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This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]
KRTAP10-2 (Keratin Associated Protein 10-2) is a Protein Coding gene. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP10-9.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | IEA | -- |
GO:0045095 | keratin filament | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology | ||
2 | Keratinization |
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031424 | keratinization | TAS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRTAP10-2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gm3250 31 |
|
ManyToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs146792277 | - | p.Arg241Gly | |||
rs2329834 | - | p.Pro177Leu | |||
rs233239 | - | p.Ala117Pro | |||
rs233240 | - | p.Asn15Asp | |||
rs478967 | - | p.Pro107Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4435n100 | CNV | gain | 25217958 |
esv2723638 | CNV | deletion | 23290073 |
esv2723673 | CNV | deletion | 23290073 |
esv33817 | CNV | loss | 17666407 |
esv3647132 | CNV | gain | 21293372 |
esv7169 | OTHER | inversion | 19470904 |
nsv1055163 | CNV | gain | 25217958 |
nsv587803 | CNV | loss | 21841781 |
No disorders were found for KRTAP10-2 Gene.