U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MYMK myomaker, myoblast fusion factor [ Homo sapiens (human) ]

Gene ID: 389827, updated on 24-Dec-2022

Summary

Official Symbol
MYMKprovided by HGNC
Official Full Name
myomaker, myoblast fusion factorprovided by HGNC
Primary source
HGNC:HGNC:33778
See related
Ensembl:ENSG00000187616 MIM:615345; AllianceGenome:HGNC:33778
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMEM8C; TMEM226; MYOMAKER
Summary
Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MYMK in Genome Data Viewer
Location:
9q34.2
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133514586..133524959, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145728593..145738968, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136379708..136390081, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 2 member 6 Neighboring gene uncharacterized LOC102723855 Neighboring gene ADAMTS like 2 Neighboring gene uncharacterized LOC124902296 Neighboring gene family with sequence similarity 163 member B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in myoblast fusion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in myoblast fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in myoblast fusion involved in skeletal muscle regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in plasma membrane fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of skeletal muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein myomaker
Names
myoblast fusion maker
transmembrane protein 226
transmembrane protein 8C

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080483.3NP_001073952.1  protein myomaker

    See identical proteins and their annotated locations for NP_001073952.1

    Status: VALIDATED

    Source sequence(s)
    BX324209
    Consensus CDS
    CCDS35170.1
    UniProtKB/Swiss-Prot
    A6NI61
    Related
    ENSP00000419712.2, ENST00000339996.4
    Conserved Domains (1) summary
    pfam12036
    Location:5185
    DUF3522; Protein of unknown function (DUF3522)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133514586..133524959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145728593..145738968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)