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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	196541
Gene name	Methyltransferase 21C, AARS1 lysine
Gene symbol	METTL21C
Synonyms (NCBI Gene)	C13orf39
Chromosome	13
Chromosome location	13q33.1

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments
MIRT1144415	hsa-miR-3611	CLIP-seq
MIRT1144416	hsa-miR-3910	CLIP-seq
MIRT1144417	hsa-miR-488	CLIP-seq
MIRT1144418	hsa-miR-548an	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	23349634
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	32611769
GO:0005737	Component	Cytoplasm	IEA
GO:0006479	Process	Protein methylation	IDA	22948820
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008276	Function	Protein methyltransferase activity	IBA
GO:0008628	Process	Hormone-mediated apoptotic signaling pathway	IEA
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	22948820, 32611769
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018022	Process	Peptidyl-lysine methylation	IDA	32611769
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:0071549	Process	Cellular response to dexamethasone stimulus	IEA

MIM	HGNC	e!Ensembl
615259	33717	ENSG00000139780

Q5VZV1

Protein name

Protein-lysine methyltransferase METTL21C (EC 2.1.1.-) (Methyltransferase-like protein 21C)

Protein function

Protein-lysine N-methyltransferase using S-adenosyl-L-methionine as methyl donor (PubMed:22948820, PubMed:32611769). Mono-di and trimethylates 'Lys-943' of AARS1 (PubMed:32611769).

PDB

4MTL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10294	Methyltransf_16	73 → 240	Lysine methyltransferase	Family

Sequence

MDVCLSSAQQPGRRGEGLSSPGGWLEAEKKGAPQKDSTGGVLEESNKIEPSLHSLQKFVP
TDYASYTQEHYRFAGKEIVIQESIESYGAVVWPGAMALCQYLEEHAEELNFQDAKILEIG
AGPGLVSIVASILGAQVTATDLPDVLGNLQYNLLKNTLQCTAHLPEVKELVWGEDLDKNF
PKSAFYYDYVLASDVVYHHYFLDKLLTTMVYLSQPGTVLLWANKFRFSTDYEFLDKFKQV
FDTTLLAEYPESSVKLFKGILKWD

Sequence length

264

Interactions

View interactions

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	27404287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27404287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	34775353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27628047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24677265, 27628047		★★★★★ ★☆☆☆☆ Found in Text Mining only

METTL21C (methyltransferase 21C, AARS1 lysine)