MYRF (myelin regulatory factor)

2014-11-01  

Identity

HGNC
LOCATION
11q12.2
LOCUSID
ALIAS
11orf9,C11orf9,CUGS,MMERV,MRF,Ndt80,pqn-47

Other Information

Locus ID:

NCBI: 745
MIM: 608329
HGNC: 1181
Ensembl: ENSG00000124920

Variants:

dbSNP: 745
ClinVar: 745
TCGA: ENSG00000124920
COSMIC: MYRF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124920ENST00000265460Q9Y2G1
ENSG00000124920ENST00000278836Q9Y2G1
ENSG00000124920ENST00000389602B4DHB2

Expression (GTEx)

0
50
100
150
200
250

References

Pubmed IDYearTitleCitations
361295752023Truncation mutations in MYRF underlie primary angle closure glaucoma.1
366951662023Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?1
361295752023Truncation mutations in MYRF underlie primary angle closure glaucoma.1
366951662023Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?1
336703132021Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.2
337985532021Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.0
338646202021MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases.5
351363452021Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.1
336703132021Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.2
337985532021Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.0
338646202021MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases.5
351363452021Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.1
319649082020Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.9
320524052020The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.10
329979742020Pancreatic Cancer Cells Require the Transcription Factor MYRF to Maintain ER Homeostasis.11

Citation

Dessen P

MYRF (myelin regulatory factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70639/myrf-(myelin-regulatory-factor)