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KIF19 (Kinesin Family Member 19) is a Protein Coding gene. Diseases associated with KIF19 include Orofaciodigital Syndrome I. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF1A.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH17J074324 | Promoter/Enhancer | 1.2 | EPDnew Ensembl ENCODE | 600.7 | -0.1 | -109 | 0.6 | HNRNPL KDM1A EZH2 TCF12 POLR2A SMARCA5 SIN3A BACH1 | KIF19 LOC105371891 DNAI2 | |
GH17J074326 | Promoter | 0.4 | Ensembl | 606 | +0.5 | 491 | 0.2 | NR2F2 | KIF19 LOC107985078 BTBD17 | |
GH17J074192 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 1.9 | -132.6 | -132584 | 2 | CEBPG CREB1 GATAD2A TFE3 KDM1A RCOR2 TARDBP FOXA1 SP1 CEBPA | HSALNG0118631 TTYH2 KIF19 RPL38 SDK2 | |
GH17J074813 | Enhancer | 0.5 | FANTOM5 dbSUPER | 4.7 | +487.0 | 487020 | 0.4 | ZIC2 | GRIN2C FADS6 CD300E KIF19 KCTD2 RAB37 lnc-NAT9-2 lnc-SLC9A3R1-4 TMEM104 | |
GH17J074807 | Enhancer | 0.8 | FANTOM5 Ensembl dbSUPER | 1.8 | +482.4 | 482391 | 2.4 | ZFHX2 SPI1 RCOR1 CHD2 | lnc-NAT9-2 GRIN2C RAB37 FADS6 TMEM104 NAT9 CD300E KCTD2 KIF19 lnc-SLC9A3R1-4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003774 | motor activity | IEA | -- |
GO:0003777 | microtubule motor activity | IBA | 21873635 |
GO:0005524 | ATP binding | IEA | -- |
GO:0008017 | microtubule binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005871 | kinesin complex | IBA | 21873635 |
GO:0005874 | microtubule | IBA | 21873635 |
GO:0005929 | cilium | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Golgi-to-ER retrograde transport |
.52
|
|
2 | Vesicle-mediated transport | ||
3 | Factors involved in megakaryocyte development and platelet production | ||
4 | Response to elevated platelet cytosolic Ca2+ |
.44
|
Symbol | External ID(s) | Details |
---|---|---|
CDK3 | ||
CENPE | ||
ENSG00000272822 | ||
KIF11 | ||
KIF13B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007018 | microtubule-based movement | IBA | 21873635 |
GO:0060404 | axonemal microtubule depolymerization | IEA,ISS | -- |
GO:0070462 | plus-end specific microtubule depolymerization | IEA,ISS | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KIF19 30 |
|
||
-- 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | KIF19 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kif19a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kif19 30 |
|
||
Cow (Bos Taurus) |
Mammalia | KIF19 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KIF19 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KIF19 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KIF19 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KIF19 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kif19 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kif19 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Kif19A 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | klp-13 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KIP3 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711078 | Likely Benign: not provided | 74,344,842(+) | G/A | MISSENSE_VARIANT | |
775333 | Benign: not provided | 74,349,251(+) | G/A | MISSENSE_VARIANT | |
779462 | Benign: not provided | 74,344,293(+) | AG/A | NONSENSE | |
rs2271535 | - | p.Arg807His | |||
rs2382644 | - | p.Arg471Trp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12e196 | CNV | duplication | 17116639 |
dgv3282n100 | CNV | gain | 25217958 |
dgv372n27 | CNV | gain | 19166990 |
dgv5768n54 | CNV | gain | 21841781 |
dgv5770n54 | CNV | loss | 21841781 |
dgv5771n54 | CNV | loss | 21841781 |
dgv5772n54 | CNV | loss | 21841781 |
dgv5773n54 | CNV | loss | 21841781 |
esv2657435 | CNV | deletion | 23128226 |
esv2660286 | CNV | deletion | 23128226 |
esv2716214 | CNV | deletion | 23290073 |
esv2716215 | CNV | deletion | 23290073 |
esv2716216 | CNV | deletion | 23290073 |
esv2716217 | CNV | deletion | 23290073 |
esv2751770 | CNV | gain | 17911159 |
esv2761978 | CNV | gain | 21179565 |
esv29259 | CNV | loss | 19812545 |
esv33995 | CNV | loss | 17666407 |
esv3554769 | CNV | deletion | 23714750 |
esv3573820 | CNV | gain | 25503493 |
esv3641230 | CNV | gain | 21293372 |
esv3641237 | CNV | gain | 21293372 |
esv3641239 | CNV | loss | 21293372 |
esv3641240 | CNV | loss | 21293372 |
nsv509673 | CNV | insertion | 20534489 |
nsv517569 | CNV | gain+loss | 19592680 |
nsv576005 | CNV | loss | 21841781 |
nsv576020 | CNV | loss | 21841781 |
nsv833538 | CNV | gain | 17160897 |
nsv833539 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
orofaciodigital syndrome i |
|
|