MTMR14

Summary

MTMR14 (myotubularin related protein 14, HGNC:26190) is a protein-coding gene on chromosome 3p25.3, encoding Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 (Q8NCE2). Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate.

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.

Source: NCBI Gene 64419 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant centronuclear myopathy (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 378 total
• Phenotypes (HPO): 58
• MANE Select transcript: NM_001077525

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26190
Approved symbol	MTMR14
Name	myotubularin related protein 14
Location	3p25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22405, FLJ90311, hJumpy, hEDTP
Ensembl gene	ENSG00000163719
Ensembl biotype	protein_coding
OMIM	611089
Entrez	64419

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 20 protein_coding, 6 nonsense_mediated_decay, 2 retained_intron

ENST00000296003, ENST00000351233, ENST00000353332, ENST00000414996, ENST00000416864, ENST00000420925, ENST00000430020, ENST00000431250, ENST00000437997, ENST00000447144, ENST00000449543, ENST00000480578, ENST00000606184, ENST00000863569, ENST00000863570, ENST00000863571, ENST00000863572, ENST00000863573, ENST00000863574, ENST00000863575, ENST00000863576, ENST00000936842, ENST00000936843, ENST00000958417, ENST00000958418, ENST00000958419, ENST00000958420, ENST00000958421

RefSeq mRNA: 36 — MANE Select: NM_001077525 NM_001077525, NM_001077526, NM_001400518, NM_001400519, NM_001400520, NM_001400521, NM_001400522, NM_001400523, NM_001400524, NM_001400525, NM_001400526, NM_001400527, NM_001400528, NM_001400529, NM_001400530, NM_001400531, NM_001400532, NM_001400533, NM_001400534, NM_001400535, NM_001400536, NM_001400537, NM_001400538, NM_001400539, NM_001400540, NM_001400541, NM_001400542, NM_001400543, NM_001400544, NM_001400545, NM_001400546, NM_001400547, NM_001400548, NM_001400549, NM_001400550, NM_022485

CCDS: CCDS43043, CCDS43044, CCDS43045

Canonical transcript exons

ENST00000296003 — 19 exons

Exon	Start	End
ENSE00001641056	9689964	9690143
ENSE00003510518	9688696	9688754
ENSE00003514157	9687821	9687891
ENSE00003516162	9671048	9671170
ENSE00003527791	9669432	9669492
ENSE00003545443	9685211	9685247
ENSE00003547018	9668719	9668794
ENSE00003547534	9677984	9678058
ENSE00003555512	9684888	9684964
ENSE00003555787	9653621	9653769
ENSE00003560337	9672685	9672758
ENSE00003581599	9697711	9697866
ENSE00003609957	9688944	9689082
ENSE00003623646	9684585	9684670
ENSE00003650681	9662267	9662375
ENSE00003675580	9677317	9677387
ENSE00003688305	9683178	9683244
ENSE00003899827	9701790	9702393
ENSE00003900096	9649505	9649742

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 96.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1628 / max 854.8363, expressed in 1822 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35217	29.1628	1822

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	96.39	gold quality
mononuclear cell	CL:0000842	96.35	gold quality
leukocyte	CL:0000738	96.29	gold quality
granulocyte	CL:0000094	95.64	gold quality
apex of heart	UBERON:0002098	94.47	gold quality
blood	UBERON:0000178	93.97	gold quality
gastrocnemius	UBERON:0001388	93.30	gold quality
muscle of leg	UBERON:0001383	92.97	gold quality
right atrium auricular region	UBERON:0006631	92.65	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.47	gold quality
bone marrow cell	CL:0002092	92.46	gold quality
heart left ventricle	UBERON:0002084	92.25	gold quality
cardiac ventricle	UBERON:0002082	92.06	gold quality
spleen	UBERON:0002106	91.78	gold quality
lymph node	UBERON:0000029	91.76	gold quality
cardiac atrium	UBERON:0002081	91.58	gold quality
calcaneal tendon	UBERON:0003701	91.58	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.53	gold quality
heart	UBERON:0000948	90.87	gold quality
bone marrow	UBERON:0002371	90.84	gold quality
type B pancreatic cell	CL:0000169	90.73	gold quality
muscle organ	UBERON:0001630	90.62	gold quality
skeletal muscle organ	UBERON:0014892	90.62	gold quality
upper lobe of left lung	UBERON:0008952	89.97	gold quality
skin of leg	UBERON:0001511	89.94	gold quality
right lung	UBERON:0002167	89.94	gold quality
tibial nerve	UBERON:0001323	89.61	gold quality
gluteal muscle	UBERON:0002000	89.58	gold quality
pancreatic ductal cell	CL:0002079	89.40	gold quality
upper lobe of lung	UBERON:0008948	89.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting MTMR14, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-323A-5P	98.59	65.13	651
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-5088-5P	97.97	64.28	487

Literature-anchored findings (GeneRIF, showing 6)

• C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation disrupts the catalytic activity in a patient with centronuclear myopathy. (PMID:17008356)
• Study identified a novel phosphoinositide phosphatase, JUMPY in sporadic cases of centronuclear myopathy; two missense variants that affect the enzymatic function were found (PMID:17008356)
• The authors uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14). (PMID:19590496)
• This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy. (PMID:20595810)
• Results demonstrated that MTMR14 expression is overexpressed in liver cancer. A loss-of-function study showed that knockdown of MTMR14 promotes cell apoptosis and inhibits cell migration, and inhibits tumor migration in vivo in a liver cancer peritoneal implantation nude mouse model. (PMID:30586604)
• A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging. (PMID:36528685)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtmr14	ENSDARG00000059642
mus_musculus	Mtmr14	ENSMUSG00000030269
rattus_norvegicus	Mtmr14	ENSRNOG00000007881
drosophila_melanogaster	EDTP	FBGN0027506

Protein

Protein identifiers

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 — Q8NCE2 (reviewed: Q8NCE2)

Alternative names: HCV NS5A-transactivated protein 4 splice variant A-binding protein 1, Myotubularin-related protein 14, Phosphatidylinositol-3-phosphate phosphatase, hJumpy

All UniProt accessions (9): B4DJ23, B4DQK9, C9JR61, C9JSR1, Q8NCE2, F8WBT3, F8WCC0, F8WCG0, F8WEA3

UniProt curated annotations — full annotation on UniProt →

Function. Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.

Disease relevance. Myopathy, centronuclear, 1 (CNM1) [MIM:160150] A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2. This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8NCE2-1	1	yes
Q8NCE2-2	2
Q8NCE2-3	3

RefSeq proteins (36): NP_001070993, NP_001070994, NP_001387447, NP_001387448, NP_001387449, NP_001387450, NP_001387451, NP_001387452, NP_001387453, NP_001387454, NP_001387455, NP_001387456, NP_001387457, NP_001387458, NP_001387459, NP_001387460, NP_001387461, NP_001387462, NP_001387463, NP_001387464, NP_001387465, NP_001387466, NP_001387467, NP_001387468, NP_001387469, NP_001387470, NP_001387471, NP_001387472, NP_001387473, NP_001387474, NP_001387475, NP_001387476, NP_001387477, NP_001387478, NP_001387479, NP_071930 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016130	Tyr_Pase_AS	Active_site
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR039802	MTMR14	Family
IPR039803	MTMR14_PH-GRAM	Domain

Enzyme classification (BRENDA):

• EC 3.1.3.64 — phosphatidylinositol-3-phosphatase (BRENDA: 10 organisms, 32 substrates, 7 inhibitors, 2 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
INOSITOL 1,3-BISPHOSPHATE	0.0008–0.0037	2

Catalyzed reactions (Rhea), 2 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:12316)
• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:39019)

UniProt features (34 total): binding site 10, sequence conflict 7, modified residue 6, region of interest 2, glycosylation site 2, splice variant 2, sequence variant 2, chain 1, mutagenesis site 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCE2-F1	70.64	0.48

Functional residue map

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

Catalytic / active sites (1): 330 (phosphocysteine intermediate)

Ligand- & substrate-binding residues (10): 336; 336; 382; 382; 333; 333; 334; 334; 335; 335

Post-translational modifications (6): 194, 518, 530, 580, 624, 638

Glycosylation sites (2): 226, 519

Mutagenesis-validated functional residues (1):

Position	Phenotype
330	decreased phosphatidylinositol-3-phosphate phosphatase activity.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-1632852	Macroautophagy
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-9612973	Autophagy

MSigDB gene sets: 340 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOCC_RUFFLE, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MACROAUTOPHAGY, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, DOUGLAS_BMI1_TARGETS_DN, GOBP_LIPID_BIOSYNTHETIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN

GO Biological Process (3): phosphatidylinositol biosynthetic process (GO:0006661), macroautophagy (GO:0016236), dephosphorylation (GO:0016311)

GO Molecular Function (5): phosphatidylinositol-3-phosphate phosphatase activity (GO:0004438), protein serine/threonine phosphatase activity (GO:0004722), phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (4): ruffle (GO:0001726), cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Autophagy	1
PI Metabolism	1
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
biosynthetic process	1
phosphatidylinositol metabolic process	1
autophagosome assembly	1
autophagy	1
phosphate-containing compound metabolic process	1
phosphatidylinositol monophosphate phosphatase activity	1
phosphoprotein phosphatase activity	1
phosphatidylinositol-3,5-bisphosphate phosphatase activity	1
binding	1
catalytic activity	1
cell leading edge	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

958 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTMR14	MTM1	Q13496	949
MTMR14	DNM2	P50570	900
MTMR14	RYR1	P21817	670
MTMR14	GOLGB1	Q14789	659
MTMR14	MTMR6	Q9Y217	654
MTMR14	CCDC78	A2IDD5	638
MTMR14	MTMR7	Q9Y216	629
MTMR14	WIPI1	Q5MNZ9	617
MTMR14	MTMR1	Q13613	609
MTMR14	MYF6	P23409	606
MTMR14	MTMR2	Q13614	584
MTMR14	NOL7	Q9UMY1	574
MTMR14	MTMR9	Q96QG7	515
MTMR14	MTMR4	Q9NYA4	513
MTMR14	AMMECR1L	Q6DCA0	512

IntAct

44 interactions, top by confidence:

A	B	Type	Score
TP53	BAG2	psi-mi:“MI:0914”(association)	0.640
TP53BP2	MTMR14	psi-mi:“MI:0915”(physical association)	0.560
MTMR14	TP53BP2	psi-mi:“MI:0915”(physical association)	0.560
FAM90A1	RFPL4A	psi-mi:“MI:0914”(association)	0.530
MTMR14	DNM1L	psi-mi:“MI:0915”(physical association)	0.400
MTMR14	TIE1	psi-mi:“MI:0915”(physical association)	0.370
MTMR14	LTK	psi-mi:“MI:0915”(physical association)	0.370
MTMR14	EPHB2	psi-mi:“MI:0915”(physical association)	0.370
MTMR14	EPHA7	psi-mi:“MI:0915”(physical association)	0.370
MTMR14	EPHA1	psi-mi:“MI:0915”(physical association)	0.370
CFTR	MTMR14	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
RASA1		psi-mi:“MI:0914”(association)	0.350
MTA2	EEF1E1	psi-mi:“MI:0914”(association)	0.350
DOK2	MYO1C	psi-mi:“MI:0914”(association)	0.350
SHC1	KDM1A	psi-mi:“MI:0914”(association)	0.350
RAB5A	PSMD14	psi-mi:“MI:0914”(association)	0.350
PEBP1	PRPSAP2	psi-mi:“MI:0914”(association)	0.350
ELK4	MYO1C	psi-mi:“MI:0914”(association)	0.350
CAV2	SURF4	psi-mi:“MI:0914”(association)	0.350
PRKD1	MYO1C	psi-mi:“MI:0914”(association)	0.350
MTA2	HSP90AA1	psi-mi:“MI:0914”(association)	0.350
RAB5A	EIF3CL	psi-mi:“MI:0914”(association)	0.350
PTPRR	MRPS14	psi-mi:“MI:0914”(association)	0.350

BioGRID (139): MTMR14 (Two-hybrid), MTMR14 (Affinity Capture-MS), MTMR14 (Affinity Capture-MS), MTMR14 (Affinity Capture-MS), TP53BP2 (Two-hybrid), ACSL3 (Affinity Capture-MS), ACSL4 (Affinity Capture-MS), ATXN10 (Affinity Capture-MS), GABARAP (Affinity Capture-MS), HSD17B12 (Affinity Capture-MS), IDE (Affinity Capture-MS), PLK1 (Affinity Capture-MS), POSTN (Affinity Capture-MS), RAB10 (Affinity Capture-MS), SCCPDH (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXT6, A0JMF6, A0JMK5, A2ALK8, A2BGG1, A6QLT4, A7MB43, G5ED68, O13819, O14830, P26045, P33402, P51432, Q09M05, Q13496, Q13613, Q15111, Q3USB7, Q4KWH5, Q4R6N0, Q4U2V3, Q52KU6, Q5EB32, Q5F452, Q5R6F6, Q5R9S3, Q5U581, Q62688, Q6AXQ4, Q6NU08, Q6TEL0, Q6XPS3, Q7TPM9, Q7ZXF1, Q8K394, Q8NCE2, Q8VE11, Q8VEL2, Q96EF0, Q96MI9

Diamond homologs: A6QLT4, P47147, Q13496, Q13615, Q5PQT2, Q5R9S3, Q6AXQ4, Q7ZXF1, Q8K296, Q8NCE2, Q8VEL2, Q91XS1, Q9NYA4, Q9Z2C5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	206
Likely benign	125
Benign	10

Top pathogenic / likely-pathogenic (0)

SpliceAI

2595 predictions. Top by Δscore:

Variant	Effect	Δscore
3:9653737:G:GT	donor_gain	1.0000
3:9653765:GACAC:G	donor_gain	1.0000
3:9653770:G:GG	donor_gain	1.0000
3:9671046:A:AG	acceptor_gain	1.0000
3:9671047:G:GG	acceptor_gain	1.0000
3:9671047:GA:G	acceptor_gain	1.0000
3:9671047:GAA:G	acceptor_gain	1.0000
3:9671047:GAAGT:G	acceptor_gain	1.0000
3:9671166:ATGAA:A	donor_gain	1.0000
3:9671167:TGAA:T	donor_gain	1.0000
3:9671168:GAA:G	donor_gain	1.0000
3:9671168:GAAG:G	donor_gain	1.0000
3:9671169:AA:A	donor_gain	1.0000
3:9671171:G:GG	donor_gain	1.0000
3:9671171:GT:G	donor_loss	1.0000
3:9671172:TAAG:T	donor_loss	1.0000
3:9672683:A:AG	acceptor_gain	1.0000
3:9672683:AGT:A	acceptor_gain	1.0000
3:9672684:G:GA	acceptor_gain	1.0000
3:9672684:GT:G	acceptor_gain	1.0000
3:9672684:GTG:G	acceptor_gain	1.0000
3:9672684:GTGT:G	acceptor_gain	1.0000
3:9672684:GTGTA:G	acceptor_gain	1.0000
3:9672755:CCAG:C	donor_loss	1.0000
3:9672756:CAGG:C	donor_loss	1.0000
3:9672758:GGTAG:G	donor_loss	1.0000
3:9672759:GT:G	donor_loss	1.0000
3:9672760:T:A	donor_loss	1.0000
3:9677315:A:AG	acceptor_gain	1.0000
3:9677316:G:GG	acceptor_gain	1.0000

AlphaMissense

4249 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:9662326:C:A	A123D	1.000
3:9662333:C:G	C125W	1.000
3:9662335:G:C	R126T	1.000
3:9662335:G:T	R126I	1.000
3:9662336:A:C	R126S	1.000
3:9662336:A:T	R126S	1.000
3:9662347:T:A	V130D	1.000
3:9668729:G:C	R143T	1.000
3:9668729:G:T	R143M	1.000
3:9668730:G:C	R143S	1.000
3:9668730:G:T	R143S	1.000
3:9668735:C:A	A145D	1.000
3:9671081:A:C	R196S	1.000
3:9671081:A:T	R196S	1.000
3:9671088:G:C	D199H	1.000
3:9671088:G:T	D199Y	1.000
3:9671089:A:C	D199A	1.000
3:9671089:A:T	D199V	1.000
3:9671098:T:C	L202P	1.000
3:9671101:T:C	L203P	1.000
3:9671134:T:C	L214P	1.000
3:9671138:G:A	M215I	1.000
3:9671138:G:C	M215I	1.000
3:9671138:G:T	M215I	1.000
3:9671143:A:T	E217V	1.000
3:9671144:G:C	E217D	1.000
3:9671144:G:T	E217D	1.000
3:9671153:G:C	K220N	1.000
3:9671153:G:T	K220N	1.000
3:9671157:A:G	K222E	1.000

dbSNP variants (sampled 300 via entrez): RS1000007810 (3:9660407 C>T), RS1000043173 (3:9667366 G>T), RS1000068009 (3:9661340 C>A), RS1000069632 (3:9698747 C>T), RS1000123355 (3:9661109 C>G,T), RS1000196019 (3:9659956 G>C), RS1000211336 (3:9676873 C>A), RS1000237135 (3:9692976 T>C), RS1000274999 (3:9664469 G>C), RS1000295173 (3:9687274 G>A,C), RS1000379780 (3:9697407 A>G), RS1000431903 (3:9687006 G>A), RS1000490282 (3:9659715 T>A), RS1000498146 (3:9672412 T>C), RS1000504592 (3:9684021 T>C,G)

Disease associations

OMIM: gene MIM:611089 | disease phenotypes: MIM:160150, MIM:614408

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant centronuclear myopathy	Moderate	Autosomal dominant

Mondo (1): autosomal dominant centronuclear myopathy (MONDO:0008048)

Orphanet (1): Autosomal dominant centronuclear myopathy (Orphanet:169189)

HPO phenotypes

58 total (30 of 58 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000467	Neck muscle weakness
HP:0000508	Ptosis
HP:0000544	External ophthalmoplegia
HP:0000597	Ophthalmoparesis
HP:0000883	Thin ribs
HP:0001048	Cavernous hemangioma
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001371	Flexion contracture
HP:0001436	Abnormality of the foot musculature
HP:0001520	Large for gestational age
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001771	Achilles tendon contracture
HP:0002021	Pyloric stenosis
HP:0002047	Malignant hyperthermia
HP:0002194	Delayed gross motor development
HP:0002460	Distal muscle weakness
HP:0002505	Loss of ambulation
HP:0002522	Areflexia of lower limbs
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002938	Lumbar hyperlordosis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003307	Hyperlordosis
HP:0003388	Easy fatigability

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003518_2	Daytime sleep phenotypes	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases oxidation	2
Smoke	decreases expression, increases abundance	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	increases expression	1
Caffeine	affects phosphorylation	1
Endosulfan	increases expression	1
Folic Acid	decreases expression	1
Lead	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Tetrachlorodibenzodioxin	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	increases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1XU	Abcam HeLa MTMR14 KO	Cancer cell line	Female
CVCL_SZ25	HAP1 MTMR14 (-) 1	Cancer cell line	Male
CVCL_SZ26	HAP1 MTMR14 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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