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 autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, No... See more...

Aliases for METTL23 Gene

Aliases for METTL23 Gene

  • Methyltransferase Like 23 2 3 5
  • Methyltransferase-Like Protein 23 3 4
  • C17orf95 3 4
  • Chromosome 17 Open Reading Frame 95 2
  • Spike Binding Protein 1 3
  • EC 2.1.1.- 4
  • LOC124512 2
  • METTL23 5
  • MRT44 3

External Ids for METTL23 Gene

Previous HGNC Symbols for METTL23 Gene

  • C17orf95

Previous GeneCards Identifiers for METTL23 Gene

  • GC17P074723

Summaries for METTL23 Gene

Entrez Gene Summary for METTL23 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 autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for METTL23 Gene

METTL23 (Methyltransferase Like 23) is a Protein Coding gene. Diseases associated with METTL23 include Mental Retardation, Autosomal Recessive 44 and Autosomal Recessive Non-Syndromic Intellectual Disability. Gene Ontology (GO) annotations related to this gene include methyltransferase activity. An important paralog of this gene is VCPKMT.

UniProtKB/Swiss-Prot Summary for METTL23 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for METTL23 Gene

Genomics for METTL23 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for METTL23 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around METTL23 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for METTL23

Genomic Locations for METTL23 Gene

Latest Assembly
chr17:76,726,041-76,733,936
(GRCh38/hg38)
Size:
7,896 bases
Orientation:
Plus strand

Previous Assembly
chr17:74,722,123-74,729,963
(GRCh37/hg19 by Entrez Gene)
Size:
7,841 bases
Orientation:
Plus strand

chr17:74,722,912-74,730,018
(GRCh37/hg19 by Ensembl)
Size:
7,107 bases
Orientation:
Plus strand

Genomic View for METTL23 Gene

Genes around METTL23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
METTL23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for METTL23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for METTL23 Gene

Proteins for METTL23 Gene

  • Protein details for METTL23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XA0-MET23_HUMAN
    Recommended name:
    Methyltransferase-like protein 23
    Protein Accession:
    Q86XA0
    Secondary Accessions:
    • H9ZYJ0
    • K7EK32

    Protein attributes for METTL23 Gene

    Size:
    190 amino acids
    Molecular mass:
    21469 Da
    Quaternary structure:
    • Interacts with HSPA5, HSP90B1, TUBULIN, UGGT1 and UGGT2.
    SequenceCaution:
    • Sequence=AAH45819.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for METTL23 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for METTL23 Gene

Post-translational modifications for METTL23 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for METTL23 Gene

Domains & Families for METTL23 Gene

Gene Families for METTL23 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for METTL23 Gene

Suggested Antigen Peptide Sequences for METTL23 Gene

GenScript: Design optimal peptide antigens:
  • Methyltransferase-like protein 23 (MET23_HUMAN)
  • C17orf95 protein (Q8N712_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XA0

UniProtKB/Swiss-Prot:

MET23_HUMAN :
  • Belongs to the methyltransferase superfamily. METTL23 family.
Family:
  • Belongs to the methyltransferase superfamily. METTL23 family.
genes like me logo Genes that share domains with METTL23: view

Function for METTL23 Gene

Molecular function for METTL23 Gene

UniProtKB/Swiss-Prot Function:
Probable methyltransferase.

Enzyme Numbers (IUBMB) for METTL23 Gene

Phenotypes From GWAS Catalog for METTL23 Gene

Gene Ontology (GO) - Molecular Function for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23349634
GO:0008134 transcription factor binding IPI 24501276
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0031072 heat shock protein binding IPI 23349634
genes like me logo Genes that share ontologies with METTL23: view

Phenotypes for METTL23 Gene

genes like me logo Genes that share phenotypes with METTL23: view

Human Phenotype Ontology for METTL23 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for METTL23 Gene

miRTarBase miRNAs that target METTL23

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for METTL23

Clone products for research

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for METTL23 Gene

Localization for METTL23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for METTL23 Gene

Cytoplasm. Membrane. Single-pass membrane protein. Note=When overexpressed, detected in cytoplasmic membrane-like structures.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for METTL23 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 24501276
GO:0005737 cytoplasm IBA,IDA 23349634
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032991 protein-containing complex IDA 23349634
genes like me logo Genes that share ontologies with METTL23: view

Pathways & Interactions for METTL23 Gene

PathCards logo

SuperPathways for METTL23 Gene

No Data Available

Gene Ontology (GO) - Biological Process for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IMP 24501276
GO:0050890 cognition IMP 24501276
genes like me logo Genes that share ontologies with METTL23: view

No data available for Pathways by source and SIGNOR curated interactions for METTL23 Gene

Drugs & Compounds for METTL23 Gene

No Compound Related Data Available

Transcripts for METTL23 Gene

mRNA/cDNA for METTL23 Gene

16 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for METTL23

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for METTL23 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ·
SP1: - - - - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - - - - - - - - -
SP9: - -
SP10: - - - - - - - - - -
SP11: - - - -
SP12: - -
SP13:

ExUns: 6f · 6g · 6h
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for METTL23 Gene

GeneLoc Exon Structure for
METTL23

Expression for METTL23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for METTL23 Gene

Protein differential expression in normal tissues from HIPED for METTL23 Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for METTL23 Gene



Protein tissue co-expression partners for METTL23 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for METTL23

SOURCE GeneReport for Unigene cluster for METTL23 Gene:

Hs.74655

Phenotype-based relationships between genes and organs from Gene ORGANizer for METTL23 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with METTL23: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for METTL23 Gene

Orthologs for METTL23 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for METTL23 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia METTL23 30
  • 99.47 (n)
C17ORF95 31
  • 64 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia METTL23 30 31
  • 90.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia METTL23 30 31
  • 89.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mettl23 30 17 31
  • 85.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mettl23 30
  • 85.71 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 61 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
OneToMany
Chicken
(Gallus gallus)
Aves METTL23 30
  • 71.84 (n)
-- 31
  • 58 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mettl23 30
  • 66.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch73-366l1.2 30
  • 63.64 (n)
METTL23 31
  • 52 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG5013 30 31
  • 55.37 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001222 30
  • 51.28 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G63855 30
  • 53.39 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0120300 30
  • 54.03 (n)
Species where no ortholog for METTL23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for METTL23 Gene

ENSEMBL:
Gene Tree for METTL23 (if available)
TreeFam:
Gene Tree for METTL23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for METTL23: view image

Paralogs for METTL23 Gene

Paralogs for METTL23 Gene

(1) SIMAP similar genes for METTL23 Gene using alignment to 10 proteins:

  • MET23_HUMAN
  • K7EJ00_HUMAN
  • K7EK32_HUMAN
  • K7EL83_HUMAN
  • K7EMR3_HUMAN
  • K7ENU9_HUMAN
  • K7EPR8_HUMAN
  • K7EPT5_HUMAN
  • K7ERS2_HUMAN
  • K7ESG7_HUMAN
genes like me logo Genes that share paralogs with METTL23: view

Variants for METTL23 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for METTL23 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
812707 Pathogenic: Mental retardation, autosomal recessive 44 76,733,069(+) T/TG
NM_001080510.5(METTL23):c.178dup (p.Glu60fs)
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
985456 Pathogenic: Inborn genetic diseases 76,733,063(+) ACTGT/A
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR
rs1023390952 Uncertain Significance: Inborn genetic diseases 76,733,606(+) G/T
NM_001206983.2(METTL23):c.493G>T (p.Glu165Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs1057521913 Likely Pathogenic: not provided 76,733,378(+) G/C
NM_001080510.4(METTL23):c.407+1G>C
SPLICE_DONOR
rs114299201 Benign/Likely Benign: not provided 76,733,029(+) G/C
NM_001080510.4(METTL23):c.136G>C (p.Glu46Gln)
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for METTL23 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for METTL23 Gene

Variant ID Type Subtype PubMed ID
nsv1110921 OTHER inversion 24896259
nsv1130707 CNV deletion 24896259
nsv833550 CNV loss 17160897

Variation tolerance for METTL23 Gene

Residual Variation Intolerance Score: 52.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for METTL23 Gene

Human Gene Mutation Database (HGMD)
METTL23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
METTL23

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for METTL23 Gene

Disorders for METTL23 Gene

MalaCards: The human disease database

(3) MalaCards diseases for METTL23 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MET23_HUMAN
  • Mental retardation, autosomal recessive 44 (MRT44) [MIM:615942]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features. {ECO:0000269 PubMed:24501276, ECO:0000269 PubMed:24626631}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for METTL23

genes like me logo Genes that share disorders with METTL23: view

No data available for Genatlas for METTL23 Gene

Publications for METTL23 Gene

  1. METTL23, a transcriptional partner of GABPA, is essential for human cognition. (PMID: 24501276) Reiff RE … Mochida GH (Human molecular genetics 2014) 2 3 4 74
  2. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. (PMID: 24626631) Bernkopf M … Duba HC (Human molecular genetics 2014) 3 4 74
  3. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. Further delineation of METTL23-associated intellectual disability. (PMID: 32067349) Almannai M … Alkuraya FS (American journal of medical genetics. Part A 2020) 3

Products for METTL23 Gene

Sources for METTL23 Gene