Aliases for CEP164 Gene
Aliases for CEP164 Gene
External Ids for CEP164 Gene
- HGNC: 29182
- Entrez Gene: 22897
- Ensembl: ENSG00000110274
- OMIM: 614848
- UniProtKB: Q9UPV0
Previous GeneCards Identifiers for CEP164 Gene
- GC11P116704
- GC11P117198
- GC11P113132
Summaries for CEP164 Gene
-
This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
GeneCards Summary for CEP164 Gene
CEP164 (Centrosomal Protein 164) is a Protein Coding gene. Diseases associated with CEP164 include Nephronophthisis 15 and Senior-Loken Syndrome-1. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.
UniProtKB/Swiss-Prot for CEP164 Gene
-
Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP164 Gene
Genomics for CEP164 Gene
Regulatory Elements for CEP164 Gene
Enhancers for CEP164 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH11G117814 | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 5.7 | +502.8 | 502846 | 6.7 | HDGF PKNOX1 FOXA2 ARNT ZFP64 WRNIP1 ARID4B SIN3A YBX1 ZNF2 | IL10RA DSCAML1 FXYD2 FXYD6-FXYD2 FXYD6 TMPRSS13 CEP164 TMEM25 JAML GC11P117669 |
| GH11G117314 | 1.2 | ENCODE dbSUPER | 0.7 | +1.2 | 1214 | 2.6 | PKNOX1 ZFP64 ARID4B SIN3A ZNF2 ZNF48 YY1 ETS1 ZNF121 GLIS2 | BACE1 GC11M117315 CEP164 |
| GH11G117299 | 1.4 | Ensembl ENCODE dbSUPER | 0.4 | -14.3 | -14311 | 2.3 | TBP FOXA2 PKNOX1 ARID4B DMAP1 ZNF48 RARA KAT2B YY1 TCF12 | LOC653303 BACE1 ENSG00000276505 CEP164 |
| GH11G117303 | 0.4 | ENCODE | 0.4 | -10.5 | -10518 | 0.2 | JUND ZNF362 | ENSG00000252992 ENSG00000276505 CEP164 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CEP164 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CEP164 gene promoter:
Regulatory Element Products
Genomic Location for CEP164 Gene
- Chromosome:
- 11
- Start:
- 117,314,557 bp from pter
- End:
- 117,413,268 bp from pter
- Size:
- 98,712 bases
- Orientation:
- Plus strand
Genomic View for CEP164 Gene
Genes around CEP164 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
CEP164 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CEP164 Gene
Proteins for CEP164 Gene
-
Protein details for CEP164 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UPV0-CE164_HUMAN
- Recommended name:
- Centrosomal protein of 164 kDa
- Protein Accession:
- Q9UPV0
- Q6PKH9
- Q7Z2X9
- Q9NVS0
- Q9UFJ6
Protein attributes for CEP164 Gene
- Size:
- 1460 amino acids
- Molecular mass:
- 164314 Da
- Quaternary structure:
-
- Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation. Interacts with CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4.
- SequenceCaution:
-
- Sequence=AAH00602.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH54015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA83004.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91677.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB56023.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for CEP164 Gene
Post-translational modifications for CEP164 Gene
- Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation.
- Ubiquitination at Lys1359 and posLast=13621362
- Modification sites at PhosphoSitePlus
Other Protein References for CEP164 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001258862.1
- NP_055771.4
- XP_005271510.1
- XP_005271513.1
- XP_005271514.1
- XP_006718851.1
- XP_006718857.1
- XP_011540976.1
- XP_011540992.1
- XP_016872853.1
- XP_016872854.1
- XP_016872855.1
- XP_016872856.1
- XP_016872857.1
- XP_016872858.1
- XP_016872859.1
- XP_016872860.1
- XP_016872861.1
- XP_016872862.1
- XP_016872863.1
- XP_016872864.1
- XP_016872865.1
- XP_016872866.1
- XP_016872867.1
- XP_016872868.1
- XP_016872869.1
- XP_016872870.1
- XP_016872871.1
- XP_016872872.1
- XP_016872873.1
- XP_016872874.1
- XP_016872875.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CEP164
- Novus Biologicals Antibodies for CEP164
- Invitrogen Antibodies for CEP164
- antibodies-online Antibodies for CEP164: See all 29
- GeneTex CEP164 antibody for CEP164
-
Custom Antibody ServicesProSci Antibodies for CEP164
-
Santa Cruz Biotechnology (SCBT) Antibodies for CEP164
Protein Products
-
OriGene Purified Proteins for CEP164
- Search Origene for MassSpec and Protein Over-expression Lysates for CEP164
- Origene Custom Protein Services for CEP164
- Search GeneTex for Proteins for CEP164
Assay Products
- antibodies-online Kits for CEP164: See all 12
No data available for DME Specific Peptides for CEP164 Gene
Domains & Families for CEP164 Gene
Suggested Antigen Peptide Sequences for CEP164 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for CEP164 Gene
Function for CEP164 Gene
Molecular function for CEP164 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 22863007 |
Phenotypes for CEP164 Gene
- MGI mutant phenotypes for CEP164:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CEP164:
Animal Models for CEP164 Gene
- MGI Knock Outs for CEP164:
-
- Cep164 tm1b(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CEP164
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CEP164 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CEP164 gene
- Search ViGene Biosciences for CEP164
CRISPR Products
-
OriGene CRISPR knockouts for CEP164
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP164
- GenScript: Design CRISPR guide RNA sequences for CEP164
miRNA for CEP164 Gene
- miRTarBase miRNAs that target CEP164
miRNA Products
- Search ViGene Biosciences for CEP164
Inhibitory RNA Products
- Origene mouse_rna, siRNA, shRNA, and RNAi products in human, mouse, rat for CEP164
- Browse OriGene Inhibitory RNA Products For CEP164
-
ViGene Biosciences ready-to-package AAV shRNAs for CEP164 gene
Clone Products
-
GenScript: Next-day shipping cDNA ORF clone for CEP164 in any vector
- NM_014956
- NM_001271933
- XM_011542690
- XM_011542689
- XM_011542688
- XM_006718794
- XM_011542687
- XM_005271457
- XM_011542686
- XM_011542685
- XM_005271456
- XM_011542683
- XM_011542682
- XM_011542681
- XM_011542680
- XM_011542679
- XM_011542678
- XM_011542677
- XM_011542676
- XM_005271453
- XM_006718788
- XM_011542675
- XM_011542674
- XM_011542673
- XM_011542672
- XM_011542671
- XM_011542670
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CEP164
- VectorBuilder custom plasmid, inducible vectors for CEP164
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CEP164
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CEP164
-
ViGene Biosciences adenoviral particle packaged cDNA for CEP164 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CEP164 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CEP164 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CEP164 Gene
Localization for CEP164 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CEP164 Gene
- Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation (PubMed:26337392). Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1. {ECO:0000269 PubMed:26337392}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IDA | 22664934 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | IDA | 21399614 |
Pathways & Interactions for CEP164 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of PLK1 Activity at G2/M Transition |
.49
|
|
| 2 | Cell Cycle, Mitotic |
.83
|
|
| 3 | Organelle biogenesis and maintenance |
.56
|
|
Pathways by source for CEP164 Gene
13 Reactome pathways for CEP164 Gene
Interacting Proteins for CEP164 Gene
Selected Interacting proteins:
ENSP00000278935
Q9UPV0-CE164_HUMAN
for CEP164 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007067 | mitotic nuclear division | IEA | -- |
No data available for SIGNOR curated interactions for CEP164 Gene
Transcripts for CEP164 Gene
mRNA/cDNA for CEP164 Gene
- (32) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (118) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CEP164 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CEP164
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP164
- GenScript: Design CRISPR guide RNA sequences for CEP164
miRNA Products
- Search ViGene Biosciences for CEP164
Inhibitory RNA Products
- Origene mouse_rna, siRNA, shRNA, and RNAi products in human, mouse, rat for CEP164
- Browse OriGene Inhibitory RNA Products For CEP164
-
ViGene Biosciences ready-to-package AAV shRNAs for CEP164 gene
Clone Products
-
GenScript: Next-day shipping cDNA ORF clone for CEP164 in any vector
- NM_014956
- NM_001271933
- XM_011542690
- XM_011542689
- XM_011542688
- XM_006718794
- XM_011542687
- XM_005271457
- XM_011542686
- XM_011542685
- XM_005271456
- XM_011542683
- XM_011542682
- XM_011542681
- XM_011542680
- XM_011542679
- XM_011542678
- XM_011542677
- XM_011542676
- XM_005271453
- XM_006718788
- XM_011542675
- XM_011542674
- XM_011542673
- XM_011542672
- XM_011542671
- XM_011542670
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CEP164
- VectorBuilder custom plasmid, inducible vectors for CEP164
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CEP164
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
| ExUns: | 24b | ^ | 25a | · | 25b | · | 25c | · | 25d | ^ | 26 | ^ | 27a | · | 27b | · | 27c | ^ | 28a | · | 28b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||
| SP3: | - | - | |||||||||||||||||||
| SP4: | |||||||||||||||||||||
| SP5: | - |
Expression for CEP164 Gene
This gene is overexpressed in Fetal gut (21.7), Liver (14.4), and Colon (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP164 Gene
NURSA nuclear receptor signaling pathways regulating expression of CEP164 Gene:
CEP164SOURCE GeneReport for Unigene cluster for CEP164 Gene:
Hs.504009mRNA Expression by UniProt/SwissProt for CEP164 Gene:
Q9UPV0-CE164_HUMAN
Tissue specificity:
Expressed in several cell lines.
Evidence on tissue expression from TISSUES for CEP164 Gene
- Nervous system(4.3)
- Skin(4.2)
- Blood(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP164 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- nervous
- skeletal muscle
- urinary
Organs:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
- pituitary gland
Thorax:
- heart
Abdomen:
- kidney
- liver
- pancreas
Pelvis:
- urinary bladder
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for CEP164
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for CEP164 Gene
Orthologs for CEP164 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CEP164 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CEP164 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CEP164 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cep164 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cep164 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | CEP164 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CEP164 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CEP164 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cep164 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CABZ01087562.1 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG9170 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.12255 34 |
|
- Species where no ortholog for CEP164 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CEP164 Gene
(1) SIMAP similar genes for CEP164 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for CEP164 Gene
No data available for Paralogs for CEP164 Gene
Variants for CEP164 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387907309 | Pathogenic, Nephronophthisis 15 (NPHP15) [MIM:614845] | 117,338,618(+) | AGATC(A/C)GCTGG | intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs387907310 | Pathogenic, Nephronophthisis 15 (NPHP15) [MIM:614845] | 117,351,872(+) | ACTAT(C/T)GGAGC | nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| rs145646425 | Pathogenic | 117,387,204(+) | GTAGG(C/T)GATCC | intron-variant, nc-transcript-variant, reference, stop-gained | |
| rs387907311 | Pathogenic | 117,381,864(+) | CCCTC(C/T)AGAGG | nc-transcript-variant, reference, stop-gained | |
| rs886041567 | Pathogenic | 117,390,788(+) | GAGGG(-/A)GCGGC | nc-transcript-variant, reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2678884 | CNV | deletion | 23128226 |
| esv2745118 | CNV | deletion | 23290073 |
| esv2745120 | CNV | deletion | 23290073 |
| esv3627849 | CNV | gain | 21293372 |
| esv3627850 | CNV | gain | 21293372 |
| esv3627851 | CNV | loss | 21293372 |
| esv3627853 | CNV | loss | 21293372 |
| nsv1038815 | CNV | gain | 25217958 |
| nsv1040918 | CNV | gain | 25217958 |
| nsv1052364 | CNV | gain | 25217958 |
| nsv39581 | CNV | deletion | 16902084 |
| nsv477444 | CNV | novel sequence insertion | 20440878 |
| nsv517908 | CNV | loss | 19592680 |
| nsv972074 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.82;
91.73% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CEP164 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP164 Gene
Disorders for CEP164 Gene
(8) MalaCards diseases for CEP164 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephronophthisis 15 |
|
|
| senior-loken syndrome-1 |
|
|
| nephronophthisis |
|
|
| spinocerebellar ataxia 11 |
|
|
| short-rib thoracic dysplasia 1 with or without polydactyly |
|
|
Search CEP164 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CE164_HUMAN- Nephronophthisis 15 (NPHP15) [MIM:614845]: An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. {ECO:0000269 PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CEP164
No data available for Genatlas for CEP164 Gene
Publications for CEP164 Gene
- UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PMID: 19197159) Pan Y.R. … Lee E.Y. (Cell Cycle 2009) 3 4 22 64
- Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. (PMID: 18283122) Sivasubramaniam S. … Lee E.Y. (Genes Dev. 2008) 3 4 22 64
- Cep164, a novel centriole appendage protein required for primary cilium formation. (PMID: 17954613) Graser S. … Nigg E.A. (J. Cell Biol. 2007) 3 4 22 64
- Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 64
- Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4 64
Products for CEP164 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CEP164
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CEP164
- Search Origene for MassSpec and Protein Over-expression Lysates for CEP164
- Origene Custom Protein Services for CEP164
- Origene mouse_rna, siRNA, shRNA, and RNAi products in human, mouse, rat for CEP164
- Browse OriGene Inhibitory RNA Products For CEP164
- OriGene qPCR primer pairs for CEP164
- OriGene CRISPR knockouts for CEP164
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CEP164
- GenScript: Next-day shipping cDNA ORF clone for CEP164 in any vector
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- GenScript Custom Purified and Recombinant Proteins Services for CEP164
- GenScript Custom Assay Services for CEP164
- GenScript Custom overexpressing Cell Line Services for CEP164
- GenScript: Design CRISPR guide RNA sequences for CEP164
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- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
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- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CEP164
- Novus Biologicals proteins and lysates for CEP164
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for CEP164
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CEP164
- antibodies-online Antibodies for CEP164: See all 29
- antibodies-online Kits for CEP164: See all 12
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- GeneTex CEP164 antibody for CEP164
- Search GeneTex for Proteins for CEP164
- ViGene Biosciences adenoviral particle packaged cDNA for CEP164 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CEP164 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CEP164 gene
- Search ViGene Biosciences for CEP164
- Santa Cruz Biotechnology (SCBT) Antibodies for CEP164
- Search Santa Cruz Biotechnology (SCBT) for CEP164 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CEP164
- Custom Antibody ServicesProSci Antibodies for CEP164
- Search for CEP164 Proteins at ProSci
- Horizon Cell Lines for CEP164
- Cyagen custom Knockout/knockin (KOKI) mouse models for CEP164
- VectorBuilder custom plasmid, inducible vectors for CEP164
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CEP164
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CEP164 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
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- (127) Disease Ontology
- (128) Genetics Home Reference
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- (130) MedlinePlus
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- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
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- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer