METTL13

Summary

METTL13 (methyltransferase 13, eEF1A N-terminus and K55, HGNC:24248) is a protein-coding gene on chromosome 1q24.3, encoding eEF1A lysine and N-terminal methyltransferase (Q8N6R0). Dual methyltransferase that catalyzes methylation of elongation factor 1-alpha (EEF1A1 and EEF1A2) at two different positions, and is therefore involved in the regulation of mRNA translation.

Enables protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Located in cytosol.

Source: NCBI Gene 51603 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 136 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_015935

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24248
Approved symbol	METTL13
Name	methyltransferase 13, eEF1A N-terminus and K55
Location	1q24.3
Locus type	gene with protein product
Status	Approved
Aliases	CGI-01, FEAT
Ensembl gene	ENSG00000010165
Ensembl biotype	protein_coding
OMIM	617987
Entrez	51603

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000361735, ENST00000362019, ENST00000367737, ENST00000466643, ENST00000476386, ENST00000478330, ENST00000485629, ENST00000862970, ENST00000862971, ENST00000928666, ENST00000928667

RefSeq mRNA: 3 — MANE Select: NM_015935 NM_001007239, NM_014955, NM_015935

CCDS: CCDS1299, CCDS1300, CCDS30936

Canonical transcript exons

ENST00000361735 — 8 exons

Exon	Start	End
ENSE00000789800	171787735	171787930
ENSE00000789801	171790452	171790616
ENSE00000814573	171785879	171786078
ENSE00001945961	171781660	171782120
ENSE00003487445	171792017	171792235
ENSE00003494674	171794396	171794527
ENSE00003630249	171783740	171784499
ENSE00003841921	171796482	171797716

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 90.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0184 / max 132.9588, expressed in 1734 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6653	8.0184	1734

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	90.15	gold quality
stromal cell of endometrium	CL:0002255	89.40	gold quality
islet of Langerhans	UBERON:0000006	89.24	gold quality
granulocyte	CL:0000094	88.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.39	gold quality
right testis	UBERON:0004534	88.26	gold quality
rectum	UBERON:0001052	88.22	gold quality
right adrenal gland	UBERON:0001233	87.93	gold quality
left testis	UBERON:0004533	87.86	gold quality
right adrenal gland cortex	UBERON:0035827	87.78	gold quality
testis	UBERON:0000473	87.49	gold quality
pancreatic ductal cell	CL:0002079	87.33	silver quality
gastrocnemius	UBERON:0001388	87.23	gold quality
left adrenal gland	UBERON:0001234	87.16	gold quality
apex of heart	UBERON:0002098	87.11	gold quality
muscle of leg	UBERON:0001383	87.04	gold quality
left adrenal gland cortex	UBERON:0035825	87.02	gold quality
cervix squamous epithelium	UBERON:0006922	86.90	gold quality
lymph node	UBERON:0000029	86.83	gold quality
adrenal cortex	UBERON:0001235	86.56	gold quality
endothelial cell	CL:0000115	86.51	gold quality
prefrontal cortex	UBERON:0000451	86.20	gold quality
leukocyte	CL:0000738	86.17	gold quality
amniotic fluid	UBERON:0000173	86.14	gold quality
right lobe of liver	UBERON:0001114	86.12	gold quality
skin of leg	UBERON:0001511	86.08	gold quality
adrenal gland	UBERON:0002369	86.06	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.06	gold quality
smooth muscle tissue	UBERON:0001135	86.03	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.60
E-GEOD-75367	no	154.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting METTL13, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-182-3P	99.57	67.57	825
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-145-3P	99.33	67.66	764
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3940-5P	99.14	65.26	493
HSA-MIR-4507	99.14	65.27	515

Literature-anchored findings (GeneRIF, showing 11)

• The DFNM1 gene modified the phenotype of a inherited deafness family possibly by silencing the DFNB26 mutated gene. (PMID:12805671)
• disease-free survival and overall survival were significantly shorter in breast cancer patients with high FEAT expression than in those with low expression of FEAT (PMID:27881013)
• METTL13 gene rs2232825 locus or a linked functional locus may modulate the vulnerability to development of postpartum psychosis. (PMID:28483099)
• Single nucleotide polymorphism association study demonstrated association METTL13 on chromosome 1 with Postpartum Depression.METTL13 is putatively involved with methyltransferase activity, which has been shown to play a role in estrogen receptor-induced gene transcription. (PMID:29082433)
• Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. (PMID:29408807)
• The Mettl3-Mettl14-mediated m6A was found to promote the development of acute myeloid leukemia and maintain leukemia-initiating cells. (PMID:30006613)
• METTL13 and eEF1AK55me2 levels are upregulated in cancer and negatively correlate with pancreatic and lung cancer patient survival. METTL13 deletion and eEF1AK55me2 loss dramatically reduce Ras-driven neoplastic growth in mouse models and in patient-derived xenografts (PDXs) from primary pancreatic and lung tumors. (PMID:30612740)
• MiR-16 inhibits hepatocellular carcinoma progression by targeting FEAT through NF-kappaB signaling pathway. (PMID:31841182)
• METTL13 inhibits progression of clear cell renal cell carcinoma with repression on PI3K/AKT/mTOR/HIF-1alpha pathway and c-Myc expression. (PMID:33985542)
• METTL13 promotes nasopharyngeal carcinoma progression through regulating the ZEB1/TPT1 axis. (PMID:36735630)
• Biological Relevance of Dual Lysine and N-Terminal Methyltransferase METTL13. (PMID:39334878)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mettl13	ENSDARG00000010905
mus_musculus	Mettl13	ENSMUSG00000026694
rattus_norvegicus	Mettl13	ENSRNOG00000003042
drosophila_melanogaster	CG2614	FBGN0032873
caenorhabditis_elegans		WBGENE00015282

Paralogs (2): CSKMT (ENSG00000214756), EEF1AKMT4 (ENSG00000284753)

Protein

Protein identifiers

eEF1A lysine and N-terminal methyltransferase — Q8N6R0 (reviewed: Q8N6R0)

Alternative names: Methyltransferase-like protein 13

All UniProt accessions (2): Q8N6R0, C4B4C6

UniProt curated annotations — full annotation on UniProt →

Function. Dual methyltransferase that catalyzes methylation of elongation factor 1-alpha (EEF1A1 and EEF1A2) at two different positions, and is therefore involved in the regulation of mRNA translation. Via its C-terminus, methylates EEF1A1 and EEF1A2 at the N-terminal residue ‘Gly-2’. Via its N-terminus dimethylates EEF1A1 and EEF1A2 at residue ‘Lys-55’. Has no activity towards core histones H2A, H2B, H3 and H4.

Subunit / interactions. Forms a tripartite complex containing GAB1, METTL13 and SPRY2. Within the complex interacts with GAB1 and SPRY2.

Subcellular location. Cytoplasm. Nucleus. Mitochondrion.

Disease relevance. METTL13 unregulation may be involved in tumorigenesis. High METTL13 expression has been observed in pancreatic and lung cancer tissues, correlates with overexpression of dimethylated elongation factor 1-alpha and is associated with poor clinical outcome. The disease mechanism involves dysregulation of mRNA translation and enhanced protein synthesis to sustain growth of malignant cells.

Activity regulation. Protein N-terminal methyltransferase activity is inhibited by GTP and GDP.

Polymorphism. Genetic variants in METTL13 define the deafness modifier locus DFNB26M [MIM:605429]. The DFNB26M phenotype is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene.

Miscellaneous. Present in the circulating blood plasma of cancer patients, particularly in ovarian and non-small cell lung cancer patients, may potentially be used as a biomarker.

Similarity. Belongs to the methyltransferase superfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8N6R0-5	1	yes
Q8N6R0-4	2
Q8N6R0-3	3
Q8N6R0-1	4
Q8N6R0-2	5

RefSeq proteins (3): NP_001007240, NP_055770, NP_057019* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR041698	Methyltransf_25	Domain
IPR051419	Lys/N-term_MeTrsfase_sf	Family

Pfam: PF01564, PF13649

Enzyme classification (BRENDA):

• EC 2.1.1.244 — protein N-terminal methyltransferase (BRENDA: 5 organisms, 114 substrates, 37 inhibitors, 30 Km, 20 kcat entries)

Substrate kinetics (BRENDA)

19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-TERMINAL-SPKRIA-[RCC1]	0.0032–0.263	3
SSKRAKAKTTKKRP	0.0044–0.0156	3
N-TERMINAL-SPKRIAKRRSPP	0.0031–0.0049	2
N-TERMINAL-[RCC1]	0.002–0.0021	2
SPKRIAKRRSPPADA	0.0009–0.0011	2
(E)-HEX-2-EN-5-YNYL-S-ADENOSYL-L-METHIONINE	0.0014	1
APKRQSPLPP	0.002	1
APKRVVQLSL	0.0031	1
N-TERMINAL-DIMETHYL-SPKRIAKRRS	0.0043	1
N-TERMINAL-LPKRIA	0.0054	1
N-TERMINAL-METHYL-SPKRIAKRRS	0.0014	1
N-TERMINAL-PPKRIA	0.0003	1
N-TERMINAL-RPKRIA	0.004	1
N-TERMINAL-SPKRIAKRR	0.0014	1
N-TERMINAL-SPKRIAKRRS	0.0009	1

Catalyzed reactions (Rhea), 3 shown:

• L-lysyl-[protein] + S-adenosyl-L-methionine = N(6)-methyl-L-lysyl-[protein] + S-adenosyl-L-homocysteine + H(+) (RHEA:51736)
• N(6)-methyl-L-lysyl-[protein] + S-adenosyl-L-methionine = N(6),N(6)-dimethyl-L-lysyl-[protein] + S-adenosyl-L-homocysteine + H(+) (RHEA:54196)
• N-terminal glycyl-L-lysyl-L-glutamyl-[protein] + 3 S-adenosyl-L-methionine = N-terminal N,N,N-trimethyl-glycyl-L-lysyl-L-glutamyl-[protein] + 3 S-adenosyl-L-homocysteine + 3 H(+) (RHEA:58440)

UniProt features (54 total): mutagenesis site 16, helix 13, strand 8, sequence variant 4, sequence conflict 4, splice variant 4, modified residue 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5WCJ	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N6R0-F1	87.81	0.65

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): 1, 267

Mutagenesis-validated functional residues (16):

Position	Phenotype
54	decreased eef1a lysine methyltransferase activity.
58	loss of eef1a lysine methyltransferase activity.
59	loss of eef1a lysine methyltransferase activity.
67	loss of eef1a lysine methyltransferase activity.
71	loss of eef1a lysine methyltransferase activity.
76	loss of eef1a lysine methyltransferase activity.
115	loss of eef1a lysine methyltransferase activity.
120–121	loss of eef1a lysine methyltransferase activity.
156	loss of eef1a lysine methyltransferase activity.
524	loss of activity.
551	decreased activity.
575	loss of activity.
576	decreased activity.
577	decreased activity.
578	no effect on activity.
647	decreased activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 149 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GARY_CD5_TARGETS_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, HAN_SATB1_TARGETS_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, ACEVEDO_LIVER_CANCER_UP, DANG_BOUND_BY_MYC, GOBP_METHYLATION, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, USF2_Q6, SANSOM_APC_TARGETS

GO Biological Process (1): methylation (GO:0032259)

GO Molecular Function (6): protein-lysine N-methyltransferase activity (GO:0016279), catalytic activity (GO:0003824), protein binding (GO:0005515), methyltransferase activity (GO:0008168), S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), transferase activity (GO:0016740)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
cytoplasm	2
metabolic process	1
protein methyltransferase activity	1
lysine N-methyltransferase activity	1
molecular_function	1
binding	1
transferase activity, transferring one-carbon groups	1
methyltransferase activity	1
catalytic activity	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

730 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
METTL13	METTL14	Q9HCE5	909
METTL13	WTAP	Q15007	886
METTL13	PRRX1	P54821	844
METTL13	EEF1AKMT2	Q5JPI9	818
METTL13	VIRMA	Q69YN4	762
METTL13	METTL16	Q86W50	698
METTL13	METTL21C	Q5VZV1	689
METTL13	METTL25	Q8N6Q8	681
METTL13	METTL9	Q9H1A3	676
METTL13	RBM15	Q96T37	660
METTL13	METTL24	Q5JXM2	649
METTL13	METTL2B	Q6P1Q9	647
METTL13	ZC3H13	Q5T200	612
METTL13	TRMT44	Q8IYL2	586
METTL13	TMT1B	Q6UX53	582

IntAct

68 interactions, top by confidence:

A	B	Type	Score
METTL13	THAP1	psi-mi:“MI:0915”(physical association)	0.670
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
METTL13	SNRPA	psi-mi:“MI:0915”(physical association)	0.560
METTL13	VPS52	psi-mi:“MI:0915”(physical association)	0.560
SNRPA	METTL13	psi-mi:“MI:0915”(physical association)	0.560
VPS52	METTL13	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	METTL13	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	METTL13	psi-mi:“MI:0915”(physical association)	0.560
METTL13	ATN1	psi-mi:“MI:0915”(physical association)	0.560
METTL13	KLK6	psi-mi:“MI:0915”(physical association)	0.560
METTL13	EEF1AKMT3	psi-mi:“MI:0915”(physical association)	0.560
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
LAMP3	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
FOXS1	DDX39A	psi-mi:“MI:0914”(association)	0.350
MAPK6		psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350

BioGRID (110): METTL13 (Two-hybrid), METTL13 (Two-hybrid), METTL13 (Affinity Capture-MS), METTL13 (Affinity Capture-MS), METTL13 (Affinity Capture-MS), METTL13 (Affinity Capture-MS), METTL13 (Affinity Capture-MS), METTL13 (Affinity Capture-MS), METTL13 (Affinity Capture-MS), ANKMY2 (Co-fractionation), BUB3 (Co-fractionation), DNAJC8 (Co-fractionation), PFKP (Co-fractionation), PIN4 (Co-fractionation), PTPN2 (Co-fractionation)

ESM2 similar proteins: A0A1D5PJB7, A1A4Q9, A5YM72, A6NLP5, D3KCC4, I3L5V6, O43292, P10938, Q00973, Q05B52, Q09200, Q10468, Q14623, Q148G5, Q16586, Q2V8X7, Q3SZV0, Q561R2, Q5E9M9, Q5M868, Q5ZL13, Q66H45, Q69ZF3, Q6P3D0, Q6P7A1, Q6P9Z4, Q6SZW1, Q6TEC1, Q6ZPS2, Q7TMC8, Q864R5, Q86TX2, Q8IXI1, Q8N0W3, Q8N3Y3, Q8N6R0, Q8NF37, Q8NI29, Q8TCD5, Q8VBW8

Diamond homologs: A5PK19, A5WVX1, P0DPD7, P0DPD8, P0DPD9, P0DPE0, P0DPE1, P0DPE2, Q29LW1, Q6NTR1, Q7MF74, Q7NQK7, Q8D3Q3, Q8N6R0, Q91YR5, Q9VIK9, A8MUP2, Q5RCI5, A0A0B4K692, B2RQR8, F1N476, O16796, O44857, O95672, P07861, P08049, P08473, P0C1T0, P0DPD6, P23276, P42891, P42892, P42893, P70669, P78562, P97739, Q18673, Q22523, Q495T6, Q4PZA2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	109
Likely benign	8
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

1521 predictions. Top by Δscore:

Variant	Effect	Δscore
1:171783736:CCA:C	acceptor_loss	1.0000
1:171783738:A:C	acceptor_loss	1.0000
1:171784496:ATCA:A	donor_gain	1.0000
1:171784497:TCA:T	donor_gain	1.0000
1:171784500:G:GG	donor_gain	1.0000
1:171784500:GTG:G	donor_loss	1.0000
1:171784501:T:G	donor_loss	1.0000
1:171785877:A:AG	acceptor_gain	1.0000
1:171785878:G:GC	acceptor_gain	1.0000
1:171785878:GTC:G	acceptor_gain	1.0000
1:171785878:GTCCC:G	acceptor_gain	1.0000
1:171786075:GCAG:G	donor_gain	1.0000
1:171787730:TTCA:T	acceptor_loss	1.0000
1:171787731:TCA:T	acceptor_loss	1.0000
1:171787732:CAGGT:C	acceptor_loss	1.0000
1:171787734:G:GA	acceptor_loss	1.0000
1:171787882:A:T	donor_gain	1.0000
1:171787915:G:GT	donor_gain	1.0000
1:171787927:AAAG:A	donor_loss	1.0000
1:171787928:AAGGT:A	donor_loss	1.0000
1:171787930:GGTG:G	donor_loss	1.0000
1:171787931:G:C	donor_loss	1.0000
1:171787932:T:A	donor_loss	1.0000
1:171792231:AGAAG:A	donor_loss	1.0000
1:171792232:GAAG:G	donor_gain	1.0000
1:171792232:GAAGG:G	donor_loss	1.0000
1:171792233:AAGGT:A	donor_loss	1.0000
1:171792236:GTA:G	donor_loss	1.0000
1:171792237:T:A	donor_loss	1.0000
1:171794504:TTAA:T	donor_gain	1.0000

AlphaMissense

4594 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:171785891:G:C	R309P	0.998
1:171787862:T:C	L414P	0.998
1:171794426:A:T	D575V	0.998
1:171787856:G:C	R412P	0.997
1:171787859:G:C	R413P	0.997
1:171787867:T:C	F416L	0.997
1:171787869:C:A	F416L	0.997
1:171787869:C:G	F416L	0.997
1:171787893:G:C	Q424H	0.997
1:171787893:G:T	Q424H	0.997
1:171787894:T:C	S425P	0.997
1:171794426:A:C	D575A	0.997
1:171794427:T:A	D575E	0.997
1:171794427:T:G	D575E	0.997
1:171794461:T:C	C587R	0.997
1:171796496:A:G	N614D	0.997
1:171796498:C:A	N614K	0.997
1:171796498:C:G	N614K	0.997
1:171796500:T:C	L615P	0.997
1:171787855:C:A	R412S	0.996
1:171787895:C:T	S425F	0.996
1:171785902:T:A	W313R	0.995
1:171785902:T:C	W313R	0.995
1:171785908:T:C	F315L	0.995
1:171785910:T:A	F315L	0.995
1:171785910:T:G	F315L	0.995
1:171792140:C:A	A533D	0.995
1:171794426:A:G	D575G	0.995
1:171794463:T:G	C587W	0.995
1:171794465:C:A	P588Q	0.995

dbSNP variants (sampled 300 via entrez): RS1000108980 (1:171784240 T>A,C), RS1000170356 (1:171797168 A>G), RS1000177238 (1:171783097 T>G), RS1000228900 (1:171783960 A>C,G), RS1000436076 (1:171789725 A>AC), RS1000457246 (1:171796775 C>T), RS1000807051 (1:171790013 C>T), RS1000932241 (1:171791359 G>A,C), RS1001023300 (1:171779744 C>A,T), RS1001176585 (1:171791244 TC>T), RS1001234956 (1:171789180 A>C,G), RS1001293292 (1:171796305 C>T), RS1001299479 (1:171797657 T>G), RS1001434476 (1:171789464 T>C), RS1001502380 (1:171780377 C>G)

Disease associations

OMIM: gene MIM:617987 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003075_103	Cognitive decline rate in late mild cognitive impairment	7.000000e-07
GCST003075_2	Cognitive decline rate in late mild cognitive impairment	1.000000e-06
GCST007637_32	Diffusing capacity of carbon monoxide	7.000000e-06
GCST90002401_395	Platelet distribution width	2.000000e-32

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007710	cognitive decline measurement
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
coumarin	increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenicals	increases methylation	1
Atrazine	decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Nickel	decreases expression	1
Quercetin	decreases phosphorylation	1
Tobacco Smoke Pollution	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SX89	HAP1 METTL13 (-) 1	Cancer cell line	Male
CVCL_SX90	HAP1 METTL13 (-) 2	Cancer cell line	Male
CVCL_SX91	HAP1 METTL13 (-) 3	Cancer cell line	Male
CVCL_SX92	HAP1 METTL13 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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