Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613084 7623 ENSG00000186487
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PEDLDPFQEALEERRYPGEVTIPSPKPKYPQC
KESKKDLITLSGCPLADKSIRSMLATSS
QELKCPTPGCDGSGHITGNYASHRSLSGCPRAKKSGIRIAQSKEDKEDQEPIRCPVPGCD
GQGHITGKYASHRSASGCPLA
AKRQKDGYLNGSQFSWKSVKTEGMSCPTPGCDGSGHVSG
SFLTHRSLSGCPRA
TSAMKKAKLSGEQMLTIKQRASNGIENDEEIKQLDEEIKELNESNS
QMEADMIKLRTQITTMESNLKTIEEENKVIEQQNESLLHELANLSQSLIHSLANIQLPHM
DPINEQNFDAYVTTLTEMYTNQDRYQSPENKALLENIKQAVRGIQV
Sequence length 1186
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic; Pathogenic rs878853045, rs1253072668, rs1558371790, rs2048197122, rs2048544264, rs2052975031, rs2052976421, rs2052981382 RCV001257695
RCV001257694
RCV001255346
RCV001257692
RCV001257696
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (37 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYT1L-related disorder Pathogenic rs2551024138 RCV003976728
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality Pathogenic rs2048967703 RCV001264697
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Oligodendroglioma Oligodendroglioma BEFREE 14997935
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 38554950 Associate
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 24129437 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 35606283 Associate
★☆☆☆☆
Found in Text Mining only
ATRIAL SEPTAL DEFECT 1 Atrial Septal Defect GENOMICS_ENGLAND_DG 25294932
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect GENOMICS_ENGLAND_DG 25294932
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 27824329, 35741772, 38136944 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder GENOMICS_ENGLAND_DG 25294932
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 22157634
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 22157634, 27824329, 34748075 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations