Gene Information
|
Gene Name
|
KATNIP |
|
Gene ID
|
23247
|
|
Gene Full Name
|
katanin interacting protein |
|
Gene Alias
|
JBTS26|KIAA0556 |
|
Transcripts
|
ENSG00000047578
|
|
Virus
|
HBV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm, Basal body;Primary cilium, Centriolar satellite; 
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
O60303
|
|
HGNC ID
|
HGNC:29068
|
|
OMIM ID
|
616650 |
|
Summary
|
This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016] |
Target gene [KATNIP] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 1006785 |
chr16 |
0 |
12 |
22 |
34 |
View |
Target gene [KATNIP] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE35465
|
Chip-seq;RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
|
C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE270130
|
Chip-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
C GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
C GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE35465 - KATNIP peak across samples
|
Peak Plot
|
> Dataset: GSE68402 - KATNIP peak across samples
|
Peak Plot
|
> Dataset: GSE270130 - KATNIP peak across samples
|
Peak Plot
|
> Dataset: GSE100400 - KATNIP peak across samples
|
Peak Plot
|
> Dataset: GSE131257 - KATNIP peak across samples
|
Peak Plot
|
|
|
HBV Target gene Detail Information
