): 11:68683779-68691175
Previous symbols: [ "GALN" ]
Links
Phenotypes
GenCC
Source:
- familial temporal lobe epilepsy 8 (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| 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
- Familial_temporal_lobe_epilepsy_8 (51 variants)
- not_specified (17 variants)
- not_provided (8 variants)
- GAL-related_disorder (3 variants)
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. These statistics are base on transcript: NM_000015973.5. 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 | 11 | 12 | ||||
| missense | 32 | 39 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 3 | |||||
| Total | 1 | 0 | 38 | 14 | 3 |
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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
- ghis
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