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 Cell Cycle, Mitotic 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.
Additional gene information for CEP164 Gene
- Monarch Initiative
- Search for CEP164 at DataMed
- Search for CEP164 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP164 Gene
Genomics for CEP164 Gene
GeneHancer (GH) Regulatory Elements for CEP164 Gene
Promoters and enhancers for CEP164 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CEP164 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CEP164 gene promoter:
-
- p53
- YY1
Regulatory Element Products
Genomic Locations for CEP164 Gene
Genomic Locations for CEP164 Gene
- chr11:117,314,557-117,413,268
- (GRCh38/hg38)
- Size:
- 98,712 bases
- Orientation:
- Plus strand
- chr11:117,185,273-117,283,984
- (GRCh37/hg19)
- 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 Entrez Gene
- 11q23.3 by HGNC
- 11q23.3 by Ensembl
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 posLast=13621362 and posLast=13591359
- Modification sites at PhosphoSitePlus
Other Protein References for CEP164 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005271513.1
- XP_016872854.1
- XP_016872874.1
- XP_016872864.1
- XP_016872872.1
- XP_016872862.1
- XP_011540976.1
- XP_016872855.1
- XP_016872875.1
- XP_016872865.1
- NP_055771.4
- XP_016872870.1
- XP_016872860.1
- XP_016872853.1
- XP_016872873.1
- XP_016872863.1
- XP_005271510.1
- XP_006718857.1
- XP_011540992.1
- XP_016872871.1
- XP_016872861.1
- NP_001258862.1
- XP_016872858.1
- XP_016872868.1
- XP_016872856.1
- XP_016872866.1
- XP_005271514.1
- XP_006718851.1
- XP_016872859.1
- XP_016872869.1
- XP_016872857.1
- XP_016872867.1
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CEP164
- Novus Biologicals Antibodies for CEP164
- Invitrogen Antibodies for CEP164
- GeneTex CEP164 Antibody 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
No data available for DME Specific Peptides for CEP164 Gene
Domains & Families for CEP164 Gene
Gene Families for CEP164 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for CEP164 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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.
Phenotypes From GWAS Catalog for CEP164 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,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 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
-
CRISPR Products
-
OriGene CRISPR knockouts for CEP164
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP164
- genomics-online: gRNA clones - Search results for 48 available CEP164 gene related products
- Overview of 48 available CEP164 gene related products
- Applied Biological Materials CRISPR for CEP164
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP164
- Browse OriGene Inhibitory RNA Products For CEP164
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP164
- genomics-online: shRNA clones - Search results for 48 available CEP164 gene related products
- Overview of 48 available CEP164 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for CEP164 in any vector
- NM_014956.4
- XM_017017365.1
- XM_017017368.1
- XM_011542690.1
- XM_006718794.1
- XM_017017380.1
- XM_017017366.1
- XM_017017370.1
- XM_005271453.1
- XM_017017373.1
- NM_001271933.1
- XM_017017364.1
- XM_017017367.1
- XM_017017369.1
- XM_017017374.1
- XM_017017376.1
- XM_017017381.1
- XM_017017382.1
- XM_017017375.1
- XM_006718788.1
- XM_017017372.1
- XM_017017377.1
- XM_005271457.1
- XM_017017383.1
- XM_011542674.1
- XM_017017378.1
- XM_017017386.1
- XM_017017371.1
- XM_005271456.1
- XM_017017384.1
- XM_017017385.1
- XM_017017379.1
- Sino Biological Human cDNA Clone 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
- Addgene plasmids for CEP164
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CEP164
- Applied Biological Materials Clones for CEP164
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CEP164
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 |
- Centrosome (4)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA | 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:
Q9UPV0-CE164_HUMAN
ENSP00000278935
for CEP164 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CEP164
| 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:0010389 | regulation of G2/M transition of mitotic cell cycle | TAS | -- |
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 :
-
- ENST00000525734 616 bps (uc058hts.1)
- ENST00000533153 585 bps (uc058htu.1)
- ENST00000278935 5630 bps (uc001prc.4)
- ENST00000525416 778 bps (uc058htv.1)
- ENST00000527609 585 bps (uc058htw.1)
Unigene Clusters for CEP164 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CEP164
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CEP164
- genomics-online: gRNA clones - Search results for 48 available CEP164 gene related products
- Overview of 48 available CEP164 gene related products
- Applied Biological Materials CRISPR for CEP164
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CEP164
- GenScript: Design CRISPR guide RNA sequences for CEP164
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CEP164
- Browse OriGene Inhibitory RNA Products For CEP164
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP164
- genomics-online: shRNA clones - Search results for 48 available CEP164 gene related products
- Overview of 48 available CEP164 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for CEP164 in any vector
- NM_014956.4
- XM_017017365.1
- XM_017017368.1
- XM_011542690.1
- XM_006718794.1
- XM_017017380.1
- XM_017017366.1
- XM_017017370.1
- XM_005271453.1
- XM_017017373.1
- NM_001271933.1
- XM_017017364.1
- XM_017017367.1
- XM_017017369.1
- XM_017017374.1
- XM_017017376.1
- XM_017017381.1
- XM_017017382.1
- XM_017017375.1
- XM_006718788.1
- XM_017017372.1
- XM_017017377.1
- XM_005271457.1
- XM_017017383.1
- XM_011542674.1
- XM_017017378.1
- XM_017017386.1
- XM_017017371.1
- XM_005271456.1
- XM_017017384.1
- XM_017017385.1
- XM_017017379.1
- Sino Biological Human cDNA Clone 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
- Addgene plasmids for CEP164
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CEP164
- Applied Biological Materials Clones for CEP164
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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, 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
Regions:
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
Gene Expression Assay Products
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 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CEP164 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CEP164 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cep164 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cep164 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | CEP164 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CEP164 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CEP164 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cep164 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CABZ01087562.1 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG9170 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.12255 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.12255 33 |
|
- 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)
Evolution for CEP164 Gene
- ENSEMBL:
- Gene Tree for CEP164 (if available)
- TreeFam:
- Gene Tree for CEP164 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CEP164: view image
Paralogs for CEP164 Gene
(1) SIMAP similar genes for CEP164 Gene using alignment to 6 proteins:
- CE164_HUMAN
- E9PI05_HUMAN
- E9PIM2_HUMAN
- E9PLS8_HUMAN
- E9PR73_HUMAN
- L8E8L4_HUMAN
Pseudogenes.org Pseudogenes for CEP164 Gene
No data available for Paralogs for CEP164 Gene
Variants for CEP164 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112209873 | uncertain-significance, likely-benign, not specified, Nephronophthisis 15 | 117,381,729(+) | C/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs115051850 | benign, not specified, Nephronophthisis 15 | 117,409,796(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
| rs117083334 | benign, not specified, Nephronophthisis 15 | 117,381,721(+) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs142545580 | likely-benign, Nephronophthisis 15 | 117,395,011(+) | A/G | genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant | |
| rs143512199 | likely-benign, Nephronophthisis 15 | 117,382,910(+) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_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)
Additional Variant Information for CEP164 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP164 Gene
Disorders for CEP164 Gene
(7) MalaCards diseases for CEP164 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephronophthisis 15 |
|
|
| senior-loken syndrome 1 |
|
|
| nephronophthisis |
|
|
| spinocerebellar ataxia 11 |
|
|
| interstitial nephritis |
|
|
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.
Additional Disease Information for CEP164
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 YR … Lee EY (Cell cycle (Georgetown, Tex.) 2009) 3 4 22 58
- Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. (PMID: 18283122) Sivasubramaniam S … Lee EY (Genes & development 2008) 3 4 22 58
- Cep164, a novel centriole appendage protein required for primary cilium formation. (PMID: 17954613) Graser S … Nigg EA (The Journal of cell biology 2007) 3 4 22 58
- Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen JS … Mann M (Nature 2003) 2 3 4 58
- 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
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Sources for CEP164 Gene
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