GPM6A

Summary

GPM6A (glycoprotein M6A, HGNC:4460) is a protein-coding gene on chromosome 4q34.2, encoding Neuronal membrane glycoprotein M6-a (P51674). Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells.

Predicted to enable calcium channel activity. Involved in neuron migration and stem cell differentiation. Located in extracellular exosome.

Source: NCBI Gene 2823 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_201591

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4460
Approved symbol	GPM6A
Name	glycoprotein M6A
Location	4q34.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000150625
Ensembl biotype	protein_coding
OMIM	601275
Entrez	2823

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 36 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000280187, ENST00000393658, ENST00000502754, ENST00000503397, ENST00000503563, ENST00000505304, ENST00000505375, ENST00000505561, ENST00000506219, ENST00000506894, ENST00000507080, ENST00000507520, ENST00000507540, ENST00000508323, ENST00000509865, ENST00000512509, ENST00000512610, ENST00000512897, ENST00000513365, ENST00000513667, ENST00000515090, ENST00000909881, ENST00000909882, ENST00000909883, ENST00000909884, ENST00000909885, ENST00000909886, ENST00000909887, ENST00000909888, ENST00000909889, ENST00000909890, ENST00000909891, ENST00000966481, ENST00000966482, ENST00000966483, ENST00000966484, ENST00000966485, ENST00000966486, ENST00000966487

RefSeq mRNA: 6 — MANE Select: NM_201591 NM_001261448, NM_001388090, NM_001388091, NM_005277, NM_201591, NM_201592

CCDS: CCDS3824, CCDS54822, CCDS58936

Canonical transcript exons

ENST00000393658 — 7 exons

Exon	Start	End
ENSE00001516177	175812191	175812264
ENSE00003522624	175632937	175635057
ENSE00003524934	175640753	175640829
ENSE00003526588	175701575	175701767
ENSE00003540826	175640129	175640194
ENSE00003790324	175673680	175673836
ENSE00003790999	175651834	175651987

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 99.90.

FANTOM5 (CAGE): breadth broad, TPM avg 40.0487 / max 9459.0318, expressed in 512 samples.

FANTOM5 promoters (36 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54987	11.7025	197
55019	5.6229	220
55020	5.2721	370
54995	3.4710	123
55021	2.7357	359
55002	2.0404	99
54991	2.0300	129
54993	1.9291	100
54990	1.1530	132
54988	0.8611	109

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.90	gold quality
cortical plate	UBERON:0005343	99.87	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.87	gold quality
entorhinal cortex	UBERON:0002728	99.81	gold quality
superior frontal gyrus	UBERON:0002661	99.80	gold quality
orbitofrontal cortex	UBERON:0004167	99.79	gold quality
CA1 field of hippocampus	UBERON:0003881	99.78	gold quality
postcentral gyrus	UBERON:0002581	99.77	gold quality
parietal lobe	UBERON:0001872	99.76	gold quality
primary visual cortex	UBERON:0002436	99.76	gold quality
occipital lobe	UBERON:0002021	99.74	gold quality
middle temporal gyrus	UBERON:0002771	99.74	gold quality
paraflocculus	UBERON:0005351	99.74	gold quality
ganglionic eminence	UBERON:0004023	99.72	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.72	gold quality
frontal pole	UBERON:0002795	99.71	gold quality
temporal lobe	UBERON:0001871	99.67	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.67	gold quality
prefrontal cortex	UBERON:0000451	99.65	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.61	gold quality
cerebral cortex	UBERON:0000956	99.60	gold quality
frontal cortex	UBERON:0001870	99.59	gold quality
frontal lobe	UBERON:0016525	99.59	gold quality
amygdala	UBERON:0001876	99.58	gold quality
cerebellum	UBERON:0002037	99.58	gold quality
neocortex	UBERON:0001950	99.56	gold quality
cerebellar cortex	UBERON:0002129	99.55	gold quality
cerebellar hemisphere	UBERON:0002245	99.54	gold quality
telencephalon	UBERON:0001893	99.53	gold quality
lateral globus pallidus	UBERON:0002476	99.53	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	7478.74
E-HCAD-30	yes	6389.23
E-HCAD-25	yes	5147.20
E-GEOD-180759	yes	4282.37
E-GEOD-93593	yes	2615.67
E-GEOD-137537	yes	32.23
E-MTAB-7316	yes	29.84
E-GEOD-84465	yes	23.98
E-MTAB-5061	yes	15.50
E-ENAD-27	yes	10.58
E-GEOD-83139	yes	8.26
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

249 targeting GPM6A, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-485-3P	99.98	70.68	1585

Literature-anchored findings (GeneRIF, showing 28)

• GMP6A plays a role in the stress-induced hippocampal alterations that are found in psychiatric disorders in general and schizophrenia in particular. (PMID:18163405)
• Results indicate that M6a modulates mu-opioid receptor endocytosis and post-endocytotic sorting and has an important role in receptor regulation. (PMID:18574501)
• Results suggest that expression level of GPM6A is associated with the differentiation and neuronal migration of neurons derived from undifferentiated human embryonic stem cells. (PMID:19298174)
• loosing dynamic regulation of neuronal GPM6A expression poses a genetic risk for claustrophobia (PMID:23632458)
• Data indicate that neuronal membrane glycoproteins GPM6A and GPM6B may act as novel oncogenes in the development of lymphoid leukemia. (PMID:24916915)
• findings thus indicate a critical role of correct GPM6A/M6 levels for cognitive function and support a role of the GPM6A duplication for the patient’s phenotype (PMID:25224183)
• HDAC5 emerges as a cellular conductor of MEF2C and M6a activity and is regulated by miR-124 and miR-9 to control neurite development. (PMID:28332716)
• Authors report on N6-methyladenosine (m6A) RNA modification profiles of human peripheral blood mononuclear cells (PBMCs) from young and old cohorts. An m6A RNA profile identified a decrease in overall RNA methylation during the aging process as well as the predominant modification on proteincoding mRNAs. (PMID:29573145)
• A comprehensive study on identifying the structural and functional SNPs of human neuronal membrane glycoprotein M6A (GPM6A). (PMID:32248748)
• Multiomics integrative analysis for gene signatures and prognostic values of m(6)A regulators in pancreatic adenocarcinoma: a retrospective study in The Cancer Genome Atlas project. (PMID:33082301)
• Screening and Identifying m6A Regulators as an Independent Prognostic Biomarker in Pancreatic Cancer Based on The Cancer Genome Atlas Database. (PMID:34055982)
• Physio-pathological effects of m6A modification and its potential contribution to melanoma. (PMID:34105069)
• NPM1 Is a Prognostic Biomarker Involved in Immune Infiltration of Lung Adenocarcinoma and Associated With m6A Modification and Glycolysis. (PMID:34335635)
• CircCCNB1 silencing acting as a miR-106b-5p sponge inhibited GPM6A expression to promote HCC progression by enhancing DYNC1I1 expression and activating the AKT/ERK signaling pathway. (PMID:35002514)
• The Glycoprotein M6a Is Associated with Invasiveness and Radioresistance of Glioblastoma Stem Cells. (PMID:35883571)
• Expression of m[6]A Methylation Regulator in Osteoarthritis and Its Prognostic Markers. (PMID:36443992)
• Biological and pharmacological roles of m[6]A modifications in cancer drug resistance. (PMID:36517820)
• The Tumorigenic Effect of lncRNA AFAP1-AS1 is Mediated by Translated Peptide ATMLP Under the Control of m[6] A Methylation. (PMID:36871154)
• m6A regulator-mediated RNA methylation modification patterns are involved in the regulation of the immune microenvironment in ischaemic cardiomyopathy. (PMID:37041267)
• Potential Roles of m6A and FTO in Synaptic Connectivity and Major Depressive Disorder. (PMID:37047192)
• Purine anabolism creates therapeutic vulnerability in hepatocellular carcinoma through m 6 A-mediated epitranscriptomic regulation. (PMID:37094826)
• Fat mass and obesity-associated factor (FTO)-mediated N6-methyladenosine regulates spermatogenesis in an age-dependent manner. (PMID:37146971)
• Comprehensive analysis of FOXM1 immune infiltrates, m6a, glycolysis and ceRNA network in human hepatocellular carcinoma. (PMID:37234166)
• N[6]-methyladenosine regulator YTHDF1 represses the CD8 + T cell-mediated antitumor immunity and ferroptosis in prostate cancer via m[6]A/PD-L1 manner. (PMID:37698736)
• m[6]A modification and its role in neural development and neurological diseases. (PMID:37718929)
• H3K18 lactylation promotes the progression of arsenite-related idiopathic pulmonary fibrosis via YTHDF1/m6A/NREP. (PMID:37742376)
• Hypoxia-Induced Neuronal Activity in Glioma Patients Polarizes Microglia by Potentiating RNA m6A Demethylation. (PMID:37855702)
• M6A methylation-regulated autophagy may be a new therapeutic target for intervertebral disc degeneration. (PMID:38317355)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gpm6ab	ENSDARG00000004621
mus_musculus	Gpm6a	ENSMUSG00000031517
rattus_norvegicus	Gpm6a	ENSRNOG00000010731
drosophila_melanogaster	M6	FBGN0037092
caenorhabditis_elegans		WBGENE00017437

Paralogs (2): GPM6B (ENSG00000046653), PLP1 (ENSG00000123560)

Protein

Protein identifiers

Neuronal membrane glycoprotein M6-a — P51674 (reviewed: P51674)

All UniProt accessions (15): P51674, A0A1D5RMS2, D6R9D2, D6R9T7, D6RAE4, D6RB41, D6RBH3, D6RBM6, D6RD71, D6RD95, D6RDV7, D6REJ8, D6RFY0, D6RFZ3, D6RIF4

UniProt curated annotations — full annotation on UniProt →

Function. Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); enhances internalization and recycling of mu-type opioid receptor.

Subunit / interactions. Interacts with OPRM1. Interacts with palmitoyltransferase ZDHHC17/HIP14; the interaction leads to palmitoylation of GPM6A.

Subcellular location. Cell membrane. Cell projection. Axon. Growth cone. Dendritic spine. Filopodium. Neuron projection.

Post-translational modifications. N-glycosylated. Palmitoylated by ZDHHC17/HIP14.

Similarity. Belongs to the myelin proteolipid protein family.

Isoforms (3)

UniProt ID	Names	Canonical?
P51674-1	1	yes
P51674-2	2
P51674-3	3

RefSeq proteins (6): NP_001248377, NP_001375019, NP_001375020, NP_005268, NP_963885, NP_963886 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001614	Myelin_PLP	Family
IPR018237	Myelin_PLP_CS	Conserved_site

Pfam: PF01275

UniProt features (20 total): topological domain 5, transmembrane region 4, modified residue 3, glycosylation site 2, splice variant 2, chain 1, disulfide bond 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51674-F1	82.92	0.43

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 (3): 1, 256, 278

Disulfide bonds (1): 174–192

Glycosylation sites (2): 164, 208

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 384 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GNF2_RTN1, CREL_01, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, WALLACE_PROSTATE_CANCER_RACE_UP, HNF3ALPHA_Q6, GOBP_SYNAPSE_ASSEMBLY, TTTGTAG_MIR520D, MODULE_64, chr4q34, TATTATA_MIR374, GOBP_NEUROGENESIS, ATGCAGT_MIR217, GOBP_NEURAL_RETINA_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS

GO Biological Process (11): neuron migration (GO:0001764), neural retina development (GO:0003407), synapse assembly (GO:0007416), response to bacterium (GO:0009617), neuron projection development (GO:0031175), neuron projection morphogenesis (GO:0048812), stem cell differentiation (GO:0048863), regulation of synapse organization (GO:0050807), positive regulation of filopodium assembly (GO:0051491), nervous system development (GO:0007399), calcium ion transmembrane transport (GO:0070588)

GO Molecular Function (2): calcium channel activity (GO:0005262), protein binding (GO:0005515)

GO Cellular Component (17): plasma membrane (GO:0005886), filopodium (GO:0030175), neuron projection (GO:0043005), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), axonal growth cone (GO:0044295), presynaptic active zone membrane (GO:0048787), extracellular exosome (GO:0070062), parallel fiber to Purkinje cell synapse (GO:0098688), glutamatergic synapse (GO:0098978), extracellular vesicle (GO:1903561), membrane (GO:0016020), axon (GO:0030424), growth cone (GO:0030426), cell projection (GO:0042995), synapse (GO:0045202), presynapse (GO:0098793)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
synapse organization	2
synapse	2
cell migration	1
generation of neurons	1
anatomical structure development	1
retina development in camera-type eye	1
nervous system development	1
cell junction assembly	1
response to other organism	1
neuron development	1
plasma membrane bounded cell projection organization	1
neuron projection development	1
plasma membrane bounded cell projection morphogenesis	1
cell differentiation	1
regulation of synapse structure or activity	1
regulation of cellular component organization	1
filopodium assembly	1
regulation of filopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
system development	1
calcium ion transport	1
monoatomic cation transmembrane transport	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
binding	1
membrane	1
cell periphery	1
actin-based cell projection	1
plasma membrane bounded cell projection	1
somatodendritic compartment	1
cell body	1
dendrite	1
neuron spine	1
postsynapse	1
growth cone	1
presynaptic membrane	1
presynaptic active zone	1
synaptic membrane	1
extracellular vesicle	1

Protein interactions and networks

STRING

1894 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPM6A	CLCN3	P51790	838
GPM6A	SYP	P08247	682
GPM6A	OPRM1	P35372	650
GPM6A	TIAM2	Q8IVF5	562
GPM6A	RAP2A	P10114	530
GPM6A	UPK1B	O75841	530
GPM6A	PMS2P11	Q13670	476
GPM6A	C22orf39	Q6P5X5	461
GPM6A	SYN1	P17600	447
GPM6A	LRRN4	Q8WUT4	428
GPM6A	ANKRD10	Q9NXR5	418
GPM6A	SLC6A5	Q9Y345	417
GPM6A	GNG7	O60262	410
GPM6A	CNR1	P21554	405
GPM6A	RUFY3	Q7L099	387

IntAct

63 interactions, top by confidence:

A	B	Type	Score
HTT	GPM6A	psi-mi:“MI:0915”(physical association)	0.670
GPM6A	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.600
ZDHHC17	GPM6A	psi-mi:“MI:0915”(physical association)	0.600
GPM6A	ZDHHC17	psi-mi:“MI:0403”(colocalization)	0.600
GPM6A	TGFBR2	psi-mi:“MI:0915”(physical association)	0.560
GPM6A	ICAM5	psi-mi:“MI:0915”(physical association)	0.560
KLF11	GPM6A	psi-mi:“MI:0915”(physical association)	0.560
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
P2RY1	SLC19A2	psi-mi:“MI:0914”(association)	0.530
TSPAN17	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
EDA	AP3B1	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
WLS	GPM6A	psi-mi:“MI:0915”(physical association)	0.510
WLS	GPM6A	psi-mi:“MI:0915”(physical association)	0.370
GPM6A	rep	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (183): GPM6A (Two-hybrid), GPM6A (Affinity Capture-Western), ZDHHC17 (Affinity Capture-Western), CCDC126 (Affinity Capture-MS), MGAT5 (Affinity Capture-MS), RMDN3 (Affinity Capture-MS), SLC35B2 (Affinity Capture-MS), AGPAT3 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), HAX1 (Affinity Capture-MS), IKBIP (Affinity Capture-MS), RFT1 (Affinity Capture-MS), UQCR10 (Affinity Capture-MS), YIPF3 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8RY99, A0PK11, A9UL59, B2RVW2, B4L184, B4LC58, B4N5D3, D3ZFW5, O95473, P23290, P35801, P35802, P35803, P36964, P36965, P51674, P56749, P58418, P79826, Q0IIL2, Q0P4G7, Q0VD07, Q11085, Q13491, Q2YDD6, Q53R12, Q5R603, Q5R9K1, Q5R9Q3, Q5R9R3, Q5T9L3, Q5ZLR1, Q6AYR5, Q6CRM6, Q6DID7, Q6P689, Q6UX40, Q754N9, Q7YWX7, Q812E9

Diamond homologs: P04116, P23289, P23290, P23294, P35801, P35802, P35803, P36963, P36964, P36965, P47789, P47790, P51674, P60201, P60202, P60203, P79826, Q0VD07, Q13491, Q5R603, Q5R6E6, Q5R9Q3, Q712P7, Q812E9, Q8HXW7, Q9JJK1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRKCA	“up-regulates activity”	GPM6A	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	11
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4356 predictions. Top by Δscore:

Variant	Effect	Δscore
4:175635053:TGAAC:T	acceptor_gain	1.0000
4:175635056:ACCT:A	acceptor_loss	1.0000
4:175635057:CCTA:C	acceptor_loss	1.0000
4:175635058:C:CC	acceptor_gain	1.0000
4:175640123:TCTTA:T	donor_loss	1.0000
4:175640124:CTTA:C	donor_loss	1.0000
4:175640125:TTA:T	donor_loss	1.0000
4:175640126:TACC:T	donor_loss	1.0000
4:175640127:ACCAT:A	donor_loss	1.0000
4:175640128:C:CA	donor_loss	1.0000
4:175640192:CAG:C	acceptor_gain	1.0000
4:175640195:C:CC	acceptor_gain	1.0000
4:175640208:C:CT	acceptor_gain	1.0000
4:175640748:CTCA:C	donor_loss	1.0000
4:175640749:TCA:T	donor_loss	1.0000
4:175640750:CA:C	donor_loss	1.0000
4:175640751:A:AC	donor_gain	1.0000
4:175640751:ACCTC:A	donor_loss	1.0000
4:175640752:C:CA	donor_loss	1.0000
4:175640752:C:CC	donor_gain	1.0000
4:175640752:CCT:C	donor_gain	1.0000
4:175651829:CTTA:C	donor_loss	1.0000
4:175651830:TTACC:T	donor_loss	1.0000
4:175651832:A:AC	donor_gain	1.0000
4:175651832:A:AT	donor_loss	1.0000
4:175651832:AC:A	donor_gain	1.0000
4:175651833:C:CT	donor_gain	1.0000
4:175651833:CC:C	donor_gain	1.0000
4:175651833:CCAA:C	donor_gain	1.0000
4:175651833:CCAAA:C	donor_gain	1.0000

AlphaMissense

1830 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:175634957:A:G	L262P	1.000
4:175640154:C:T	G220E	1.000
4:175640155:C:G	G220R	1.000
4:175640155:C:T	G220R	1.000
4:175651954:A:G	W141R	1.000
4:175651954:A:T	W141R	1.000
4:175673760:C:G	G103R	1.000
4:175673771:A:G	L99P	1.000
4:175673780:C:T	G96D	1.000
4:175673781:C:G	G96R	1.000
4:175701689:C:T	G39D	1.000
4:175701690:C:G	G39R	1.000
4:175701710:G:T	A32D	1.000
4:175634957:A:T	L262H	0.999
4:175634977:C:A	K255N	0.999
4:175634977:C:G	K255N	0.999
4:175635028:G:C	N238K	0.999
4:175635028:G:T	N238K	0.999
4:175635032:G:T	A237D	0.999
4:175635038:A:G	L235P	0.999
4:175635047:A:G	L232P	0.999
4:175640133:G:T	A227D	0.999
4:175640149:C:G	G222R	0.999
4:175640149:C:T	G222R	0.999
4:175640154:C:A	G220V	0.999
4:175651923:G:C	P151R	0.999
4:175651948:C:G	G143R	0.999
4:175651948:C:T	G143R	0.999
4:175673686:G:C	S127R	0.999
4:175673686:G:T	S127R	0.999

dbSNP variants (sampled 300 via entrez): RS1000004938 (4:175836689 T>A,C), RS1000006976 (4:175719259 C>T), RS1000009192 (4:175640636 T>C), RS1000028951 (4:175846857 G>A), RS1000031888 (4:175936394 A>G), RS1000043633 (4:175894182 A>G), RS1000054139 (4:175757408 C>G), RS1000055827 (4:175709351 CTCTG>C), RS1000062271 (4:175977215 AT>A,ATT), RS1000063710 (4:175700229 A>G), RS1000066508 (4:175748213 A>G), RS1000074091 (4:175763120 T>C), RS1000074680 (4:175748516 A>AT), RS10000752 (4:175847970 G>A,C,T), RS1000080228 (4:175974025 C>A)

Disease associations

OMIM: gene MIM:601275 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000661_4	Mortality in heart failure	4.000000e-06
GCST001419_9	Temperament (bipolar disorder)	2.000000e-06
GCST002045_6	Educational attainment	7.000000e-06
GCST002539_55	Schizophrenia	9.000000e-09
GCST003075_118	Cognitive decline rate in late mild cognitive impairment	3.000000e-11
GCST003075_119	Cognitive decline rate in late mild cognitive impairment	3.000000e-08
GCST003075_37	Cognitive decline rate in late mild cognitive impairment	4.000000e-08
GCST003075_88	Cognitive decline rate in late mild cognitive impairment	6.000000e-11
GCST004946_2	Schizophrenia	1.000000e-09
GCST006803_92	Schizophrenia	1.000000e-11
GCST007201_426	Schizophrenia	4.000000e-08
GCST007201_470	Schizophrenia	4.000000e-08
GCST008595_154	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	2.000000e-08
GCST009310_32	Sensorimotor dexterity	7.000000e-07
GCST009524_294	Household income (MTAG)	1.000000e-09
GCST011595_1	Sepsis (28-day mortality)	1.000000e-08
GCST012305_7	Major depressive disorder x sex interaction	4.000000e-06

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004352	mortality
EFO:0004365	personality trait
EFO:0004784	self reported educational attainment
EFO:0007710	cognitive decline measurement
EFO:0004337	intelligence
EFO:0008354	cognitive function measurement
EFO:0009695	household income
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	7
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Aflatoxin B1	affects methylation, decreases expression	3
methylmercuric chloride	increases expression, decreases expression	2
bisphenol A	increases methylation, decreases expression, affects methylation, affects cotreatment	2
sodium arsenite	decreases expression	2
entinostat	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
methyleugenol	decreases expression	1
terbufos	increases methylation	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	increases expression	1
mercuric bromide	increases expression	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, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	affects expression, increases abundance	1
Cocaine	decreases expression	1
Cytarabine	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Fonofos	increases methylation	1
Estradiol	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
N-Nitrosopyrrolidine	decreases expression	1
Ozone	affects expression, increases abundance	1
Parathion	increases methylation	1

Clinical trials (associated diseases)

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