MYMX (myomixer, myoblast fusion factor) - Rat Genome Database

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Gene: MYMX (myomixer, myoblast fusion factor) Homo sapiens
Analyze
Symbol: MYMX
Name: myomixer, myoblast fusion factor
RGD ID: 12904116
HGNC Page HGNC:52391
Description: Involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to be located in membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Implicated in Carey-Fineman-Ziter syndrome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CFZS2; hMINION; microprotein inducer of fusion; MINION; myomerger; uncharacterized LOC101929726
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38644,192,721 - 44,218,234 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl644,216,926 - 44,218,234 (+)EnsemblGRCh38hg38GRCh38
GRCh37644,184,663 - 44,185,971 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6p21.1NCBI
HuRef643,906,811 - 43,908,115 (+)NCBIHuRef
CHM1_1644,188,410 - 44,189,713 (+)NCBICHM1_1
T2T-CHM13v2.0644,051,103 - 44,052,410 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal nasal septum morphology  (IAGP)
Abnormal skeletal muscle morphology  (IAGP)
Abnormality of the larynx  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the pectoralis major muscle  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the tongue  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Brachydactyly  (IAGP)
Cerebral calcification  (IAGP)
Cleft palate  (IAGP)
Cranial nerve paralysis  (IAGP)
Dental crowding  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Epicanthus  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Glandular hypospadias  (IAGP)
Glossoptosis  (IAGP)
Growth delay  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hooded upper eyelid  (IAGP)
Hydronephrosis  (IAGP)
Hypernasal speech  (IAGP)
Hypertensive crisis  (IAGP)
Hypomimic face  (IAGP)
Hypotonia  (IAGP)
Impaired ocular abduction  (IAGP)
Increased overbite  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Laryngeal stenosis  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Muscle weakness  (IAGP)
Myopathy  (IAGP)
Pes cavus  (IAGP)
Pes valgus  (IAGP)
Pierre-Robin sequence  (IAGP)
Posteriorly rotated ears  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Scoliosis  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Talipes equinovarus  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Ulnar deviation of finger  (IAGP)
Underdeveloped nasal alae  (IAGP)
Velopharyngeal insufficiency  (IAGP)
Ventriculomegaly  (IAGP)
Weakness of facial musculature  (IAGP)
References
Additional References at PubMed
PMID:21873635   PMID:28386024   PMID:28569745   PMID:28569755   PMID:31642939   PMID:35642635   PMID:35736212  


Genomics

Comparative Map Data
MYMX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38644,192,721 - 44,218,234 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl644,216,926 - 44,218,234 (+)EnsemblGRCh38hg38GRCh38
GRCh37644,184,663 - 44,185,971 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6p21.1NCBI
HuRef643,906,811 - 43,908,115 (+)NCBIHuRef
CHM1_1644,188,410 - 44,189,713 (+)NCBICHM1_1
T2T-CHM13v2.0644,051,103 - 44,052,410 (+)NCBIT2T-CHM13v2.0
Mymx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391745,911,887 - 45,913,122 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1745,911,897 - 45,913,028 (-)EnsemblGRCm39 Ensembl
GRCm381745,600,961 - 45,602,196 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1745,600,971 - 45,602,102 (-)EnsemblGRCm38mm10GRCm38
MGSCv371745,737,916 - 45,739,051 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361745,064,552 - 45,065,496 (-)NCBIMGSCv36mm8
MGSCv361744,621,222 - 44,622,166 (-)NCBIMGSCv36mm8
Cytogenetic Map17CNCBI
cM Map1722.59NCBI
Mymx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8922,894,524 - 22,895,701 (+)NCBIGRCr8
mRatBN7.2915,397,086 - 15,398,263 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl915,397,144 - 15,398,263 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx923,983,681 - 23,984,858 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0929,046,358 - 29,047,535 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0927,347,118 - 27,348,295 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0917,781,397 - 17,783,074 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl917,782,395 - 17,782,664 (+)EnsemblRnor6.0rn6Rnor6.0
Celera913,140,601 - 13,142,278 (+)NCBICelera
Cytogenetic Map9q12NCBI
MYMX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2558,719,590 - 58,722,520 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1654,589,673 - 54,592,605 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0643,812,606 - 43,814,252 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1645,096,551 - 45,097,878 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl645,097,114 - 45,097,368 (+)Ensemblpanpan1.1panPan2
MYMX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11212,626,482 - 12,630,058 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1212,651,891 - 12,655,481 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01213,108,904 - 13,112,493 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1213,111,742 - 13,111,996 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11212,634,365 - 12,637,954 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01212,722,315 - 12,725,907 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01212,816,043 - 12,819,633 (+)NCBIUU_Cfam_GSD_1.0
Mymx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494648,095,049 - 48,096,795 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647615,863,807 - 15,864,161 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647615,863,807 - 15,864,357 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110261530
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl739,216,513 - 39,216,779 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1739,215,933 - 39,217,275 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MYMX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366604444,270,375 - 44,271,682 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mymx
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475415,637,322 - 15,637,883 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYMX
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1		 pathogenic
GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3 copy number gain See cases [RCV000140726] Chr6:43656888..44382430 [GRCh38]
Chr6:43624625..44350167 [GRCh37]
Chr6:43732603..44458145 [NCBI36]
Chr6:6p21.1		 likely benign|uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1		 pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3		 pathogenic
NM_001315494.2(MYMX):c.136C>T (p.Arg46Ter) single nucleotide variant Carey-Fineman-Ziter syndrome 2 [RCV002260936] Chr6:44217607 [GRCh38]
Chr6:44185344 [GRCh37]
Chr6:6p21.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:376
Count of miRNA genes:338
Interacting mature miRNAs:360
Transcripts:ENST00000573382, ENST00000576476
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3 15 2 305 6 4 5 1 5 409 6
Low 983 903 466 164 350 42 2501 532 564 181 606 709 122 790 1490 2
Below cutoff 1194 1289 901 279 458 240 1198 1362 1020 153 627 676 42 5 1034 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000573382   ⟹   ENSP00000490143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,216,926 - 44,218,234 (+)Ensembl
RefSeq Acc Id: ENST00000576476   ⟹   ENSP00000489797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,216,962 - 44,218,098 (+)Ensembl
RefSeq Acc Id: NM_001315494   ⟹   NP_001302423
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,216,926 - 44,218,234 (+)NCBI
CHM1_1644,188,417 - 44,189,713 (+)NCBI
T2T-CHM13v2.0644,051,103 - 44,052,410 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347931   ⟹   NP_001334860
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,216,926 - 44,218,234 (+)NCBI
T2T-CHM13v2.0644,051,103 - 44,052,410 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446300   ⟹   XP_024302068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,192,721 - 44,218,234 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001302423 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334860 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302068 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A1B0GTQ4 (Get FASTA)   NCBI Sequence Viewer  
  ASU50679 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000489797
  ENSP00000489797.1
  ENSP00000490143
  ENSP00000490143.1
Reference Protein Sequences
RefSeq Acc Id: NP_001302423   ⟸   NM_001315494
- Peptide Label: precursor
- UniProtKB: A0A1B0GTQ4 (UniProtKB/TrEMBL),   A0A223PZB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302068   ⟸   XM_024446300
- Peptide Label: isoform X1
- UniProtKB: A0A1B0GTQ4 (UniProtKB/Swiss-Prot),   A0A223PZB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334860   ⟸   NM_001347931
- Peptide Label: precursor
- UniProtKB: A0A1B0GTQ4 (UniProtKB/Swiss-Prot),   A0A223PZB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490143   ⟸   ENST00000573382
RefSeq Acc Id: ENSP00000489797   ⟸   ENST00000576476

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1B0GTQ4-F1-model_v2 AlphaFold A0A1B0GTQ4 1-84 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:52391 AgrOrtholog
COSMIC MYMX COSMIC
Ensembl Genes ENSG00000262179 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000573382 ENTREZGENE
  ENST00000573382.3 UniProtKB/Swiss-Prot
  ENST00000576476 ENTREZGENE
  ENST00000576476.1 UniProtKB/Swiss-Prot
GTEx ENSG00000262179 GTEx
HGNC ID HGNC:52391 ENTREZGENE
Human Proteome Map MYMX Human Proteome Map
InterPro Myomixer UniProtKB/Swiss-Prot
KEGG Report hsa:101929726 UniProtKB/Swiss-Prot
NCBI Gene MYMX ENTREZGENE
OMIM 619912 OMIM
PANTHER PROTEIN MYOMIXER UniProtKB/Swiss-Prot
  PTHR41686 UniProtKB/Swiss-Prot
PharmGKB PA166181577 PharmGKB
UniProt A0A1B0GTQ4 ENTREZGENE
  A0A223PZB9 ENTREZGENE
  MYMX_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A223PZB9 UniProtKB/Swiss-Prot