Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	745
Gene name	Myelin regulatory factor
Gene symbol	MYRF
Synonyms (NCBI Gene)	11orf9C11orf9CUGSMMERVMRFNNO1Ndt80pqn-47
Chromosome	11
Chromosome location	11q12.2
Summary	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

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
rs1565295267	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1565295286	A>G	Pathogenic	Coding sequence variant, missense variant
rs1565295395	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1565295550	G>A	Pathogenic	Coding sequence variant, missense variant
rs1565304230	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565307564	A>G	Pathogenic	Coding sequence variant, missense variant
rs1565308384	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1591137064	C>-	Pathogenic	Coding sequence variant, frameshift variant

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
MIRT656005	hsa-miR-3938	HITS-CLIP	23824327
MIRT656004	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656003	hsa-miR-4638-3p	HITS-CLIP	23824327
MIRT656002	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT656001	hsa-miR-378b	HITS-CLIP	23824327
MIRT656000	hsa-miR-378c	HITS-CLIP	23824327
MIRT655999	hsa-miR-378d	HITS-CLIP	23824327
MIRT655998	hsa-miR-378e	HITS-CLIP	23824327
MIRT655997	hsa-miR-378f	HITS-CLIP	23824327
MIRT655996	hsa-miR-378h	HITS-CLIP	23824327
MIRT655995	hsa-miR-378i	HITS-CLIP	23824327
MIRT655994	hsa-miR-422a	HITS-CLIP	23824327
MIRT655993	hsa-miR-623	HITS-CLIP	23824327
MIRT655992	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655991	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655990	hsa-miR-1299	HITS-CLIP	23824327
MIRT655989	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT655988	hsa-miR-4782-5p	HITS-CLIP	23824327
MIRT655987	hsa-miR-5706	HITS-CLIP	23824327
MIRT655986	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655985	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT495941	hsa-miR-17-3p	PAR-CLIP	22291592
MIRT495940	hsa-miR-2861	PAR-CLIP	22291592
MIRT495939	hsa-miR-376a-3p	PAR-CLIP	22291592
MIRT495938	hsa-miR-376b-3p	PAR-CLIP	22291592
MIRT656008	hsa-miR-8080	HITS-CLIP	23824327
MIRT656006	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT656005	hsa-miR-3938	HITS-CLIP	23824327
MIRT656004	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656003	hsa-miR-4638-3p	HITS-CLIP	23824327
MIRT656002	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT656001	hsa-miR-378b	HITS-CLIP	23824327
MIRT656000	hsa-miR-378c	HITS-CLIP	23824327
MIRT655999	hsa-miR-378d	HITS-CLIP	23824327
MIRT655998	hsa-miR-378e	HITS-CLIP	23824327
MIRT655997	hsa-miR-378f	HITS-CLIP	23824327
MIRT655996	hsa-miR-378h	HITS-CLIP	23824327
MIRT655995	hsa-miR-378i	HITS-CLIP	23824327
MIRT655994	hsa-miR-422a	HITS-CLIP	23824327
MIRT655993	hsa-miR-623	HITS-CLIP	23824327
MIRT655992	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT655991	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT655990	hsa-miR-1299	HITS-CLIP	23824327
MIRT655989	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT655988	hsa-miR-4782-5p	HITS-CLIP	23824327
MIRT655987	hsa-miR-5706	HITS-CLIP	23824327
MIRT655986	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655985	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT495941	hsa-miR-17-3p	PAR-CLIP	22291592
MIRT495940	hsa-miR-2861	PAR-CLIP	22291592
MIRT495939	hsa-miR-376a-3p	PAR-CLIP	22291592
MIRT495938	hsa-miR-376b-3p	PAR-CLIP	22291592

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
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014003	Process	Oligodendrocyte development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016540	Process	Protein autoprocessing	IBA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016540	Process	Protein autoprocessing	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0022010	Process	Central nervous system myelination	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0031643	Process	Positive regulation of myelination	ISS
GO:0032286	Process	Central nervous system myelin maintenance	IBA
GO:0032286	Process	Central nervous system myelin maintenance	IEA
GO:0032286	Process	Central nervous system myelin maintenance	ISS
GO:0035902	Process	Response to immobilization stress	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042802	Function	Identical protein binding	IPI	23966832
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	ISS
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA

MIM	HGNC	e!Ensembl
608329	1181	ENSG00000124920

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

149

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the genitourinary system	Likely pathogenic; Pathogenic	rs1565295550, rs762143393, rs2066051319, rs2066302424, rs1027079885, rs2066382188, rs2066445430	RCV001291520 RCV001291138 RCV001291519 RCV001291139 RCV001291140 RCV001291141 RCV001291137
Cardiac-urogenital syndrome	Likely pathogenic; Pathogenic	rs2135897895, rs2135782176, rs2135840297, rs2135791768, rs753113267, rs2540883016, rs2540953908, rs2540946087, rs1202514159, rs1565304230, rs1565295395, rs1565295550, rs1367545625, rs1565286228, rs1565307564 View all (5 more)	RCV001358683 RCV002086732 RCV002071033 RCV002251061 RCV002272789 RCV002291233 RCV003148241 RCV003985975 RCV003991316 RCV000736003 RCV000736004 RCV000758213 RCV005431916 RCV000786768 RCV000786766 RCV000786767 RCV002468614 RCV001194632 RCV001194628 RCV001267679
Congenital diaphragmatic hernia	Likely pathogenic; Pathogenic	rs1565295550, rs2066051319, rs1027079885, rs2066445430	RCV001291520 RCV001291519 RCV001291140 RCV001291137
Dextrocardia	Likely pathogenic	rs762143393	RCV001254676
Disorder of sexual differentiation	Likely pathogenic; Pathogenic	rs2135748075, rs2066528136	RCV001568316 RCV001568317
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	Pathogenic	rs2540953908, rs1565295286	RCV003148240 RCV000679810
Heart, malformation of	Likely pathogenic; Pathogenic	rs1565295550, rs762143393, rs2066051319, rs2066302424, rs1027079885, rs2066382188, rs2066445430	RCV001291520 RCV001291138 RCV001291519 RCV001291139 RCV001291140 RCV001291141 RCV001291137
MYRF-related disorder	Likely pathogenic; Pathogenic	rs2135856808, rs2541005761, rs2540930253, rs2540954236, rs2540949362, rs2540892544, rs1565295286	RCV001733832 RCV003335923 RCV004527900 RCV004529649 RCV004528050 RCV004528752 RCV004531931
Nanophthalmos 1	Pathogenic	rs1591137064	RCV000786043
Neurodevelopmental disorder	Likely pathogenic	rs2135843880	RCV002277661
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs769274302	RCV001376017

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs7943728	RCV005911357
Developmental disorder	Uncertain significance	rs2135748046	RCV001843786
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2540999101	RCV004557827
Prostate cancer	Uncertain significance	rs193921094	RCV000149201
Scimitar syndrome	Uncertain significance	rs200349251, rs399122	RCV001823318 RCV001823319

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Diabetes Mellitus	Associate	27004414
Diabetes Mellitus Type 2	Associate	27004414
Disorder of Sex Development 46 XY	Associate	37147882
Disorders of Sex Development	Associate	35432193
Fasciculation	Associate	23404842
Fibrosis	Associate	29446546
Glaucoma Angle Closure	Associate	35136345
Heart Defects Congenital	Associate	30532227, 37584388
Heart Diseases	Associate	37584388
Hernias Diaphragmatic Congenital	Associate	30532227
Hyperopia	Associate	33203948
Hypomagnesemia primary	Associate	34321601
Inflammation	Associate	24962583, 29476661, 32253986, 34321601
Inflammatory Bowel Diseases	Associate	32651235
Insulin Resistance	Associate	23404842
Keratoconus	Associate	39300613
Microphthalmos	Associate	32052405
Muscular Atrophy	Associate	23404842
Nanophthalmos 1	Associate	32052405, 33004036, 33203948
Obesity	Inhibit	23404842
Obesity	Associate	28598979
Pancreatic Neoplasms	Associate	32997974, 35659199
Scimitar Syndrome	Associate	29446546
Smoke Inhalation Injury	Associate	29258461
Stroke	Associate	36193932
Stroke	Inhibit	36193932
Urogenital Abnormalities	Associate	29446546, 30532227, 37584388

MYRF (myelin regulatory factor)