DLGAP1

Summary

DLGAP1 (DLG associated protein 1, HGNC:2905) is a protein-coding gene on chromosome 18p11.31, encoding Disks large-associated protein 1 (O14490). Part of the postsynaptic scaffold in neuronal cells.

Predicted to enable molecular adaptor activity. Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in several processes, including aggresome assembly; protein localization to synapse; and regulation of proteasomal protein catabolic process. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component.

Source: NCBI Gene 9229 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 169 total — 2 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_004746

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2905
Approved symbol	DLGAP1
Name	DLG associated protein 1
Location	18p11.31
Locus type	gene with protein product
Status	Approved
Aliases	GKAP, SAPAP1, DAP-1
Ensembl gene	ENSG00000170579
Ensembl biotype	protein_coding
OMIM	605445
Entrez	9229

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 12 protein_coding, 10 protein_coding_CDS_not_defined

ENST00000315677, ENST00000400145, ENST00000400147, ENST00000400149, ENST00000400150, ENST00000400155, ENST00000478161, ENST00000484845, ENST00000485480, ENST00000486430, ENST00000498188, ENST00000515196, ENST00000534970, ENST00000539435, ENST00000577430, ENST00000578250, ENST00000579652, ENST00000581527, ENST00000581550, ENST00000581699, ENST00000582051, ENST00000706956

RefSeq mRNA: 29 — MANE Select: NM_004746 NM_001003809, NM_001242761, NM_001242762, NM_001242763, NM_001242764, NM_001242765, NM_001242766, NM_001308390, NM_001398525, NM_001398526, NM_001398527, NM_001398528, NM_001398530, NM_001398531, NM_001398532, NM_001398533, NM_001398534, NM_001398535, NM_001398536, NM_001398537, NM_001398539, NM_001398540, NM_001398541, NM_001398542, NM_001398543, NM_001398544, NM_001398545, NM_001398546, NM_004746

CCDS: CCDS11836, CCDS42406, CCDS56049, CCDS56050, CCDS56051, CCDS56052, CCDS56053, CCDS74191, CCDS77146

Canonical transcript exons

ENST00000315677 — 13 exons

Exon	Start	End
ENSE00001146913	3567490	3567581
ENSE00001146935	3581875	3582248
ENSE00001146942	3502493	3502645
ENSE00001162484	3534194	3534615
ENSE00001162508	3508570	3508661
ENSE00001541775	3496032	3499394
ENSE00002061437	4005116	4005201
ENSE00002230141	3879112	3880140
ENSE00002696900	4151180	4151287
ENSE00002709492	4455006	4455307
ENSE00003470234	3742335	3742512
ENSE00003475910	3729135	3729375
ENSE00003678705	3814059	3814273

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 96.99.

FANTOM5 (CAGE): breadth broad, TPM avg 9.9289 / max 1679.3729, expressed in 462 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171061	3.0790	85
171085	2.6615	364
171066	1.1514	130
171086	0.5393	148
171084	0.5311	224
171060	0.4988	54
171070	0.3607	50
171067	0.2272	51
171071	0.2230	46
171065	0.1469	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	96.99	gold quality
endothelial cell	CL:0000115	96.60	gold quality
primary visual cortex	UBERON:0002436	96.06	gold quality
occipital lobe	UBERON:0002021	95.63	gold quality
cortical plate	UBERON:0005343	94.94	gold quality
prefrontal cortex	UBERON:0000451	94.80	gold quality
pons	UBERON:0000988	94.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.96	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.34	gold quality
parietal lobe	UBERON:0001872	92.79	gold quality
superior frontal gyrus	UBERON:0002661	92.75	gold quality
frontal cortex	UBERON:0001870	92.41	gold quality
frontal lobe	UBERON:0016525	92.39	gold quality
right frontal lobe	UBERON:0002810	92.24	gold quality
neocortex	UBERON:0001950	92.22	gold quality
cerebral cortex	UBERON:0000956	91.72	gold quality
ganglionic eminence	UBERON:0004023	91.67	gold quality
postcentral gyrus	UBERON:0002581	91.63	gold quality
cerebellar cortex	UBERON:0002129	91.04	gold quality
cerebellar hemisphere	UBERON:0002245	90.98	gold quality
entorhinal cortex	UBERON:0002728	90.72	gold quality
cingulate cortex	UBERON:0003027	90.70	gold quality
cerebellum	UBERON:0002037	90.63	gold quality
anterior cingulate cortex	UBERON:0009835	90.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.18	gold quality
ventricular zone	UBERON:0003053	89.11	gold quality
temporal lobe	UBERON:0001871	88.88	gold quality
telencephalon	UBERON:0001893	88.60	gold quality
Ammon’s horn	UBERON:0001954	88.28	gold quality
amygdala	UBERON:0001876	87.69	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	5406.40
E-HCAD-30	yes	4553.59
E-HCAD-25	yes	4205.03
E-GEOD-180759	yes	4200.89
E-GEOD-93593	yes	19.04
E-MTAB-6678	yes	8.30
E-ANND-3	yes	8.04

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SOX2

miRNA regulators (miRDB)

209 targeting DLGAP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-15A-5P	99.90	72.80	2787

Literature-anchored findings (GeneRIF, showing 18)

• The GKAP controls the forces operating on microtubules and play a fundamental role in centrosome positioning and cell polarity. (PMID:21041448)
• dlgap1 showed the highest association, of snps examined, with ocd. (PMID:22889921)
• Study identified six genetic variants, (rs145691437, rs3786431, rs201567254, rs3745051 and rs11662259) and one rare missense mutation (c.1922A>G). SNP- and haplotype-based analyses showed no association of these SNPs with schizophrenia. (PMID:22940546)
• Results show that the expression and distribution of NMDA receptors subunits GluN1, GluN2A and GluN2B - together with that of postsynaptic protein PSD-95 - are modified in Alzheimer’s disease compared to normal aging (PMID:24156266)
• This study showed that DLGAP1 association with obsessive-compulsive disorder. (PMID:24821223)
• Dimerization of DLC2 was required for its interaction with GKAP, which, in turn, potentiated GKAP self-association. (PMID:24938595)
• These results strongly suggested involvement of the DLGAP1 gene product in the development of HIV-related lipoatrophy in Thai HIV patients. (PMID:25950743)
• This study revealed a significant variant (rs12455524) within the gene DLGAP1 for Recurrent major depression. (PMID:26485182)
• The top SNP rs2049161 involved gene DLGAP1 and the top gene CADPS2 in the gene-based analysis resulted in much literature evidence of associations with psychiatric disorders. Gene expression and network analysis showed their contribution to cognition function. (PMID:28971736)
• Association of two significant SNPs of DLGAP1 with cognitive flexibility in Attention Deficit Hyperactivity Disorder was observed. (PMID:29484270)
• Study presents evidence that the expression of GKAP modulates the activity of the glutamate-to-NMDAR signaling pathway and promotes invasiveness in mouse neuroendocrine (PanNET) and in both mouse and human ductal (PDAC) cancer cell lines. (PMID:29606348)
• We demonstrated that miR-148a was upregulated, DLGAP1 was downregulated in glioblastoma, and DLGAP1 was a direct target of miR-148a. (PMID:31477833)
• LncRNA DLGAP1-AS2 modulates glioma development by up-regulating YAP1 expression. (PMID:31899508)
• A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population. (PMID:34593835)
• N(6)-methyladenosine (m(6)A)-mediated lncRNA DLGAP1-AS1enhances breast canceradriamycin resistance through miR-299-3p/WTAP feedback loop. (PMID:34866525)
• DLGAP1-AS2 promotes estrogen receptor signalling and confers tamoxifen resistance in breast cancer. (PMID:35449318)
• Whole Genome Linkage and Association Analyses Identify DLG Associated Protein-1 as a Novel Positional and Biological Candidate Gene for Muscle Strength: The Long Life Family Study. (PMID:38808484)
• Deciphering the Role of miR-30a-5p and DLGAP1 Gene in Non-small Cell Lung Cancer. (PMID:38821626)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dlgap1a	ENSDARG00000014280
danio_rerio	dlgap1b	ENSDARG00000037415
mus_musculus	Dlgap1	ENSMUSG00000003279
rattus_norvegicus	Dlgap1	ENSRNOG00000016196

Paralogs (4): DLGAP4 (ENSG00000080845), DLGAP3 (ENSG00000116544), DLGAP5 (ENSG00000126787), DLGAP2 (ENSG00000198010)

Protein

Protein identifiers

Disks large-associated protein 1 — O14490 (reviewed: O14490)

Alternative names: Guanylate kinase-associated protein, PSD-95/SAP90-binding protein 1, SAP90/PSD-95-associated protein 1

All UniProt accessions (5): O14490, A0A0A0MTP4, A0A9L9PY43, A8MXQ8, A8MYR7

UniProt curated annotations — full annotation on UniProt →

Function. Part of the postsynaptic scaffold in neuronal cells.

Subunit / interactions. Interacts with guanylate kinase-like domain of DLG1, DLG2, DLG3, DLG4 and AIP1. Interacts with the PDZ domain of SHANK1, SHANK2 and SHANK3. Found in a complex with DLG4 and SHANK1, SHANK2 or SHANK3. Found in a complex with DLG4 and BEGAIN. Interacts with DYL2 and LRFN1. Interacts with MPP2 (via the SH3-Guanylate kinase-like sub-module).

Subcellular location. Cell membrane. Postsynaptic density. Synapse.

Tissue specificity. Expressed in brain.

Post-translational modifications. Ubiquitinated by TRIM3; leading to proteasomal degradation.

Similarity. Belongs to the SAPAP family.

Isoforms (7)

UniProt ID	Names	Canonical?
O14490-1	1, DAP1-alpha	yes
O14490-2	2, DAP1-beta
O14490-3	3
O14490-4	4
O14490-5	5
O14490-6	6
O14490-7	7

RefSeq proteins (29): NP_001003809, NP_001229690, NP_001229691, NP_001229692, NP_001229693, NP_001229694, NP_001229695, NP_001295319, NP_001385454, NP_001385455, NP_001385456, NP_001385457, NP_001385459, NP_001385460, NP_001385461, NP_001385462, NP_001385463, NP_001385464, NP_001385465, NP_001385466, NP_001385468, NP_001385469, NP_001385470, NP_001385471, NP_001385472, NP_001385473, NP_001385474, NP_001385475, NP_004737* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005026	SAPAP	Family

Pfam: PF03359

UniProt features (50 total): modified residue 21, splice variant 12, region of interest 5, sequence conflict 3, compositionally biased region 3, strand 2, chain 1, sequence variant 1, helix 1, short sequence motif 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6TNQ	X-RAY DIFFRACTION	1.3
6TQ0	X-RAY DIFFRACTION	1.95
5YPO	X-RAY DIFFRACTION	2.29

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14490-F1	50.85	0.11

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 (21): 169, 356, 359, 362, 366, 383, 412, 415, 419, 422, 431, 503, 510, 562, 563, 565, 589, 590, 592, 595 …

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6794361	Neurexins and neuroligins

MSigDB gene sets: 147 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, MODULE_92, FISCHER_G1_S_CELL_CYCLE, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_SYNAPTIC_SIGNALING, ACCGAGC_MIR423, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, BLALOCK_ALZHEIMERS_DISEASE_DN, MYB_Q6, YOSHIMURA_MAPK8_TARGETS_UP, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME2

GO Biological Process (3): chemical synaptic transmission (GO:0007268), modulation of chemical synaptic transmission (GO:0050804), signaling (GO:0023052)

GO Molecular Function (3): protein-containing complex binding (GO:0044877), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (6): plasma membrane (GO:0005886), postsynaptic density (GO:0014069), glutamatergic synapse (GO:0098978), postsynaptic specialization (GO:0099572), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein-protein interactions at synapses	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
anterograde trans-synaptic signaling	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
regulation of biological process	1
molecular_function	1
membrane	1
cell periphery	1
asymmetric synapse	1
postsynaptic specialization	1
synapse	1
organelle	1
postsynapse	1
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

26 interactions, top by confidence:

A	B	Type	Score
DLGAP1	DLG4	psi-mi:“MI:0915”(physical association)	0.590
DLG4	DLGAP1	psi-mi:“MI:0407”(direct interaction)	0.590
DLGAP1	DLG4	psi-mi:“MI:0407”(direct interaction)	0.590
GRB2	DLGAP1	psi-mi:“MI:0915”(physical association)	0.570
DLGAP1	SHANK3	psi-mi:“MI:0915”(physical association)	0.550
DLGAP1	SHANK3	psi-mi:“MI:0403”(colocalization)	0.550
Dlg1	DLGAP1	psi-mi:“MI:0407”(direct interaction)	0.440
ABL1	DLGAP1	psi-mi:“MI:0915”(physical association)	0.400
CRK	DLGAP1	psi-mi:“MI:0915”(physical association)	0.400
SRC	DLGAP1	psi-mi:“MI:0915”(physical association)	0.400
DLGAP1	FYN	psi-mi:“MI:0915”(physical association)	0.400
DLGAP1	NCK1	psi-mi:“MI:0915”(physical association)	0.400
PIK3R1	DLGAP1	psi-mi:“MI:0915”(physical association)	0.400
DLGAP1	PLCG1	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350
GRB2	DLGAP1	psi-mi:“MI:0915”(physical association)	0.000
ITSN1	DLGAP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (61): DLGAP1 (Affinity Capture-Western), DLGAP1 (Co-crystal Structure), DLGAP1 (Two-hybrid), DLGAP1 (Two-hybrid), DLGAP1 (Two-hybrid), MAGEA11 (Two-hybrid), MAGI2 (Two-hybrid), DYNLL2 (Two-hybrid), DYNLL1 (Two-hybrid), DLGAP1 (Two-hybrid), DYNLL2 (Reconstituted Complex), DYNLL2 (Affinity Capture-Western), DLGAP1 (Affinity Capture-Western), MYO5A (Reconstituted Complex), DYNLL1 (Reconstituted Complex)

ESM2 similar proteins: A0A1L8ER70, A1L253, A2AHC3, A5WUN7, B1AZP2, D4AEC2, O14490, P28290, P62024, P97836, P97839, Q148W8, Q14CH0, Q2KI52, Q2M3X8, Q3ZBW7, Q4KM62, Q4R2Y2, Q4R707, Q52KF3, Q5PQL8, Q5R3Z9, Q5RD34, Q5RJX2, Q5VUB5, Q5VZP5, Q5XII9, Q6GLU8, Q6NSV7, Q6P995, Q6PEI3, Q6RFY2, Q7T3E8, Q8BJ42, Q8BYK5, Q8C1B1, Q922B9, Q95X94, Q96BN6, Q96KR7

Diamond homologs: B1AZP2, O14490, O95886, P97836, P97837, P97838, P97839, Q15398, Q6PFD5, Q7K3L1, Q7ZYZ6, Q8BJ42, Q8K4R9, Q9D415, Q9P1A6, Q9Y2H0

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
DLG4	“up-regulates activity”	DLGAP1	relocalization
DLGAP1	“up-regulates activity”	DLG4	binding
DLGAP1	“up-regulates activity”	SHANK1	relocalization
DLGAP1	“up-regulates activity”	SHANK2	relocalization
DLGAP1	“up-regulates activity”	SHANK3	relocalization
CDK5	“down-regulates quantity by destabilization”	DLGAP1	phosphorylation
CAMK2A	“down-regulates quantity by destabilization”	DLGAP1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 13 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Downstream signal transduction	6	228.4×	1e-11
FCGR3A-mediated phagocytosis	6	112.3×	6e-10
VEGFA-VEGFR2 Pathway	5	69.6×	3e-07
RAF/MAP kinase cascade	5	30.5×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
ephrin receptor signaling pathway	5	156.3×	3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	119
Likely benign	20
Benign	13

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1808701	GRCh37/hg19 18p11.32-11.31(chr18:2255007-4488934)x1	Pathogenic
443762	GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3	Pathogenic
997078	GRCh37/hg19 18p11.31(chr18:3635929-3890654)	Likely pathogenic

SpliceAI

5842 predictions. Top by Δscore:

Variant	Effect	Δscore
18:3502492:CCTT:C	donor_gain	1.0000
18:3502495:T:A	donor_gain	1.0000
18:3502644:TTCTG:T	acceptor_loss	1.0000
18:3502645:TCTG:T	acceptor_loss	1.0000
18:3502646:C:CC	acceptor_gain	1.0000
18:3502646:C:G	acceptor_loss	1.0000
18:3502647:T:C	acceptor_loss	1.0000
18:3508568:A:AC	donor_gain	1.0000
18:3508569:C:CC	donor_gain	1.0000
18:3508662:C:CA	acceptor_loss	1.0000
18:3508662:C:CC	acceptor_gain	1.0000
18:3534188:A:AC	donor_gain	1.0000
18:3534189:C:CC	donor_gain	1.0000
18:3534189:CTTA:C	donor_gain	1.0000
18:3534190:TTACT:T	donor_loss	1.0000
18:3534191:TACTG:T	donor_loss	1.0000
18:3534192:A:AC	donor_gain	1.0000
18:3534192:ACTGT:A	donor_gain	1.0000
18:3534193:C:CC	donor_gain	1.0000
18:3534193:C:T	donor_loss	1.0000
18:3534193:CT:C	donor_gain	1.0000
18:3534193:CTG:C	donor_gain	1.0000
18:3534193:CTGT:C	donor_gain	1.0000
18:3534193:CTGTC:C	donor_gain	1.0000
18:3534616:C:CC	acceptor_gain	1.0000
18:3534617:T:C	acceptor_gain	1.0000
18:3534617:T:TC	acceptor_gain	1.0000
18:3567483:GACTT:G	donor_loss	1.0000
18:3567485:CT:C	donor_loss	1.0000
18:3567486:TTA:T	donor_loss	1.0000

AlphaMissense

6456 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:3502545:A:G	L891P	1.000
18:3502587:A:G	L877P	1.000
18:3502595:C:A	W874C	1.000
18:3502595:C:G	W874C	1.000
18:3502597:A:G	W874R	1.000
18:3502597:A:T	W874R	1.000
18:3534256:C:G	R806P	1.000
18:3534274:A:G	L800P	1.000
18:3534277:A:G	L799P	1.000
18:3814206:A:G	M342T	1.000
18:3879622:G:C	F149L	1.000
18:3879622:G:T	F149L	1.000
18:3879623:A:G	F149S	1.000
18:3879624:A:G	F149L	1.000
18:3879635:A:T	V145D	1.000
18:3879647:A:G	L141P	1.000
18:3879656:A:G	I138T	1.000
18:3499207:G:T	P971H	0.999
18:3499216:A:C	I968S	0.999
18:3502520:C:A	W899C	0.999
18:3502520:C:G	W899C	0.999
18:3502522:A:G	W899R	0.999
18:3502522:A:T	W899R	0.999
18:3502553:A:C	F888L	0.999
18:3502553:A:T	F888L	0.999
18:3502554:A:G	F888S	0.999
18:3502555:A:G	F888L	0.999
18:3502584:T:G	Q878P	0.999
18:3502587:A:C	L877R	0.999
18:3502596:C:G	W874S	0.999

dbSNP variants (sampled 300 via entrez): RS1000002334 (18:3825422 T>C), RS1000003977 (18:4236364 T>C), RS1000008422 (18:3987106 G>A,T), RS1000010537 (18:3818351 T>A,G), RS1000011692 (18:4456008 T>A), RS1000013599 (18:4371106 T>C), RS1000026377 (18:3734864 A>C,T), RS1000026975 (18:3691520 C>T), RS1000029690 (18:4377805 T>C), RS1000034170 (18:3713874 T>C), RS1000036332 (18:4444998 G>A), RS1000038082 (18:4025244 A>C), RS1000038468 (18:3731858 G>T), RS1000042117 (18:3936298 C>A), RS1000048312 (18:3945688 T>C)

Disease associations

OMIM: gene MIM:605445 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): myopathy (MONDO:0005336)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST001511_5	Economic and political preferences (time)	1.000000e-06
GCST001644_4	Eating disorders	5.000000e-06
GCST001762_135	Obesity-related traits	7.000000e-06
GCST001776_16	Cardiac Troponin-T levels	9.000000e-06
GCST002541_114	Menarche (age at onset)	5.000000e-11
GCST003448_2	Erythrocyte cadmium concentration in never smokers	6.000000e-09
GCST003487_8	Response to fenofibrate (total cholesterol levels)	5.000000e-06
GCST003993_13	Menarche (age at onset)	5.000000e-08
GCST004285_3	Midgestational circulating levels of PBDEs	3.000000e-07
GCST006522_22	Upper eyelid sagging severity	6.000000e-07
GCST006522_8	Upper eyelid sagging severity	2.000000e-08
GCST006633_34	Initial alcohol sensitivity	3.000000e-07
GCST007385_26	Plasma free amino acid levels	3.000000e-08
GCST008154_20	Trunk fat mass	2.000000e-06
GCST008154_21	Trunk fat mass	2.000000e-06
GCST008156_88	Hip circumference adjusted for BMI	6.000000e-06
GCST008157_24	Body fat mass	8.000000e-06
GCST008157_5	Body fat mass	6.000000e-06
GCST008173_8	Alanine aminotransferase levels	9.000000e-06
GCST010396_172	Gut microbiota (bacterial taxa, hurdle binary method)	3.000000e-06
GCST90000255_2	Severe COVID-19 infection with respiratory failure (analysis I)	1.000000e-07
GCST90002392_38	Mean corpuscular volume	4.000000e-10
GCST90002396_650	Mean reticulocyte volume	8.000000e-11
GCST90002396_651	Mean reticulocyte volume	1.000000e-10
GCST90002397_381	Mean spheric corpuscular volume	2.000000e-09
GCST90002397_382	Mean spheric corpuscular volume	5.000000e-11
GCST90026416_11	Mild age-related type 2 diabetes	3.000000e-06

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004827	economic and social preference
EFO:0004626	IGFBP-3 measurement
EFO:0005043	cardiac troponin T measurement
EFO:0004703	age at menarche
EFO:0007806	total cholesterol change measurement
EFO:0007961	polybrominated biphenyl measurement
EFO:0007962	polybrominated diphenyl ether measurement
EFO:0007964	gestational serum measurement
EFO:0005134	amino acid measurement
EFO:0009765	alanine measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007874	gut microbiome measurement
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs8092654	DLGAP1		0.00	0
rs281018	DLGAP1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
Cadmium	decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	decreases expression, decreases methylation	2
Aflatoxin B1	decreases expression, decreases methylation	2
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
trichostatin A	decreases expression, increases expression	1
dimethylselenide	increases expression, increases oxidation	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation, increases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Amphotericin B	decreases expression, increases expression	1
Calcitriol	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Lead	affects expression	1
Lipopolysaccharides	decreases expression, decreases reaction	1
Methapyrilene	affects methylation	1
Methyl Methanesulfonate	decreases expression	1
Ozone	increases expression, increases oxidation	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT00549029	Not specified	UNKNOWN	The Association of Genetic Polymorphisms With Statin-Induced Myopathy.
NCT00767130	Not specified	UNKNOWN	DNA Diagnostic System for Statin Safety and Efficacy
NCT00922428	Not specified	COMPLETED	PASCOE-Agil HOM-Injektopas in the Treatment of Rheumatic Disorders
NCT00937001	Not specified	ACTIVE_NOT_RECRUITING	Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
NCT00990834	Not specified	WITHDRAWN	Muscle Characteristics Associated With Statin Therapy
NCT01022450	Not specified	UNKNOWN	Study of the Causes of the Breakdown of Muscle Fibers in Hospitalized Patients
NCT01040650	Not specified	TERMINATED	Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment
NCT01047163	Not specified	COMPLETED	Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
NCT01270269	Not specified	COMPLETED	ACT-ICU Study: Activity and Cognitive Therapy in the Intensive Care Unit
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)
NCT01395563	Not specified	WITHDRAWN	Strength Training on Pancreatic Cancer
NCT01530841	Not specified	COMPLETED	Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
NCT01547767	Not specified	COMPLETED	Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
NCT01702987	Not specified	COMPLETED	Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
NCT01790178	Not specified	COMPLETED	Ultrasound in Muscle Biopsy
NCT02011282	Not specified	COMPLETED	Electro-Neuro-Muscular Stimulation in ICU
NCT02104921	Not specified	COMPLETED	Innovative Ultrasound Technology in Neuromuscular Disease
NCT02118805	Not specified	COMPLETED	Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
NCT02235220	Not specified	UNKNOWN	Reduction of Masticatory Muscle Activity by Restoring Canine Guidance
NCT02247895	Not specified	TERMINATED	Treatment of Muscle Weakness in Critically Ill Patients
NCT02315339	Not specified	TERMINATED	European Home Mechanical Ventilation Registry
NCT02442986	Not specified	COMPLETED	Neurological Outcome in Surgical and Non-surgical Septic Patients
NCT02706314	Not specified	COMPLETED	Impact of Human Blood Serum From Critically Ill Patients on Human Colon Neuronal Networks.
NCT02765828	Not specified	COMPLETED	Identification of Tongue Involvement in Late-Onset Pompe Disease
NCT03042286	Not specified	UNKNOWN	SAPhIRE Statin Adverse Drug Reaction
NCT03141749	Not specified	COMPLETED	Venous Thromboembolism in DM1
NCT03660969	Not specified	ACTIVE_NOT_RECRUITING	Reliability of Cardiac Troponins for the Diagnosis of Myocardial Infarction in the Presence of Skeletal Muscle Disease
NCT03749538	Not specified	RECRUITING	Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT03751644	Not specified	COMPLETED	Peripherical Neuromuscular Electrical Stimulation in Systemic Autoimmune Myopathies
NCT03998540	Not specified	UNKNOWN	Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy
NCT04678635	Not specified	RECRUITING	Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT04881214	Not specified	UNKNOWN	COVID-19 Pneumonia: Pulmonary Physiology, Health-related Quality of Life and Benefit of a Rehabilitation Program
NCT04941079	Not specified	UNKNOWN	Safety and Efficacy of Inactivated SARS-CoV-2 Vaccine in Immune-related Myopathy (Myasthenia Gravis and Inflammatory Myopathy) Patients ：a Prospective Observational Study
NCT05599568	Not specified	RECRUITING	Repeated Bout Effect i Neuromuscular Diseases