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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	29081
Gene name	Methyltransferase 5, N6-adenosine
Gene symbol	METTL5
Synonyms (NCBI Gene)	HSPC133MRT72
Chromosome	2
Chromosome location	2q31.1

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1573972562	CT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	31328227, 32296183, 34948388, 35033535
GO:0005634	Component	Nucleus	IDA	31564433
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IDA	33428944
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0008988	Function	RRNA (adenine-N6-)-methyltransferase activity	IBA
GO:0008988	Function	RRNA (adenine-N6-)-methyltransferase activity	IDA	31328227, 32217665, 33357433, 33428944, 35033535
GO:0008988	Function	RRNA (adenine-N6-)-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031167	Process	RRNA methylation	IBA
GO:0031167	Process	RRNA methylation	IDA	31328227, 32217665, 33357433, 35033535
GO:0031167	Process	RRNA methylation	IEA
GO:0032259	Process	Methylation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045727	Process	Positive regulation of translation	IMP	33357433
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0098793	Component	Presynapse	IDA	31564433
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IDA	31564433
GO:0098794	Component	Postsynapse	IEA
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	31328227

MIM	HGNC	e!Ensembl
618628	25006	ENSG00000138382

Q9NRN9

Protein name

rRNA N(6)-adenosine-methyltransferase METTL5 (EC 2.1.1.-) (Methyltransferase-like protein 5)

Protein function

Catalytic subunit of a heterodimer with TRMT112, which specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227, PubMed:32217665, PubMed:33357433, PubMed:33428944, PubMed:35033535). N6-methylation of aden

PDB

6H2U , 6H2V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05175	MTS	35 → 177	Methyltransferase small domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed from very early development (8 post-conceptual weeks) and expression persists through adulthood in multiple substructures of the brain, including the cerebellar cortex, hippocampus, and striatum. {ECO:0000269|PubMed:31564433}

Sequence

MKKVRLKELESRLQQVDGFEKPKLLLEQYPTRPHIAACMLYTIHNTYDDIENKVVADLGC
GCGVLSIGTAMLGAGLCVGFDIDEDALEIFNRNAEEFELTNIDMVQCDVCLLSNRMSKSF
DTVIMNPPFGTKNNKGTDMAFLKTALEMARTAVYSLHKSSTREHVQKKAAEWKIKIDIIA
ELRYDLPASYKFHKKKSVDIEVDLIRFSF

Sequence length

209

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, autosomal recessive 72	Pathogenic; Likely pathogenic	rs1400976065, rs2528783505, rs2528786778, rs2528784290, rs1573965358, rs1573972562, rs1467526653	RCV002250113 RCV002471330 RCV003988768 RCV003990467 RCV000856617 RCV000856616 RCV001174657 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs1573965358, rs1573972562	RCV000850069 RCV000850091	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

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.
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METTL5-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	37400463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37400463	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37194014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35166644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	31564433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37061119	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36305450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31564433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31564433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31564433, 36305450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31564433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	31564433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31564433, 36305450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37217897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34802443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

METTL5 (methyltransferase 5, N6-adenosine)