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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]
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.
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 |
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 |
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 |
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | METTL23 30 |
|
||
C17ORF95 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | METTL23 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | METTL23 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mettl23 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mettl23 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | METTL23 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mettl23 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch73-366l1.2 30 |
|
||
METTL23 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5013 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001222 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G63855 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0120300 30 |
|
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1110921 | OTHER | inversion | 24896259 |
nsv1130707 | CNV | deletion | 24896259 |
nsv833550 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal recessive 44 |
|
|
autosomal recessive non-syndromic intellectual disability |
|
|
pontocerebellar hypoplasia, type 2a |
|
|