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This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
FBXO38 (F-Box Protein 38) is a Protein Coding gene. Diseases associated with FBXO38 include Neuronopathy, Distal Hereditary Motor, Type Iid and Distal Hereditary Motor Neuronopathy Type 2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 30487606 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0019005 | SCF ubiquitin ligase complex | TAS | 30487606 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002842 | positive regulation of T cell mediated immune response to tumor cell | IDA | 30487606 |
GO:0010976 | positive regulation of neuron projection development | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||
SP14: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBXO38 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FBXO38 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBXO38 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fbxo38 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FBXO38 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO38 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FBXO38 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FBXO38 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | FBXO38 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835051 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,406,318(+) |
G/A NM_205836.3(FBXO38):c.792G>A (p.Leu264=) |
SYNONYMOUS | |
835391 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,427,450(+) |
A/G NM_205836.3(FBXO38):c.2156A>G (p.Asn719Ser) |
MISSENSE_VARIANT,INTRON | |
836217 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,433,453(+) |
A/G NM_205836.3(FBXO38):c.2683A>G (p.Met895Val) |
MISSENSE | |
837373 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,404,799(+) |
C/A NM_205836.3(FBXO38):c.707C>A (p.Thr236Asn) |
MISSENSE | |
837626 | Uncertain Significance: Distal hereditary motor neuronopathy 2D | 148,424,067(+) |
C/A NM_205836.3(FBXO38):c.1688C>A (p.Pro563Gln) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuronopathy, distal hereditary motor, type iid |
|
|
distal hereditary motor neuronopathy type 2 |
|
|
autosomal dominant distal hereditary motor neuronopathy |
|
|
charcot-marie-tooth disease |
|
|
spinal muscular atrophy |
|
|