MYRF (myelin regulatory factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
745
Gene name Gene Name - the full gene name approved by the HGNC.
Myelin regulatory factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYRF
Synonyms (NCBI Gene) Gene synonyms aliases
11orf9, C11orf9, CUGS, MMERV, MRF, NNO1, Ndt80, pqn-47
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also direct
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
SNP ID Visualize variation Clinical significance Consequence
rs769274302 C>-,CC Pathogenic Coding sequence variant, frameshift variant
rs1057518279 G>A Pathogenic, uncertain-significance Splice donor variant
rs1367545625 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained
rs1382225004 G>A Pathogenic Missense variant, coding sequence variant
rs1565286228 GCACCGGGCCCCCCATC>T Pathogenic Coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(57)
miRTarBase ID miRNA Experiments Reference
MIRT005688 hsa-miR-145-5p Luciferase reporter assay 20737575
MIRT005688 hsa-miR-145-5p Luciferase reporter assay 20737575
MIRT038236 hsa-miR-330-5p CLASH 23622248
MIRT656008 hsa-miR-8080 HITS-CLIP 23824327
MIRT656006 hsa-miR-3120-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(47)
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding ISS
GO:0003700 Function DNA-binding transcription factor activity IBA
GO:0003700 Function DNA-binding transcription factor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608329 1181 ENSG00000124920
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y2G1
Protein name Myelin regulatory factor (EC 3.4.-.-) (Myelin gene regulatory factor) [Cleaved into: Myelin regulatory factor, N-terminal; Myelin regulatory factor, C-terminal]
Protein function [Myelin regulatory factor]: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous sy
PDB 5YHU , 5ZHU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05224 NDT80_PhoG 393 → 540 NDT80 / PhoG like DNA-binding family Family
PF13884 Peptidase_S74 587 → 647 Chaperone of endosialidase Domain
PF13887 MRF_C1 667 → 702 Myelin gene regulatory factor -C-terminal domain 1 Domain
PF13888 MRF_C2 1016 → 1150 Myelin gene regulatory factor C-terminal domain 2 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in lung, ARPE-19 cell line, brainstem, uterus and, to a lesser extent, in basal ganglion and liver. Weakly expressed in cerebellum and retina. {ECO:0000269|PubMed:10828591}.
Sequence 
MEVVDETEALQRFFEGHDINGALEPSNIDTSILEEYISKEDASDLCFPDISAPASSASYS
HGQPAMPGSSGVHHLSPPGGGPSPGRHGPLPPPGYGTPLNCNNNNGMGAAPKPFPGGTGP
PIKAEPKAPYAPGTLPDSPPDSGSEAYSPQQVNEPHLLRTITPETLCHVGVPSRLEHPPP
PPAHLPGPPPPPPPPPHYPVLQRDLYMKAEPPIPHYAAMGQGLVPTDLHHTQQSQMLHQL
LQQHGAELPTHPSKKRKHSESPPSTLNAQMLNGMIKQEPGTVTALPLHPTRAPSPPWPPQ
GPLSPGPGSLPLSIARVQTPPWHPPGAPSPGLLQDSDSLSGSYLDPNYQSIKWQPHQQNK
WATLYDANYKELPMLTYRVDADKGFNFSVGDDAFVCQKKNHFQVTVYIGMLGEPKYVKTP
EGLKPLDCFYLKLHGVKLEALNQSINIEQSQSDRSKRPFNPVTVNLPPEQVTKVTVGRLH
FSETTANNMRKKGKPNPDQRYFMLVVALQAHAQNQNYTLAAQISERIIVRASNPGQFESD
SDVLWQRAQVPDTVFHHGRVGINTDRPDEALVVHGNVKVMGSLMHPSDLRAKEHVQEVDT
TEQLKRISRMRLVHYRYKPEFAASAGIEATAPETGVIAQEVKEILPEAVKDTGDMVFANG
KTIENFLVVNKERIFMENVGAVKELCKLTDNLETRIDELERWSHKLAKLRRLDSLKSTGS
SGAFSHAGSQFSRAGSVPHKKRPPKVASKSSSVVPDQACISQRFLQGTIIALVVVMAFSV
VSMSTLYVLSLRTEEDLVDTDGSFAVSTSCLLALLRPQPPGGSEALCPWSSQSFGTTQLR
QSPLTTGLPGIQPSLLLVTTSLTSSAPGSAVRTLDMCSSHPCPVICCSSPTTNPTTGPSL
GPSFNPGHVLSPSPSPSTNRSGPSQMALLPVTNIRAKSWGLSVNGIGHSKHHKSLEPLAS
PAVPFPGGQGKAKNSPSLGFHGRARRGALQSSVGPAEPTWAQGQSASLLAEPVPSLTSIQ
VLENSMSITSQYCAPGDACRPGNFTYHIPVSSGTPLHLSLTLQMNSSSPVSVVLCSLRSK
EEPCEEGSLPQSLHTHQDTQGTSHRWPITILSFREFTYHFRVALLGQANCSSEALAQPAT
DYHFHFYRLCD
Sequence length 1151
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiac-Urogenital Syndrome cardiac-urogenital syndrome rs769274302, rs1565304230, rs1565295395, rs1565295550, rs1565286228, rs1565307564, rs1565308384 N/A
Encephalitis/Encephalopathy With Reversible Myelin Vacuolization encephalitis/encephalopathy, mild, with reversible myelin vacuolization rs1565295286 N/A
Nanophthalmos Nanophthalmos 1 rs1591137064 N/A
Nonimmune Hydrops Fetalis non-immune hydrops fetalis rs769274302 N/A
Show/Hide Unknown Diseases (11)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Age of onset of adult onset asthma, Asthma (adult onset) N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Show/Hide Text Mining Associations (37)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 29476661
Anophthalmia with pulmonary hypoplasia Associate 32997974
Brain Injuries Traumatic Associate 32253986
Breast Neoplasms Associate 40430008
Carcinoma Pancreatic Ductal Associate 32997974
Cerebral Infarction Associate 36193932
Cerebral Ventricle Neoplasms Associate 37584388
Chronic Disease Associate 35051193
Colorectal Neoplasms Associate 29258461
Coronary Artery Disease Associate 23383292, 27004414