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	124512
Gene name	Methyltransferase 23, arginine
Gene symbol	METTL23
Synonyms (NCBI Gene)	C17orf95MRT44
Chromosome	17
Chromosome location	17q25.1
Summary	The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autos

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777644	CACT>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs587777645	AGATA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587777646	C>T	Pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant, non coding transcript variant
rs760933323	TT>-	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant, non coding transcript variant
rs1057521913	G>C	Likely-pathogenic	3 prime UTR variant, coding sequence variant, splice donor variant, missense variant
rs1382444181	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant
rs1462161137	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048607	hsa-miR-99a-5p	CLASH	23622248
MIRT039287	hsa-miR-671-5p	CLASH	23622248
MIRT1144524	hsa-miR-331-5p	CLIP-seq
MIRT1144525	hsa-miR-4678	CLIP-seq
MIRT1144526	hsa-miR-4773	CLIP-seq
MIRT1144527	hsa-miR-595	CLIP-seq
MIRT2270775	hsa-miR-3913-3p	CLIP-seq
MIRT2270776	hsa-miR-4775	CLIP-seq
MIRT2270777	hsa-miR-489	CLIP-seq
MIRT2270778	hsa-miR-590-3p	CLIP-seq
MIRT1144527	hsa-miR-595	CLIP-seq
MIRT1144524	hsa-miR-331-5p	CLIP-seq
MIRT1144525	hsa-miR-4678	CLIP-seq
MIRT1144526	hsa-miR-4773	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001939	Component	Female pronucleus	IEA
GO:0001939	Component	Female pronucleus	ISS
GO:0001940	Component	Male pronucleus	IEA
GO:0001940	Component	Male pronucleus	ISS
GO:0005515	Function	Protein binding	IPI	23349634
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24501276
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23349634, 24501276
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031072	Function	Heat shock protein binding	IPI	23349634
GO:0032259	Process	Methylation	IEA
GO:0032991	Component	Protein-containing complex	IDA	23349634
GO:0032991	Component	Protein-containing complex	IEA
GO:0035242	Function	Protein-arginine omega-N asymmetric methyltransferase activity	IEA
GO:0035642	Function	Histone H3R17 methyltransferase activity	IBA
GO:0035642	Function	Histone H3R17 methyltransferase activity	IEA
GO:0035642	Function	Histone H3R17 methyltransferase activity	ISS
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IEA
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	ISS
GO:0044727	Process	Epigenetic programing of male pronucleus	IEA
GO:0044727	Process	Epigenetic programing of male pronucleus	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	24501276
GO:0050890	Process	Cognition	IMP	24501276
GO:0140297	Function	DNA-binding transcription factor binding	IPI	24501276

MIM	HGNC	e!Ensembl
615262	26988	ENSG00000181038

Q86XA0

Protein name

Histone-arginine methyltransferase METTL23 (EC 2.1.1.319) (Methyltransferase-like protein 23)

Protein function

Histone methyltransferase that dimethylates histone H3 at 'Arg-17', forming asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling (By similarity). Maternal factor involved in epigenetic chromatin rep

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10294	Methyltransf_16	1 → 141	Lysine methyltransferase	Family

Sequence

MYVWPCAVVLAQYLWFHRRSLPGKAILEIGAGVSLPGILAAKCGAEVILSDSSELPHCLE
VCRQSCQMNNLPHLQVVGLTWGHISWDLLALPPQDIILASDVFFEPEDFEDILATIYFLM
HKNPKVQLWSTYQVRSADWSLEALLYKWDMKCVHIPLESFDADKEDIAESTLPGRHTVEM
LVISFAKDSL

Sequence length

190

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs587777644, rs767883844	RCV004798784 RCV004798946
Intellectual disability, autosomal recessive 44	Likely pathogenic; Pathogenic	rs2143866789, rs587777644, rs587777645, rs587777646, rs1278342620, rs2509733625, rs2509730596, rs2509729261, rs760933323, rs1382444181, rs746453662	RCV001782436 RCV000133532 RCV000133533 RCV000133534 RCV002471732 RCV002471837 RCV003333945 RCV003883303 RCV005252912 RCV001251447 RCV001375998

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
METTL23-related disorder	Likely benign; Benign	rs200067763, rs114299201	RCV003984511 RCV003912597

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Intellectual Disability	Associate	24626631, 32878022
Low Tension Glaucoma	Associate	36317630
Mental Retardation Autosomal Recessive 1	Associate	24501276
Multiple Pterygium Syndrome Autosomal Dominant	Associate	36317630

METTL23 (methyltransferase 23, arginine)