MYRFL

Summary

MYRFL (myelin regulatory factor like, HGNC:26316) is a protein-coding gene on chromosome 12q15, encoding Myelin regulatory factor-like protein (Q96LU7).

Predicted to enable DNA-binding transcription factor activity and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of DNA-templated transcription and protein autoprocessing. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum membrane and nucleus.

Source: NCBI Gene 196446 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_182530

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26316
Approved symbol	MYRFL
Name	myelin regulatory factor like
Location	12q15
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25056, bcm1377
Ensembl gene	ENSG00000166268
Ensembl biotype	protein_coding
Entrez	196446

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000299350, ENST00000535034, ENST00000547771, ENST00000552032

RefSeq mRNA: 1 — MANE Select: NM_182530 NM_182530

CCDS: CCDS76577

Canonical transcript exons

ENST00000552032 — 25 exons

Exon	Start	End
ENSE00001101591	69936283	69936335
ENSE00001101597	69936453	69936632
ENSE00001101601	69952113	69952175
ENSE00001101605	69936113	69936187
ENSE00001101613	69955363	69955437
ENSE00001101617	69952799	69952886
ENSE00002268128	69932513	69932598
ENSE00002353954	69958445	69959097
ENSE00003557370	69957822	69957942
ENSE00003692055	69958249	69958323
ENSE00004283055	69880201	69880292
ENSE00004283056	69879195	69879453
ENSE00004283057	69893764	69893840
ENSE00004283058	69910821	69910930
ENSE00004283059	69926571	69926734
ENSE00004283060	69903644	69903844
ENSE00004283061	69897156	69897246
ENSE00004283062	69890971	69891166
ENSE00004283063	69909969	69910077
ENSE00004283064	69855280	69855370
ENSE00004283065	69825227	69825563
ENSE00004283066	69895371	69895481
ENSE00004283067	69886820	69886970
ENSE00004283068	69879028	69879095
ENSE00004283069	69927685	69927748

Expression profiles

Bgee: expression breadth ubiquitous, 148 present calls, max score 89.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4269 / max 108.5483, expressed in 92 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126757	0.3295	90
126752	0.0669	7
126753	0.0262	5
126754	0.0042	3

Top tissues by expression

231 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.91	gold quality
jejunal mucosa	UBERON:0000399	89.72	gold quality
duodenum	UBERON:0002114	88.47	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.24	gold quality
small intestine	UBERON:0002108	78.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.90	gold quality
jejunum	UBERON:0002115	77.05	gold quality
buccal mucosa cell	CL:0002336	76.52	silver quality
sperm	CL:0000019	76.17	gold quality
popliteal artery	UBERON:0002250	73.33	gold quality
tibial artery	UBERON:0007610	73.29	gold quality
right coronary artery	UBERON:0001625	69.92	gold quality
left coronary artery	UBERON:0001626	69.76	gold quality
gingival epithelium	UBERON:0001949	69.15	gold quality
coronary artery	UBERON:0001621	69.12	gold quality
metanephros cortex	UBERON:0010533	67.80	gold quality
aorta	UBERON:0000947	67.17	gold quality
cortex of kidney	UBERON:0001225	65.47	gold quality
superficial temporal artery	UBERON:0001614	65.06	gold quality
lower lobe of lung	UBERON:0008949	64.90	silver quality
metanephros	UBERON:0000081	63.42	gold quality
adult mammalian kidney	UBERON:0000082	62.64	gold quality
cerebellar hemisphere	UBERON:0002245	61.52	gold quality
cerebellar vermis	UBERON:0004720	61.44	gold quality
cerebellar cortex	UBERON:0002129	61.40	gold quality
gingiva	UBERON:0001828	61.37	gold quality
pons	UBERON:0000988	61.36	gold quality
skin of leg	UBERON:0001511	61.16	gold quality
islet of Langerhans	UBERON:0000006	60.77	gold quality
cerebellum	UBERON:0002037	60.51	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting MYRFL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-496	98.66	69.80	931
HSA-MIR-4703-5P	98.53	70.13	1645
HSA-MIR-3942-5P	98.52	69.51	1517
HSA-MIR-4684-3P	98.24	69.91	1075
HSA-MIR-6072	98.00	66.47	804

Literature-anchored findings (GeneRIF, showing 1)

• By characterization of the exact DNA-binding requirements of Myrf, we furthermore show that cooperative activation is a consequence of joint binding of Sox10 and Myrf to the same regulatory regions. (PMID:31828317)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	myrfl	ENSDARG00000101645
mus_musculus	Myrfl	ENSMUSG00000034057
rattus_norvegicus	Myrfl	ENSRNOG00000021833
drosophila_melanogaster	CG3328	FBGN0034985
caenorhabditis_elegans		WBGENE00004134
caenorhabditis_elegans		WBGENE00008999

Paralogs (1): MYRF (ENSG00000124920)

Protein

Protein identifiers

Myelin regulatory factor-like protein — Q96LU7 (reviewed: Q96LU7)

All UniProt accessions (4): A0A075B6E6, Q96LU7, F5GYH9, F8VVR8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the MRF family.

RefSeq proteins (1): NP_872336* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008967	p53-like_TF_DNA-bd_sf	Homologous_superfamily
IPR024061	NDT80_DNA-bd_dom	Domain
IPR025719	MYRF_C2	Domain
IPR026932	MYRF_ICA	Domain
IPR030392	S74_ICA	Domain
IPR037141	NDT80_DNA-bd_dom_sf	Homologous_superfamily
IPR051577	MRF-like	Family

Pfam: PF05224, PF13884, PF13887, PF13888

UniProt features (11 total): sequence variant 3, region of interest 2, chain 1, transmembrane region 1, domain 1, DNA-binding region 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LU7-F1	68.13	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 49 (showing top): PEREZ_TP63_TARGETS, CEBPB_01, GOBP_PROTEIN_MATURATION, RYTTCCTG_ETS2_B, GOBP_PROTEIN_AUTOPROCESSING, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOBP_PROTEOLYSIS, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, chr12q15, GOBP_PROTEIN_PROCESSING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, E2F2_TARGET_GENES, ZNF22_TARGET_GENES, MIR520D_5P

GO Biological Process (3): protein autoprocessing (GO:0016540), positive regulation of DNA-templated transcription (GO:0045893), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677)

GO Cellular Component (3): nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
regulation of DNA-templated transcription	2
protein processing	1
positive regulation of RNA biosynthetic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
DNA binding	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYRFL	DNMBP	Q6XZF7	411
MYRFL	AKR1E2	Q96JD6	390
MYRFL	CNOT2	Q9NZN8	389
MYRFL	HACL2	A1L0T0	379
MYRFL	PTH2	Q96A98	370
MYRFL	ERMN	Q8TAM6	345
MYRFL	PLP1	P04400	340
MYRFL	ASB1	Q9Y576	330
MYRFL	PKD1L3	Q7Z443	322
MYRFL	RFFL	Q8WZ73	301
MYRFL	MEAK7	Q6P9B6	301
MYRFL	RNF169	Q8NCN4	298
MYRFL	SPO11	Q9Y5K1	298
MYRFL	CRYL1	Q9Y2S2	297
MYRFL	ZNF836	Q6ZNA1	289

IntAct

2 interactions, top by confidence:

A	B	Type	Score
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A8M2B818, A0A8M9PFP2, A1XQX3, A1XQY0, A1XQY3, B0S5G3, D0PRN4, F1N4M2, L7VG99, O35158, O35464, O61307, Q01083, Q14DG7, Q24322, Q3KN41, Q3UHK6, Q3UN70, Q568T5, Q58EG3, Q5R7F5, Q62765, Q62889, Q66IV1, Q76KF0, Q7T2X6, Q8BMA3, Q8N2Q7, Q8NFY4, Q8VDA1, Q90Z04, Q91713, Q96LU7, Q9DER5, Q9ER65, Q9H2E6, Q9H4D0, Q9HDB5, Q9NT68, Q9NZ94

Diamond homologs: D9PTN5, F1N4M2, G5EFI7, Q1ZXA9, Q3UN70, Q3UR85, Q54B29, Q54PT9, Q66IV1, Q96LU7, Q9Y2G1, B0FIH7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3734 predictions. Top by Δscore:

Variant	Effect	Δscore
12:69880293:G:GG	donor_gain	1.0000
12:69889301:G:GT	donor_gain	1.0000
12:69890966:CATA:C	acceptor_loss	1.0000
12:69890967:ATAG:A	acceptor_loss	1.0000
12:69890968:T:G	acceptor_gain	1.0000
12:69890969:A:AG	acceptor_gain	1.0000
12:69890969:AGACC:A	acceptor_loss	1.0000
12:69890970:G:GA	acceptor_gain	1.0000
12:69890970:GA:G	acceptor_gain	1.0000
12:69890970:GAC:G	acceptor_gain	1.0000
12:69890970:GACC:G	acceptor_gain	1.0000
12:69890970:GACCT:G	acceptor_gain	1.0000
12:69891090:G:GT	donor_gain	1.0000
12:69891090:G:T	donor_gain	1.0000
12:69891167:G:GC	donor_loss	1.0000
12:69891168:T:A	donor_loss	1.0000
12:69893759:T:G	acceptor_gain	1.0000
12:69893759:TACA:T	acceptor_loss	1.0000
12:69893760:ACAGG:A	acceptor_loss	1.0000
12:69893762:A:T	acceptor_loss	1.0000
12:69893763:G:A	acceptor_loss	1.0000
12:69893810:A:G	donor_gain	1.0000
12:69893836:GTTAA:G	donor_gain	1.0000
12:69893837:T:G	donor_gain	1.0000
12:69893837:T:TG	donor_gain	1.0000
12:69893837:TTAAG:T	donor_loss	1.0000
12:69893838:TAA:T	donor_gain	1.0000
12:69893838:TAAGT:T	donor_loss	1.0000
12:69893839:AAGTA:A	donor_loss	1.0000
12:69893840:AGTA:A	donor_loss	1.0000

AlphaMissense

6043 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:69903829:G:C	K456N	0.999
12:69903829:G:T	K456N	0.999
12:69895446:T:A	N352K	0.998
12:69895446:T:G	N352K	0.998
12:69895452:A:C	R354S	0.998
12:69895452:A:T	R354S	0.998
12:69926611:T:C	L548P	0.998
12:69895424:T:C	F345S	0.997
12:69895451:G:C	R354T	0.997
12:69897245:G:T	R394M	0.997
12:69897246:G:C	R394S	0.997
12:69897246:G:T	R394S	0.997
12:69958310:G:C	R878P	0.997
12:69891003:A:T	K247I	0.996
12:69891055:T:A	N264K	0.996
12:69891055:T:G	N264K	0.996
12:69895423:T:C	F345L	0.996
12:69895425:C:A	F345L	0.996
12:69895425:C:G	F345L	0.996
12:69895479:G:C	Q363H	0.996
12:69895479:G:T	Q363H	0.996
12:69897160:T:C	F366L	0.996
12:69897162:C:A	F366L	0.996
12:69897162:C:G	F366L	0.996
12:69897245:G:C	R394T	0.996
12:69903662:T:C	F401L	0.996
12:69903664:T:A	F401L	0.996
12:69903664:T:G	F401L	0.996
12:69910830:C:A	A501D	0.996
12:69886912:T:A	W217R	0.995

dbSNP variants (sampled 300 via entrez): RS1000106434 (12:69945677 T>C), RS1000125489 (12:69854151 T>C), RS1000130571 (12:69955654 T>C), RS1000178131 (12:69905218 A>G), RS1000185599 (12:69915452 A>G), RS1000196434 (12:69886440 C>G), RS1000197009 (12:69915178 C>A), RS1000224728 (12:69871684 T>C), RS1000291203 (12:69886660 G>A), RS1000309632 (12:69852355 A>G), RS1000317138 (12:69840238 C>G), RS1000329727 (12:69892922 G>A), RS1000361432 (12:69857622 T>C), RS1000371870 (12:69834426 T>C), RS1000423978 (12:69852771 T>A,C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000253_21	Attention deficit hyperactivity disorder and conduct disorder	7.000000e-06
GCST007239_19	Ovarian cancer	1.000000e-07
GCST008150_6	Triglyceride levels	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
tebuconazole	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Decitabine	affects expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Cisplatin	affects expression	1
Endosulfan	decreases expression	1
Formaldehyde	increases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Methapyrilene	decreases methylation	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.