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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	124512
Gene name Gene Name - the full gene name approved by the HGNC.	Methyltransferase 23, arginine
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	METTL23
Synonyms (NCBI Gene) Gene synonyms aliases	C17orf95, MRT44
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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 (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	Intellectual disability, autosomal recessive 44, intellectual disability	rs587777644, rs587777645, rs587777646, rs760933323, rs1382444181	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Non-Syndromic Intellectual Disability	autosomal recessive non-syndromic intellectual disability	N/A	N/A	GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)