GAL

Summary

GAL (galanin and GMAP prepropeptide, HGNC:4114) is a protein-coding gene on chromosome 11q13.2, encoding Galanin peptides (P22466). Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3.

This gene encodes a neuroendocrine peptide that is widely expressed in the central and peripheral nervous systems and also the gastrointestinal tract, pancreas, adrenal gland and urogenital tract. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Galanin has diverse physiological functions including nociception, feeding and energy homeostasis, osmotic regulation and water balance. GMAP has been demonstrated to possess antifungal activity and hypothesized to be part of the innate immune system.

Source: NCBI Gene 51083 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial temporal lobe epilepsy 8 (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 77 total — 1 pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_015973

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4114
Approved symbol	GAL
Name	galanin and GMAP prepropeptide
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Aliases	GMAP, GAL-GMAP, GLNN
Ensembl gene	ENSG00000069482
Ensembl biotype	protein_coding
OMIM	137035
Entrez	51083

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000265643, ENST00000538401, ENST00000933453, ENST00000933454, ENST00000933455, ENST00000933456, ENST00000933457, ENST00000933458, ENST00000933459

RefSeq mRNA: 1 — MANE Select: NM_015973 NM_015973

CCDS: CCDS8183

Canonical transcript exons

ENST00000265643 — 6 exons

Exon	Start	End
ENSE00000904480	68684924	68685004
ENSE00001117286	68688014	68688100
ENSE00001117287	68685594	68685648
ENSE00001117289	68688849	68688926
ENSE00001306925	68684544	68684732
ENSE00001326470	68690917	68691175

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 98.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 73.6486 / max 2708.9963, expressed in 971 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115558	68.9054	910
115557	3.9815	634
115559	0.2884	109
115553	0.2335	67
115554	0.0911	43
115555	0.0887	55
115552	0.0422	28
115556	0.0178	6

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	98.92	gold quality
pituitary gland	UBERON:0000007	98.76	gold quality
upper leg skin	UBERON:0004262	98.62	gold quality
mammalian vulva	UBERON:0000997	90.93	gold quality
upper arm skin	UBERON:0004263	90.18	gold quality
hypothalamus	UBERON:0001898	83.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.78	gold quality
decidua	UBERON:0002450	80.56	gold quality
vermiform appendix	UBERON:0001154	79.70	gold quality
caecum	UBERON:0001153	77.19	gold quality
lower esophagus muscularis layer	UBERON:0035833	76.36	gold quality
lower esophagus	UBERON:0013473	76.08	gold quality
endometrium epithelium	UBERON:0004811	75.78	silver quality
sigmoid colon	UBERON:0001159	75.47	gold quality
mucosa of stomach	UBERON:0001199	75.04	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	73.44	gold quality
transverse colon	UBERON:0001157	73.29	gold quality
skin of abdomen	UBERON:0001416	71.86	gold quality
colon	UBERON:0001155	71.75	gold quality
cartilage tissue	UBERON:0002418	71.64	gold quality
rectum	UBERON:0001052	71.32	gold quality
large intestine	UBERON:0000059	70.99	gold quality
nipple	UBERON:0002030	70.66	gold quality
zone of skin	UBERON:0000014	69.95	gold quality
intestine	UBERON:0000160	68.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.45	gold quality
islet of Langerhans	UBERON:0000006	67.15	gold quality
skin of leg	UBERON:0001511	65.89	gold quality
cingulate cortex	UBERON:0003027	65.22	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	491.74
E-GEOD-109979	yes	235.04
E-HCAD-10	yes	5.60
E-MTAB-6524	no	483.18
E-CURD-11	no	11.63
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): APEX1, AR, CREB1, ESR1, FOS, ISL1, MYC, NEUROD1, NEUROD2, NEUROD6, NFIC, NR2F1, POU3F1, POU4F1, PTF1A, SP1, SSRP1, TBP, TBXT, ZNF91

Literature-anchored findings (GeneRIF, showing 40)

• galanin is expressed developmentally in the DRG (PMID:11712539)
• an involvement of GAL in various physiological functions of the gastrointestinal tract (PMID:12471460)
• data suggest a role for endogenous galanin in the adaptive responses to acute orthostatic stress preventing syncope in susceptible individuals (PMID:12647269)
• Galanin is present in human DRGs together with CGRP and substance P, mostly in small neurons. Galanin may mediate processing of sensory information, especially pain, in human DRGs and dorsal horn. (PMID:12654333)
• The involvement of galanin is reviewed in the modulation of such functions as neurotransmitter release, memory, pain, depression, anxiety, obesity, gut motility, neuroendocrine regulation, development and neuroregeneration. (PMID:12769595)
• corticotroph, but not GH adenomas, express high levels of galanin, in addition to ACTH, and in some tumors both polypeptides are synthesised in the same cell population; galanin levels in plasma were not influenced by the tumor galanin content (PMID:14700749)
• human galanin expresses amphipathic properties in the presence of phospholipids which in turn amplifies its vasoactive effects in the intact peripheral microcirculation. (PMID:14706552)
• These galanin-LHRH and LHRH-galanin contacts may be functional synapses, and they may be the morphological substrate of the galanin-controlled gonadal functions in humans. (PMID:15283968)
• Serum galanin concentration in post-menopausal women is related to severity of climacteric syndrome; presence of nervousness in post-menopausal women is related to lower serum galanin level. (PMID:15648541)
• Blood levels correlate with type 2 diabetes and not with obesity or hormonal status in postmenopause. (PMID:15735230)
• mechanistic relationship between amyloidosis and GAL over expression in Alzheimer disease (PMID:15893372)
• We suggest that expression of galanin in the medial and lateral components of the mamillary bodies may be of transient occurrence and may serve a significant role in the synaptogenesis. (PMID:15927790)
• The analyzed single nucleotide polymorphisms in GAL and GALR1 do not play major role in early onset obesity or dietary fat intake in obese children and adolescents. (PMID:15930442)
• The co-expression of galanin and its receptors supports a role for galanin in tumor cell pathology via autocrine/paracrine mechanisms (PMID:15944034)
• There is a haplotype association with alcoholism in both the Finnish (P=0.001) and Plains Indian (P=0.004) men. (PMID:16314872)
• This review presents considerable evidence that has accumulated implicating both galanin and GALP as playing important roles in regulating food and water intake behavior and related neuroendocrine functions. (PMID:16787232)
• polymorphisms in the galanin gene are associated with symptom severity in female patients suffering from panic disorder. (PMID:17573119)
• Developmentally regulated expression of galanin and somatostatin may play a role in liver morphogenesis. (PMID:18196269)
• point to GalR2 as a possible target for therapeuthic interventions in pheochromocytoma (PMID:18272487)
• Galanin fiber hyperinnervation of cholinergic forebrain nucleus basalis neurons upregulates the expression of choline acetyltransferase. (PMID:18322398)
• GAL, coding for the neuropeptide galanin, and GALR1, a galanin receptor, were identified as candidate genes of oncogenesis in squamous cell carcinoma using a survey of parallel chromosomal alterations and gene expression studies in 10 SCC cell lines. (PMID:18973137)
• The common allele of rs2187331, residing in the promoter region of GAL, is significantly associated with hypertriglyceridemia . (PMID:18988886)
• provides substantive evidence that GAL sustains the expression of genes subserving multiple neuroprotective mechanisms in hyperinnervated cholinergic NB neurons compared to nonhyperinnervated neu-ron (PMID:19749437)
• The reported associations in independent samples of Alzheimer Disease and Major Depressive Disorder support an estrogen-dependent function of GAL in pathophysiology of anxiety and depression, affecting response to antidepressant treatment. (PMID:20237460)
• This study suggested that the adenylate GAL related to major depressive disorder. (PMID:21042317)
• acute alcohol withdrawal was associated with decreased galanin serum levels (PMID:21199668)
• Chronic constriction injury results in galanin upregulation in dorsal root ganglion and sciatic nerve, although less in transgenic mice with nuclear factor-kappaB inhibition. (PMID:21352816)
• Study revealed that plasmin was present in tumor tissue, and that it was responsible for processing progalanin to galanin(1-20) in the extracellular environment. (PMID:21707521)
• Analysis in neuroblastoma cells demonstrates that GAL5.1 acts as an enhancer of promoter activity after protein kinase C activation. (PMID:21716262)
• Cerebrospinal fluid levels of total but not free IgG autoantibodies against galanin are increased in patients with Alzheimer’s disease, resulting in increased percentage of galanin autoantibodies present as immune complexes. (PMID:22078238)
• Circulating galanin levels at birth are not affected by GDM and IUGR, providing no evidence for alternations in hypothalamic galanin expression and secretion in humans, as they were previously documented in experimental models. (PMID:22162474)
• The results indicate the continuous presence of GAL-ergic innervation in the immediate vicinity of the cancer invasion, which may be attributed to increased contraction of the affected part of intestine. (PMID:22226150)
• Moreover, we have identified a novel role for the GalR1/galanin receptor-ligand axis in chemoresistance, providing evidence to support its further evaluation as a potential therapeutic target and biomarker in colorectal cancer . (PMID:22859720)
• These results suggest that the activation of progalanin by plasmin in the extracellular compartment was involved in MMP-9 and MMP-2 activation and in angiogenesis in tumor tissue. (PMID:23261456)
• Galanin has a role in regulating eccrine sweat gland secretion (PMID:23278944)
• localization of the transcripts for galanin and its receptors (GalR1-R3), tryptophan hydroxylase 2, tyrosine hydroxylase, nitric oxide synthase and the three vesicular glutamate transporters (VGLUT 1-3) in the locus coeruleus and the dorsal raphe nucleus (PMID:23341594)
• The SNPs of rs694066 in the GAL gene showed a positive correlation with the major depressive disorder in the Chinese Han population. (PMID:23741354)
• Galanin plays a crucial role in inhibiting insulin secretion from pancreatic beta cells to prevent hyperinsulinemia, which is a characteristic of type 2 diabetes mellitus. [review] (PMID:24106965)
• Data suggest that plasma levels of galanin and interleukin-6 are up-regulated in second trimester in women with gestational diabetes (glucose intolerant/insulin resistant) as compared to normal pregnant women (with normal glucose/insulin tolerance). (PMID:24397394)
• The plasma galanin levels are higher in patients with gestational diabetes mellitus than in normal pregnancy. (PMID:24503374)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gal	ENSDARG00000091377
mus_musculus	Gal	ENSMUSG00000024907
rattus_norvegicus	Gal	ENSRNOG00000015156

Protein

Protein identifiers

Galanin peptides — P22466 (reviewed: P22466)

All UniProt accessions (1): P22466

UniProt curated annotations — full annotation on UniProt →

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.

Subcellular location. Secreted.

Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the galanin family.

RefSeq proteins (1): NP_057057* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008174	Galanin	Domain
IPR008175	Galanin_pre	Family
IPR013068	GMAP	Domain

Pfam: PF01296, PF06540

UniProt features (12 total): helix 2, peptide 2, modified residue 2, sequence variant 2, signal peptide 1, propeptide 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
7WQ4	ELECTRON MICROSCOPY	2.6
7WQ3	ELECTRON MICROSCOPY	2.7
7XBD	ELECTRON MICROSCOPY	3.11
7XJJ	ELECTRON MICROSCOPY	3.3
7XJK	ELECTRON MICROSCOPY	3.3
7S3O	SOLUTION NMR
7S3Q	SOLUTION NMR
7S3R	SOLUTION NMR
8DHZ	SOLUTION NMR
8DJ4	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P22466-F1	66.67	0.07

Antibody-complex structures (SAbDab): 5 — 7WQ3, 7WQ4, 7XBD, 7XJJ, 7XJK

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 116, 117

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-375276	Peptide ligand-binding receptors
R-HSA-418594	G alpha (i) signalling events

MSigDB gene sets: 261 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_RESPONSE_TO_ETHANOL, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_BEHAVIOR, GOBP_RESPONSE_TO_IMMOBILIZATION_STRESS, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_GLUCOCORTICOID_METABOLIC_PROCESS, GOBP_ADULT_BEHAVIOR, GOBP_INSULIN_SECRETION

GO Biological Process (23): signal transduction (GO:0007165), neuropeptide signaling pathway (GO:0007218), nervous system development (GO:0007399), locomotory behavior (GO:0007626), response to xenobiotic stimulus (GO:0009410), obsolete protein kinase A signaling (GO:0010737), insulin secretion (GO:0030073), regulation of glucocorticoid metabolic process (GO:0031943), response to insulin (GO:0032868), response to immobilization stress (GO:0035902), drinking behavior (GO:0042756), positive regulation of apoptotic process (GO:0043065), response to estrogen (GO:0043627), positive regulation of transcription by RNA polymerase II (GO:0045944), behavioral response to ethanol (GO:0048149), negative regulation of lymphocyte proliferation (GO:0050672), positive regulation of cortisol secretion (GO:0051464), positive regulation of timing of catagen (GO:0051795), parental behavior (GO:0060746), response to peptide (GO:1901652), feeding behavior (GO:0007631), negative regulation of cell population proliferation (GO:0008285), positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)

GO Molecular Function (8): galanin receptor activity (GO:0004966), neuropeptide hormone activity (GO:0005184), galanin receptor binding (GO:0031763), type 1 galanin receptor binding (GO:0031764), type 2 galanin receptor binding (GO:0031765), type 3 galanin receptor binding (GO:0031766), hormone activity (GO:0005179), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), secretory granule (GO:0030141), neuronal cell body (GO:0043025)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Class A/1 (Rhodopsin-like receptors)	1
GPCR downstream signalling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
galanin receptor binding	3
response to chemical	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor signaling pathway	1
system development	1
behavior	1
protein secretion	1
peptide hormone secretion	1
glucocorticoid metabolic process	1
regulation of steroid metabolic process	1
regulation of hormone metabolic process	1
response to peptide hormone	1
response to stress	1
feeding behavior	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
response to hormone	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
adult behavior	1
response to ethanol	1
negative regulation of mononuclear cell proliferation	1
lymphocyte proliferation	1
regulation of lymphocyte proliferation	1
negative regulation of lymphocyte activation	1
cortisol secretion	1
regulation of cortisol secretion	1
positive regulation of glucocorticoid secretion	1
catagen	1
positive regulation of hair follicle maturation	1
regulation of timing of catagen	1
reproductive behavior	1
neuropeptide receptor activity	1
hormone activity	1

Protein interactions and networks

STRING

1084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAL	GALR3	O60755	999
GAL	GALR2	O43603	999
GAL	GALR1	P47211	999
GAL	NPY	P01303	983
GAL	TAC1	P20366	945
GAL	GALP	Q9UBC7	943
GAL	VIP	P01282	923
GAL	SST	P01166	900
GAL	CCK	P06307	864
GAL	OXT	P01178	853
GAL	HCRT	O43612	845
GAL	NTS	P30990	840
GAL	FFAR3	O14843	837
GAL	GPR151	Q8TDV0	836
GAL	TH	P07101	829

IntAct

45 interactions, top by confidence:

A	B	Type	Score
GAL	SGTA	psi-mi:“MI:0915”(physical association)	0.720
SGTA	GAL	psi-mi:“MI:0915”(physical association)	0.720
GAL	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
GAL	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
GAL	ASPH	psi-mi:“MI:0915”(physical association)	0.560
AKT1	GAL	psi-mi:“MI:0915”(physical association)	0.560
BDNF	GAL	psi-mi:“MI:0915”(physical association)	0.560
CBS	GAL	psi-mi:“MI:0915”(physical association)	0.560
STUB1	GAL	psi-mi:“MI:0915”(physical association)	0.560
MGAT4C	GXYLT2	psi-mi:“MI:0914”(association)	0.530
FCGRT	GOLIM4	psi-mi:“MI:0914”(association)	0.530
MMP10	TIMP1	psi-mi:“MI:0914”(association)	0.530
GAL	HLA-DPA1	psi-mi:“MI:0914”(association)	0.530
GAL	PREP1	psi-mi:“MI:0414”(enzymatic reaction)	0.440
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CEACAM21	MET	psi-mi:“MI:0914”(association)	0.350
CSTL1	DENND11	psi-mi:“MI:0914”(association)	0.350

BioGRID (31): GAL (Two-hybrid), GAL (Affinity Capture-MS), GAL (Affinity Capture-MS), GAL (Affinity Capture-MS), GAL (Affinity Capture-MS), GAL (Affinity Capture-MS), GAL (Affinity Capture-MS), GAL (Affinity Capture-MS), SGTA (Two-hybrid), UBQLN1 (Two-hybrid), UBQLN2 (Two-hybrid), ASPH (Two-hybrid), ZMYND19 (Affinity Capture-MS), GAL (Affinity Capture-MS), GAL (Affinity Capture-MS)

ESM2 similar proteins: A0NDK8, A8CL69, B2ZB95, B2ZB96, B2ZB98, B2ZB99, B2ZBA0, B2ZBA1, C0HKT1, C3Z6E6, E2ARW3, E2AYH6, E3PQQ8, G5EFN6, P01360, P01361, P01362, P06518, P07712, P09040, P12285, P17640, P17685, P17686, P19713, P22466, P33745, P49794, P56942, P61364, P61365, P81829, Q00676, Q16N80, Q17AN4, Q26377, Q299B0, Q29KK2, Q4V4I9, Q5W1L3

Diamond homologs: E7EZ53, P07480, P10683, P11242, P22466, P30802, P31234, P33710, P47212, P47213, P47214, P47215, P47216, Q9W6M9, Q9UBC7, Q9QXQ6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GAL	up-regulates	GALR2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 30 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	5	34.9×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

77 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	50
Likely benign	16
Benign	5

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
372128	NM_015973.5(GAL):c.116C>A (p.Ala39Glu)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

789 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:68685614:G:C	W34C	0.997
11:68685614:G:T	W34C	0.997
11:68685612:T:A	W34R	0.996
11:68685612:T:C	W34R	0.996
11:68685624:A:C	S38R	0.994
11:68685626:C:A	S38R	0.994
11:68685626:C:G	S38R	0.994
11:68685623:C:A	N37K	0.988
11:68685623:C:G	N37K	0.988
11:68685622:A:T	N37I	0.985
11:68685631:G:A	G40D	0.982
11:68685642:G:C	G44R	0.982
11:68685633:T:C	Y41H	0.981
11:68685625:G:A	S38N	0.980
11:68685628:C:A	A39E	0.980
11:68685625:G:T	S38I	0.979
11:68685616:C:T	T35I	0.976
11:68685634:A:G	Y41C	0.976
11:68685609:G:C	G33R	0.975
11:68685613:G:C	W34S	0.975
11:68685630:G:C	G40R	0.975
11:68685630:G:T	G40C	0.974
11:68685642:G:T	G44C	0.973
11:68685610:G:A	G33D	0.972
11:68685631:G:T	G40V	0.971
11:68685615:A:G	T35A	0.970
11:68685643:G:A	G44D	0.969
11:68685643:G:T	G44V	0.965
11:68685622:A:C	N37T	0.964
11:68685637:T:C	L42P	0.964

dbSNP variants (sampled 300 via entrez): RS1000062391 (11:68686878 G>C), RS1000864600 (11:68688312 A>G), RS1000973056 (11:68682645 C>T), RS1001057968 (11:68687685 C>G), RS1001607491 (11:68684132 G>A), RS1001625895 (11:68685993 C>G), RS1001661383 (11:68684275 G>A,T), RS1001908439 (11:68691073 G>T), RS1002455455 (11:68687750 C>A,G,T), RS1003405595 (11:68684619 C>A,G), RS1003424024 (11:68690015 C>T), RS1003584412 (11:68689750 G>T), RS1003700249 (11:68684732 G>A), RS1004147584 (11:68684794 C>T), RS1004198385 (11:68690186 A>G,T)

Disease associations

OMIM: gene MIM:137035 | disease phenotypes: MIM:616461

GenCC curated gene-disease

Disease	Classification	Inheritance
familial temporal lobe epilepsy 8	Limited	Autosomal dominant

Mondo (1): familial temporal lobe epilepsy 8 (MONDO:0014650)

Orphanet (1): Epilepsy with auditory features (Orphanet:101046)

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0002384	Focal impaired awareness seizure
HP:0003621	Juvenile onset
HP:0007334	Bilateral tonic-clonic seizure with focal onset
HP:0012005	Deja vu aura
HP:0032705	Focal aware cognitive seizure with forced thinking
HP:0032785	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
HP:0032864	Focal aware sensory seizure with auditory features

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007641_1	Femoral neck section modulus	4.000000e-11
GCST008163_142	Height	8.000000e-06
GCST012020_221	Serum metabolite levels	2.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004511	femoral neck bone geometry

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Binding affinities (BindingDB)

1 measured of 3 human assays (3 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
SR 147778	KI	1000 nM

CTD chemical–gene interactions

85 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects expression, affects cotreatment, decreases expression, increases expression	6
sodium arsenite	increases abundance, affects methylation, affects cotreatment, increases expression, decreases expression	4
Valproic Acid	affects expression, increases expression, increases methylation	4
Tretinoin	affects cotreatment, increases expression, decreases expression	3
manganese chloride	increases abundance, increases expression, affects cotreatment	2
potassium chromate(VI)	affects cotreatment, increases expression	2
mercuric bromide	affects cotreatment, decreases expression	2
entinostat	affects cotreatment, increases expression	2
Ethanol	increases expression, affects reaction, affects cotreatment, decreases expression	2
Manganese	increases abundance, increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	increases expression	2
Tetrachlorodibenzodioxin	decreases expression, affects cotreatment	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	increases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
tributyltin	increases activity	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression, affects cotreatment	1
ochratoxin A	increases activity	1
3,8-dihydroxy-6H-dibenzo(b,d)pyran-6-one	increases activity	1
nickel sulfate	decreases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
pentanal	increases expression	1
chromium hexavalent ion	increases expression	1
seocalcitol	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1SM	Abcam HeLa GAL KO	Cancer cell line	Female
CVCL_D7GH	Ubigene HEK293T GAL KO	Transformed cell line	Female
CVCL_D8LU	Ubigene HCT 116 GAL KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.