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C12orf43 (Chromosome 12 Open Reading Frame 43) is a Protein Coding gene. Diseases associated with C12orf43 include Maturity-Onset Diabetes Of The Young, Type 3 and Maturity-Onset Diabetes Of The Young.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21044950 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | IEA | -- |
GO:0016055 | Wnt signaling pathway | IEA | -- |
GO:0030178 | negative regulation of Wnt signaling pathway | IBA | 21873635 |
GO:0060061 | Spemann organizer formation | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||
SP6: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C12ORF43 31 |
|
OneToOne | |
C12H12orf43 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | C17H12orf43 30 |
|
||
C12orf43 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C26H12orf43 30 |
|
||
OASL2 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | RGD1311899 30 |
|
||
Mouse (Mus musculus) |
Mammalia | 2210016L21Rik 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C12orf43 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf43 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C12orf43 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | C8H12orf43 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
673537 | Benign: not provided | 121,001,041(-) | T/C | THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
802898 | Likely Benign: Maturity-onset diabetes of the young, type 3 | 121,002,057(-) | G/A | THREE_PRIME_UTR_VARIANT | |
880941 | Uncertain Significance: Maturity-onset diabetes of the young, type 3 | 121,001,527(-) | C/T | THREE_PRIME_UTR_VARIANT | |
880942 | Likely Benign: Maturity-onset diabetes of the young, type 3 | 121,001,781(-) | C/T | THREE_PRIME_UTR_VARIANT | |
880943 | Uncertain Significance: Maturity-onset diabetes of the young, type 3 | 121,001,813(-) | C/T | THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759917 | CNV | loss | 17122850 |
esv3580504 | CNV | loss | 25503493 |
nsv1039216 | CNV | gain | 25217958 |
nsv521928 | CNV | gain | 19592680 |
nsv832531 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
maturity-onset diabetes of the young, type 3 |
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maturity-onset diabetes of the young |
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