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	23040
Gene name	Myelin transcription factor 1 like
Gene symbol	MYT1L
Synonyms (NCBI Gene)	MRD39NZF1ZC2H2C2ZC2HC4BmyT1-L
Chromosome	2
Chromosome location	2p25.3
Summary	This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs869320675	C>T	Pathogenic	Splice donor variant
rs869320676	A>C	Pathogenic	Coding sequence variant, stop gained
rs878853045	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs886041655	C>A	Pathogenic	Stop gained, coding sequence variant
rs886041858	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041944	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057519560	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793449	GC>A	Pathogenic	Coding sequence variant, frameshift variant
rs1064793635	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794713	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1253072668	CAGCGCGTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1275489527	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553295440	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553297209	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553308328	C>T	Likely-pathogenic	Intron variant
rs1553324416	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553324762	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553395132	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1558371790	G>A	Pathogenic	Coding sequence variant, missense variant
rs1558414255	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1558710588	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1573483715	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1573501865	C>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017380	hsa-miR-335-5p	Microarray	18185580
MIRT029154	hsa-miR-26b-5p	Microarray	19088304
MIRT721408	hsa-miR-501-5p	HITS-CLIP	19536157
MIRT721407	hsa-miR-6792-5p	HITS-CLIP	19536157
MIRT721406	hsa-miR-4503	HITS-CLIP	19536157
MIRT721405	hsa-miR-7856-5p	HITS-CLIP	19536157
MIRT721408	hsa-miR-501-5p	HITS-CLIP	19536157
MIRT721407	hsa-miR-6792-5p	HITS-CLIP	19536157
MIRT721406	hsa-miR-4503	HITS-CLIP	19536157
MIRT721405	hsa-miR-7856-5p	HITS-CLIP	19536157
MIRT1170694	hsa-miR-106a	CLIP-seq
MIRT1170695	hsa-miR-106b	CLIP-seq
MIRT1170696	hsa-miR-1299	CLIP-seq
MIRT1170697	hsa-miR-17	CLIP-seq
MIRT1170698	hsa-miR-204	CLIP-seq
MIRT1170699	hsa-miR-20a	CLIP-seq
MIRT1170700	hsa-miR-20b	CLIP-seq
MIRT1170701	hsa-miR-211	CLIP-seq
MIRT1170702	hsa-miR-302a	CLIP-seq
MIRT1170703	hsa-miR-302b	CLIP-seq
MIRT1170704	hsa-miR-302c	CLIP-seq
MIRT1170705	hsa-miR-302d	CLIP-seq
MIRT1170706	hsa-miR-302e	CLIP-seq
MIRT1170707	hsa-miR-3120-3p	CLIP-seq
MIRT1170708	hsa-miR-3121-5p	CLIP-seq
MIRT1170709	hsa-miR-3143	CLIP-seq
MIRT1170710	hsa-miR-3151	CLIP-seq
MIRT1170711	hsa-miR-3202	CLIP-seq
MIRT1170712	hsa-miR-338-3p	CLIP-seq
MIRT1170713	hsa-miR-3613-3p	CLIP-seq
MIRT1170714	hsa-miR-3646	CLIP-seq
MIRT1170715	hsa-miR-372	CLIP-seq
MIRT1170716	hsa-miR-373	CLIP-seq
MIRT1170717	hsa-miR-4265	CLIP-seq
MIRT1170718	hsa-miR-4282	CLIP-seq
MIRT1170719	hsa-miR-4287	CLIP-seq
MIRT1170720	hsa-miR-4289	CLIP-seq
MIRT1170721	hsa-miR-4296	CLIP-seq
MIRT1170722	hsa-miR-4322	CLIP-seq
MIRT1170723	hsa-miR-4447	CLIP-seq
MIRT1170724	hsa-miR-4469	CLIP-seq
MIRT1170725	hsa-miR-4472	CLIP-seq
MIRT1170726	hsa-miR-4474-5p	CLIP-seq
MIRT1170727	hsa-miR-450b-5p	CLIP-seq
MIRT1170728	hsa-miR-4517	CLIP-seq
MIRT1170729	hsa-miR-4530	CLIP-seq
MIRT1170730	hsa-miR-4533	CLIP-seq
MIRT1170731	hsa-miR-4685-3p	CLIP-seq
MIRT1170732	hsa-miR-4762-5p	CLIP-seq
MIRT1170733	hsa-miR-491-5p	CLIP-seq
MIRT1170734	hsa-miR-512-3p	CLIP-seq
MIRT1170735	hsa-miR-519d	CLIP-seq
MIRT1170736	hsa-miR-520a-3p	CLIP-seq
MIRT1170737	hsa-miR-520b	CLIP-seq
MIRT1170738	hsa-miR-520c-3p	CLIP-seq
MIRT1170739	hsa-miR-520d-3p	CLIP-seq
MIRT1170740	hsa-miR-520e	CLIP-seq
MIRT1170741	hsa-miR-548p	CLIP-seq
MIRT1170742	hsa-miR-548t	CLIP-seq
MIRT1170743	hsa-miR-875-3p	CLIP-seq
MIRT1170744	hsa-miR-891b	CLIP-seq
MIRT1170745	hsa-miR-93	CLIP-seq
MIRT2049193	hsa-miR-142-5p	CLIP-seq
MIRT2049194	hsa-miR-4694-3p	CLIP-seq
MIRT2049195	hsa-miR-4708-5p	CLIP-seq
MIRT2049196	hsa-miR-522	CLIP-seq
MIRT2278287	hsa-miR-1252	CLIP-seq
MIRT2278288	hsa-miR-3140-3p	CLIP-seq
MIRT1170711	hsa-miR-3202	CLIP-seq
MIRT2278289	hsa-miR-3617	CLIP-seq
MIRT2278290	hsa-miR-3924	CLIP-seq
MIRT1170730	hsa-miR-4533	CLIP-seq
MIRT2049194	hsa-miR-4694-3p	CLIP-seq
MIRT2049195	hsa-miR-4708-5p	CLIP-seq
MIRT2278291	hsa-miR-4802-3p	CLIP-seq
MIRT2049196	hsa-miR-522	CLIP-seq
MIRT2278292	hsa-miR-587	CLIP-seq
MIRT2278293	hsa-miR-641	CLIP-seq
MIRT2391302	hsa-miR-600	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005694	Component	Chromosome	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0044323	Function	Retinoic acid-responsive element binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048663	Process	Neuron fate commitment	ISS
GO:0048665	Process	Neuron fate specification	IEA
GO:0048665	Process	Neuron fate specification	ISS
GO:0048666	Process	Neuron development	IEA
GO:0048666	Process	Neuron development	ISS
GO:0050897	Function	Cobalt ion binding	IEA
GO:0140487	Function	Metal ion sequestering activity	IEA

MIM	HGNC	e!Ensembl
613084	7623	ENSG00000186487

Q9UL68

Protein name

Myelin transcription factor 1-like protein (MyT1-L) (MyT1L)

Protein function

Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, media

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01530	zf-C2HC	30 → 58	Zinc finger, C2HC type	Family
PF01530	zf-C2HC	505 → 532	Zinc finger, C2HC type	Family
PF01530	zf-C2HC	549 → 577	Zinc finger, C2HC type	Family
PF08474	MYT1	621 → 872	Myelin transcription factor 1	Family
PF01530	zf-C2HC	904 → 932	Zinc finger, C2HC type	Family
PF01530	zf-C2HC	953 → 981	Zinc finger, C2HC type	Family
PF01530	zf-C2HC	1006 → 1034	Zinc finger, C2HC type	Family

Sequence

MEVDTEEKRHRTRSKGVRVPVEPAIQELFSCPTPGCDGSGHVSGKYARHRSVYGCPLAKK
RKTQDKQPQEPAPKRKPFAVKADSSSVDECDDSDGTEDMDEKEEDEGEEYSEDNDEPGDE
DEEDEEGDREEEEEIEEEDEDDDEDGEDVEDEEEEEEEEEEEEEEEENEDHQMNCHNTRI
MQDTEKDDNNNDEYDNYDELVAKSLLNLGKIAEDAAYRARTESEMNSNTSNSLEDDSDKN
ENLGRKSELSLDLDSDVVRETVDSLKLLAQGHGVVLSENMNDRNYADSMSQQDSRNMNYV
MLGKPMNNGLMEKMVEESDEEVCLSSLECLRNQCFDLARKLSETNPQERNPQQNMNIRQH
VRPEEDFPGRTPDRNYSDMLNLMRLEEQLSPRSRVFASCAKEDGCHERDDDTTSVNSDRS
EEVFDMTKGNLTLLEKAIALETERAKAMREKMAMEAGRRDNMRSYEDQSPRQLPGEDRKP
KSSDSHVKKPYYGKDPSRTEKKESKCPTPGCDGTGHVTGLYPHHRSLSGCPHKDRVPPEI
LAMHESVLKCPTPGCTGRGHVNSNRNSHRSLSGCPIAAAEKLAKAQEKHQSCDVSKSSQA
SDRVLRPMCFVKQLEIPQYGYRNNVPTTTPRSNLAKELEKYSKTSFEYNSYDNHTYGKRA
IAPKVQTRDISPKGYDDAKRYCKDPSPSSSSTSSYAPSSSSNLSCGGGSSASSTCSKSSF
DYTHDMEAAHMAATAILNLSTRCREMPQNLSTKPQDLCATRNPDMEVDENGTLDLSMNKQ
RPRDSCCPILTPLEPMSPQQQAVMNNRCFQLGEGDCWDLPVDYTKMKPRRIDEDESKDIT
PEDLDPFQEALEERRYPGEVTIPSPKPKYPQCKESKKDLITLSGCPLADKSIRSMLATSS
QELKCPTPGCDGSGHITGNYASHRSLSGCPRAKKSGIRIAQSKEDKEDQEPIRCPVPGCD
GQGHITGKYASHRSASGCPLAAKRQKDGYLNGSQFSWKSVKTEGMSCPTPGCDGSGHVSG
SFLTHRSLSGCPRATSAMKKAKLSGEQMLTIKQRASNGIENDEEIKQLDEEIKELNESNS
QMEADMIKLRTQITTMESNLKTIEEENKVIEQQNESLLHELANLSQSLIHSLANIQLPHM
DPINEQNFDAYVTTLTEMYTNQDRYQSPENKALLENIKQAVRGIQV

Sequence length

1186

Interactions

View interactions

172

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs878853045, rs1253072668, rs1558371790, rs2048197122, rs2048544264, rs2052975031, rs2052976421, rs2052981382	RCV001257695 RCV001257694 RCV001255346 RCV001257692 RCV001257696 RCV001257693 RCV001257763 RCV001257762
Intellectual disability, autosomal dominant 39	Pathogenic; Likely pathogenic	rs2149016192, rs2148852029, rs2149110899, rs753426087, rs2149071963, rs528530098, rs2550898220, rs2550897780, rs2550356884, rs2550870899, rs2550701604, rs869320675, rs869320676, rs878853045, rs2550684752 View all (27 more)	RCV002291300 RCV001809065 RCV002074462 RCV002249108 RCV002267689 RCV002274462 RCV002280024 RCV002291192 RCV002465001 RCV002465461 RCV002466908 RCV000190461 RCV000190462 RCV000754090 RCV003127384 RCV003226891 RCV002264926 RCV005410895 RCV003314212 RCV003314393 RCV003320011 RCV003333556 RCV003405109 RCV003883383 RCV004595355 RCV000416999 RCV000578253 RCV000723275 RCV000754091 RCV000754625 RCV004796308 RCV000825012 RCV000986586 RCV001249659 RCV001249647 RCV001252575 RCV001253116 RCV001254937 RCV001312229 RCV001264753 RCV004570662 RCV004799581
MYT1L-related disorder	Pathogenic	rs2551024138	RCV003976728
Neurodevelopmental abnormality	Pathogenic	rs2048967703	RCV001264697
Neurodevelopmental delay	Likely pathogenic	rs2148393387, rs2148530498	RCV002274396 RCV002274397
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2149016192, rs745333246	RCV001374947 RCV001374922
See cases	Pathogenic	rs1275489527	RCV005901870

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Likely benign	rs2550917519, rs777366463	RCV003127382 RCV003127383
Early onset severe obesity	Conflicting classifications of pathogenicity	rs201761335	RCV006440484
Syndromic intellectual disability	not provided	rs1264319963	RCV002265539
Thymoma	Benign	rs2241685	RCV005917292
Uterine carcinosarcoma	Likely benign; Benign	rs192624064, rs2241685	RCV005916021 RCV005917291
Uveal melanoma	Benign	rs2241685	RCV005917290

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute cholinergic dysautonomia	Associate	29453933
Alzheimer Disease	Associate	38554950
Aphasia	Associate	24129437
Asthma	Associate	35606283
Autism Spectrum Disorder	Associate	27824329, 35741772, 38136944
Autistic Disorder	Associate	22157634, 27824329, 34748075
Congenital Abnormalities	Associate	34748075
Cystitis Interstitial	Associate	30973927
Death	Associate	24015200
Depressive Disorder	Associate	22157634
Depressive Disorder Major	Associate	21048971, 35468096
Developmental Disabilities	Associate	28470180, 34748075
Epilepsy	Associate	34748075
Feeding and Eating Disorders	Associate	34748075
Fragile X Syndrome	Associate	34946857
Glioblastoma	Associate	31522595, 40362634
Glioma	Associate	34848272
Intellectual Disability	Associate	28470180, 34748075
Language Development Disorders	Associate	34748075
Learning Disabilities	Associate	34748075
Leukoencephalopathies	Associate	23412934
Mental Disorders	Associate	21048971, 24129437, 34748075, 39472790
Multiple Sclerosis	Associate	23412934
Neoplasms	Associate	14997935, 28470180, 32015217
Neoplasms	Inhibit	40362634
Neurodegenerative Diseases	Inhibit	28470180
Obesity	Associate	24129437, 32153512, 34748075
Oligodendroglioma	Associate	14997935
Overweight	Associate	34748075
Pediatric acute onset neuropsychiatric syndrome	Associate	22157634
Schizophrenia	Associate	22157634
Seizures	Associate	34946857
Stomach Neoplasms	Associate	24015200
Technophobia	Associate	33941792

MYT1L (myelin transcription factor 1 like)