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KIAA1614 (KIAA1614) is a Protein Coding gene. Diseases associated with KIAA1614 include Fanconi Anemia, Complementation Group E. An important paralog of this gene is SYNJ2BP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005080 | protein kinase C binding | IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO:0017048 | Rho GTPase binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005938 | cell cortex | IBA | 21873635 |
GO:0016324 | apical plasma membrane | IBA | 21873635 |
Symbol | External ID(s) | Details |
---|---|---|
ENSG00000272822 | ||
ABL1 | ||
ABL2 | ||
ACVR1 | ||
ACVR1B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007098 | centrosome cycle | IBA | 21873635 |
GO:0007163 | establishment or maintenance of cell polarity | IBA | 21873635 |
GO:0060341 | regulation of cellular localization | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KIAA1614 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KIAA1614 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KIAA1614 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | BC034090 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RGD1304622 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KIAA1614 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KIAA1614 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | KIAA1614 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-121a11.3 31 |
|
OneToMany | |
si:ch211-13f8.1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10732273 | - | p.Leu64Pro | |||
rs17302207 | - | p.Arg740Trp | |||
rs2331995 | - | p.Asn1078Asp | |||
rs3747959 | - | p.His214Tyr | |||
rs3795504 | - | p.Leu801Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3890804 | CNV | gain | 25118596 |
nsv1001918 | CNV | loss | 25217958 |
nsv1068340 | CNV | deletion | 25765185 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fanconi anemia, complementation group e |
|
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