MYMX

Summary

MYMX (myomixer, myoblast fusion factor, HGNC:52391) is a protein-coding gene on chromosome 6p21.1, encoding Protein myomixer (A0A1B0GTQ4). Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers.

Involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Implicated in Carey-Fineman-Ziter syndrome.

Source: NCBI Gene 101929726 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Carey-Fineman-Ziter syndrome (Strong, GenCC)
• Clinical variants (ClinVar): 5 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 59
• MANE Select transcript: NM_001315494

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52391
Approved symbol	MYMX
Name	myomixer, myoblast fusion factor
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	MINION
Ensembl gene	ENSG00000262179
Ensembl biotype	protein_coding
OMIM	619912
Entrez	101929726

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000573382, ENST00000576476, ENST00000912772

RefSeq mRNA: 2 — MANE Select: NM_001315494 NM_001315494, NM_001347931

CCDS: CCDS83093

Canonical transcript exons

ENST00000573382 — 2 exons

Exon	Start	End
ENSE00002651528	44217450	44218234
ENSE00002665155	44216926	44216968

Expression profiles

Bgee: expression breadth ubiquitous, 121 present calls, max score 85.68.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3801 / max 139.6665, expressed in 247 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67980	1.3801	247

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.68	gold quality
type B pancreatic cell	CL:0000169	79.65	gold quality
olfactory bulb	UBERON:0002264	79.55	gold quality
adipose tissue	UBERON:0001013	78.06	gold quality
connective tissue	UBERON:0002384	76.15	gold quality
subcutaneous adipose tissue	UBERON:0002190	75.73	gold quality
adipose tissue of abdominal region	UBERON:0007808	73.24	gold quality
omental fat pad	UBERON:0010414	72.57	gold quality
peritoneum	UBERON:0002358	72.52	gold quality
body of pancreas	UBERON:0001150	67.84	gold quality
body of stomach	UBERON:0001161	64.36	gold quality
mammary gland	UBERON:0001911	63.67	gold quality
thoracic mammary gland	UBERON:0005200	63.67	gold quality
secondary oocyte	CL:0000655	63.10	gold quality
cerebellar vermis	UBERON:0004720	63.02	gold quality
hair follicle	UBERON:0002073	62.56	gold quality
skin of hip	UBERON:0001554	62.18	gold quality
stomach	UBERON:0000945	61.28	gold quality
tongue squamous epithelium	UBERON:0006919	61.18	gold quality
mammary duct	UBERON:0001765	60.57	silver quality
mucosa of urinary bladder	UBERON:0001259	60.32	gold quality
orbitofrontal cortex	UBERON:0004167	60.20	gold quality
nasal cavity epithelium	UBERON:0005384	60.17	gold quality
diaphragm	UBERON:0001103	60.13	gold quality
vena cava	UBERON:0004087	60.03	gold quality
fundus of stomach	UBERON:0001160	59.85	gold quality
thymus	UBERON:0002370	59.83	gold quality
epithelium of mammary gland	UBERON:0003244	59.70	silver quality
left coronary artery	UBERON:0001626	59.12	gold quality
upper arm skin	UBERON:0004263	58.44	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting MYMX, 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-4425	100.00	67.59	1049
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-3145-5P	98.57	67.83	900

Literature-anchored findings (GeneRIF, showing 2)

• This articles reviews and discusses the latest studies related to Myomaker and Myomixer-Myomerger-Minion, including the discovery, structure, expression pattern, functions of the two proteins. [review] (PMID:31642939)
• LncRNA OIP5-AS1-directed miR-7 degradation promotes MYMX production during human myogenesis. (PMID:35736212)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mymx	ENSMUSG00000079471
rattus_norvegicus	Mymx	ENSRNOG00000042497

Protein

Protein identifiers

Protein myomixer — A0A1B0GTQ4 (reviewed: A0A1B0GTQ4)

Alternative names: Microprotein inducer of fusion

All UniProt accessions (1): A0A1B0GTQ4

UniProt curated annotations — full annotation on UniProt →

Function. Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK. Acts by generating membrane stresses via its extracellular C-terminus, leading to drive fusion pore formation. Acts independently of MYMK. Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers.

Subunit / interactions. Interacts with MYMK.

Subcellular location. Cell membrane.

Disease relevance. Carey-Fineman-Ziter syndrome 2 (CFZS2) [MIM:619941] An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. The AxLyCxL motif is required for myoblast fusion.

Similarity. Belongs to the MYMX family.

RefSeq proteins (2): NP_001302423, NP_001334860 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039014	Myomixer	Family

Pfam: PF21950

UniProt features (7 total): topological domain 2, chain 1, transmembrane region 1, region of interest 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTQ4-F1	72.15	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 151 (showing top): GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, GOBP_MEMBRANE_FUSION, GOBP_GROWTH, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGENERATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, GOBP_TISSUE_REGENERATION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_MYOTUBE_DIFFERENTIATION, GOBP_PLASMA_MEMBRANE_FUSION, GOBP_MEMBRANE_ORGANIZATION, GOBP_SYNCYTIUM_FORMATION, GOBP_MYOBLAST_FUSION

GO Biological Process (6): myoblast fusion (GO:0007520), myoblast fusion involved in skeletal muscle regeneration (GO:0014905), skeletal muscle tissue regeneration (GO:0043403), obsolete plasma membrane fusion (GO:0045026), skeletal muscle organ development (GO:0060538), muscle organ development (GO:0007517)

GO Molecular Function (0):

GO Cellular Component (4): Golgi membrane (GO:0000139), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
syncytium formation by cell-cell fusion	1
myotube differentiation	1
myoblast fusion	1
myotube differentiation involved in skeletal muscle regeneration	1
skeletal muscle tissue regeneration	1
tissue regeneration	1
muscle organ development	1
animal organ development	1
muscle structure development	1
Golgi apparatus	1
bounding membrane of organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYMX	MYMK	A6NI61	961
MYMX	STRIT1	P0DN84	534
MYMX	SMIM38	A0A286YFK9	525
MYMX	TMDD1	P0DPE3	507
MYMX	MYOG	P15173	488
MYMX	FAM240C	A0A1B0GVR7	480
MYMX	TMEM26	Q6ZUK4	441
MYMX	MYOD1	P15172	440
MYMX	SPAAR	A0A1B0GVQ0	423
MYMX	SMIM28	A0A1B0GU29	419
MYMX	MIEF1	L0R8F8	419
MYMX	ADGRB3	O60242	418
MYMX	PAX7	P23759	399
MYMX	ASDURF	L0R819	397
MYMX	MYF5	P13349	392

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTQ4, A0A286YFK9, A0A291NUG3, A3PNA8, A4WCS4, A4WNL6, A6TBY2, A7HIY9, A8LMA3, B1VPE7, B4TBK3, B4UKG2, B5BCL0, B5EZL8, B5FPH7, B5R317, B5RCG1, B5XNU5, B8JDK6, B8XX90, B9KNZ3, C6DA53, O54625, P0C737, P0C738, P0C739, P0DJZ4, P0DJZ5, P0DQW1, P10306, P62816, P62817, Q00336, Q00644, Q16A98, Q1GXL5, Q28487, Q2IHR6, Q2Q5T5, Q2RP13

Diamond homologs: A0A1B0GTQ4, Q2Q5T5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	0
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1693533	NM_001315494.2(MYMX):c.136C>T (p.Arg46Ter)	Pathogenic
3747851	NM_001315494.2(MYMX):c.107T>A (p.Leu36Ter)	Pathogenic
3747852	NM_001315494.2(MYMX):c.255A>G (p.Ter85Trp)	Pathogenic
4845832	NM_001315494.2(MYMX):c.239T>A (p.Leu80Ter)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

499 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:44217625:T:C	C52R	0.874
6:44217545:C:A	A25D	0.836
6:44217533:C:A	A21D	0.771
6:44217638:T:A	I56N	0.736
6:44217629:T:C	L53P	0.714
6:44217643:A:C	S58R	0.697
6:44217645:C:A	S58R	0.697
6:44217645:C:G	S58R	0.697
6:44217629:T:G	L53R	0.675
6:44217634:T:C	F55L	0.675
6:44217636:C:A	F55L	0.675
6:44217636:C:G	F55L	0.675
6:44217617:T:C	L49S	0.648
6:44217627:T:G	C52W	0.648
6:44217536:C:A	A22D	0.646
6:44217578:T:C	L36S	0.631
6:44217629:T:A	L53Q	0.629
6:44217581:C:A	A37D	0.626
6:44217638:T:C	I56T	0.621
6:44217557:T:A	L29H	0.611
6:44217563:C:A	P31H	0.610
6:44217569:T:G	L33R	0.578
6:44217547:C:A	R26S	0.577
6:44217563:C:G	P31R	0.574
6:44217608:G:T	R46L	0.567

dbSNP variants (sampled 300 via entrez): RS1000101964 (6:44199410 C>G,T), RS1000178211 (6:44215804 A>T), RS1000228333 (6:44206785 G>A,C), RS1000278368 (6:44212731 G>A), RS1000294888 (6:44212959 T>G), RS1000330976 (6:44212371 C>T), RS1000476023 (6:44199752 C>G), RS1000488400 (6:44218369 G>A), RS1000533387 (6:44194584 C>A,G), RS1000562165 (6:44204819 T>A), RS1000578799 (6:44207156 G>A,T), RS1000640448 (6:44201165 C>T), RS1000648165 (6:44211430 G>A,T), RS1000851430 (6:44217742 C>A), RS1000989093 (6:44194099 C>A,T)

Disease associations

OMIM: gene MIM:619912 | disease phenotypes: MIM:619941

GenCC curated gene-disease

Disease	Classification	Inheritance
Carey-Fineman-Ziter syndrome	Strong	Autosomal recessive

Mondo (2): Carey-Fineman-Ziter syndrome 2 (MONDO:0100292), (MONDO:0009700)

Orphanet (0):

HPO phenotypes

59 total (30 of 59 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000126	Hydronephrosis
HP:0000162	Glossoptosis
HP:0000175	Cleft palate
HP:0000201	Pierre-Robin sequence
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000220	Velopharyngeal insufficiency
HP:0000233	Thin vermilion border
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000338	Hypomimic face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000411	Protruding ear
HP:0000419	Abnormal nasal septum morphology
HP:0000430	Underdeveloped nasal alae
HP:0000463	Anteverted nares
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000634	Impaired ocular abduction
HP:0000678	Dental crowding
HP:0000807	Glanular hypospadias
HP:0001156	Brachydactyly
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001324	Muscle weakness
HP:0001508	Failure to thrive

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2396243	MYMX, POLR1C		0.00	0

Clinical trials (associated diseases)

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