METTL23 (methyltransferase like 23)

2014-11-01  

Identity

HGNC
METTL23
LOCATION
17q25.1
LOCUSID
124512
ALIAS
C17orf95,MRT44
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 124512
MIM: 615262
HGNC: 26988
Ensembl: ENSG00000181038

Variants:

dbSNP: 124512
ClinVar: 124512
TCGA: ENSG00000181038
COSMIC: METTL23

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181038ENST00000341249Q86XA0
ENSG00000181038ENST00000341249A0A024R8M5
ENSG00000181038ENST00000586200K7EL83
ENSG00000181038ENST00000586738K7ERS2
ENSG00000181038ENST00000586752Q86XA0
ENSG00000181038ENST00000588302K7ESG7
ENSG00000181038ENST00000588563K7EPR8
ENSG00000181038ENST00000588783K7ERS2
ENSG00000181038ENST00000588822Q86XA0
ENSG00000181038ENST00000588964K7ENU9
ENSG00000181038ENST00000589977K7EJ00
ENSG00000181038ENST00000590964Q86XA0
ENSG00000181038ENST00000591571K7EMR3
ENSG00000181038ENST00000592849K7EPT5
ENSG00000181038ENST00000615984Q86XA0
ENSG00000181038ENST00000615984A0A024R8M5

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
320673492020Further delineation of METTL23-associated intellectual disability.5
324396182020Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.7
328780222020Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.8
320673492020Further delineation of METTL23-associated intellectual disability.5
324396182020Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.7
328780222020Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.8
245012762014METTL23, a transcriptional partner of GABPA, is essential for human cognition.26
246266312014Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.16
245012762014METTL23, a transcriptional partner of GABPA, is essential for human cognition.26
246266312014Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.16

Citation

Dessen P

METTL23 (methyltransferase like 23)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68919/mettl23-(methyltransferase-like-23)