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Aliases for METTL23 Gene

Aliases for METTL23 Gene

  • Methyltransferase Like 23 2 3 5
  • C17orf95 3 4
  • Chromosome 17 Open Reading Frame 95 2
  • Methyltransferase-Like Protein 23 3
  • EC 2.1.1.- 4
  • 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. GO annotations related to this gene include methyltransferase activity. An important paralog of this gene is ENSG00000267168.

UniProtKB/Swiss-Prot for METTL23 Gene

  • Probable methyltransferase.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for METTL23 Gene

Genomics for METTL23 Gene

Regulatory Elements for METTL23 Gene

Enhancers for METTL23 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G076694 2 FANTOM5 Ensembl ENCODE dbSUPER 25.4 -26.9 -26858 8.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 SLC30A9 MXRA7 UNK METTL23 ENSG00000266980 RNU6-227P JMJD6 MFSD11 PRCD TRIM65 ENSG00000267546
GH17G076638 1.6 Ensembl ENCODE dbSUPER 20.6 -83.2 -83216 7.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 SIN3A ZNF766 DEK ZHX2 MXRA7 METTL23 H3F3B UNK JMJD6 AANAT UBE2O RNU6-24P ST6GALNAC1 GC17M076570
GH17G076669 1.4 ENCODE dbSUPER 21.8 -53.6 -53624 4.6 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 UNK MXRA7 ENSG00000266980 METTL23 MFSD11 H3F3B TRIM65 ENSG00000267078 ENSG00000267546 ST6GALNAC2
GH17G076734 2.7 Ensembl ENCODE dbSUPER 10.1 +11.4 11386 7.8 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 UNK MXRA7 ENSG00000267342 ENSG00000267546 CDK3 H3F3B ENSG00000266980 TRIM65 PRCD ENSG00000272386
GH17G076513 2 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -210.1 -210120 5.4 HDGF PKNOX1 ARNT WRNIP1 SIN3A FEZF1 YBX1 ZNF2 ZNF416 ZNF207 UNK ENSG00000267342 TRIM65 ENSG00000266980 ENSG00000267546 CDK3 ENSG00000267801 METTL23 LINC02080 MYO15B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around METTL23 on UCSC Golden Path with GeneCards custom track

Promoters for METTL23 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098626 727 2401 PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for METTL23 Gene

Chromosome:
17
Start:
76,725,873 bp from pter
End:
76,733,936 bp from pter
Size:
8,064 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=Translation N-terminally shortened.; 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

Protein Domains for METTL23 Gene

Suggested Antigen Peptide Sequences for METTL23 Gene

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

Gene Ontology (GO) - Molecular Function for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with METTL23: view

Phenotypes for METTL23 Gene

GenomeRNAi human phenotypes for METTL23:
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

Animal Model Products

CRISPR Products

miRNA for METTL23 Gene

miRTarBase miRNAs that target METTL23

Inhibitory RNA Products

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
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with METTL23: view

Pathways & Interactions for METTL23 Gene

SuperPathways for METTL23 Gene

No Data Available

Interacting Proteins for METTL23 Gene

Gene Ontology (GO) - Biological Process for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
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

Unigene Clusters for METTL23 Gene

Methyltransferase like 23:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
METTL23

Expression for METTL23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for METTL23 Gene



Protein tissue co-expression partners for METTL23 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of METTL23 Gene:

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
Organs:
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

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 34
  • 99.47 (n)
C17ORF95 35
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia METTL23 34 35
  • 90.18 (n)
cow
(Bos Taurus)
Mammalia METTL23 34 35
  • 89.47 (n)
mouse
(Mus musculus)
Mammalia Mettl23 34 16 35
  • 85.96 (n)
rat
(Rattus norvegicus)
Mammalia Mettl23 34
  • 85.71 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves METTL23 34
  • 71.84 (n)
-- 35
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mettl23 34
  • 66.84 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-366l1.2 34
  • 63.64 (n)
METTL23 35
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5013 34 35
  • 55.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001222 34
  • 51.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G63855 34
  • 53.39 (n)
rice
(Oryza sativa)
Liliopsida Os02g0120300 34
  • 54.03 (n)
Species where no ortholog for METTL23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for METTL23 Gene

Paralogs for METTL23 Gene

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

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

Variants for METTL23 Gene

Sequence variations from dbSNP and Humsavar for METTL23 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs587777644 Pathogenic 76,733,062(+) TGCCT(-/CACT)GTCTG intron-variant, reference, frameshift-variant, utr-variant-5-prime
rs587777645 Pathogenic 76,733,175(+) CCACA(-/AGATA)TTATC intron-variant, reference, frameshift-variant
rs587777646 Pathogenic 76,733,367(+) CTTAT(C/T)AAGTT nc-transcript-variant, reference, stop-gained
rs1057518401 Likely pathogenic 76,733,658(+) CTGGT(-/AAATGCTGGT)CATTT nc-transcript-variant, downstream-variant-500B, reference, utr-variant-3-prime, frameshift-variant
rs777158919 Uncertain significance 76,733,376(+) TTAGG(A/G)GGCAA nc-transcript-variant, reference, missense

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)

Relevant External Links for METTL23 Gene

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

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: OMIM, ClinVar, Orphanet, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Relevant External Links for METTL23

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 R.E. … Mochida G.H. (Hum. Mol. Genet. 2014) 2 3 4 64
  2. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. (PMID: 24626631) Bernkopf M. … Duba H.C. (Hum. Mol. Genet. 2014) 3 4 64
  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 Genet. 2013) 3 4 64
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for METTL23 Gene

Sources for METTL23 Gene

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