Aliases for CNTLN Gene

Aliases for CNTLN Gene

  • Centlein 2 3 4 5
  • Centlein, Centrosomal Protein 2 3
  • Centrosomal Protein 3 4
  • BA340N12.1 2 3
  • C9orf101 3 4
  • C9orf39 3 4
  • Chromosome 9 Open Reading Frame 101 2
  • Chromosome 9 Open Reading Frame 39 2
  • OTTHUMG00000019597 2
  • FLJ20276 2
  • CNTLN 5

External Ids for CNTLN Gene

Previous HGNC Symbols for CNTLN Gene

  • C9orf101
  • C9orf39

Summaries for CNTLN Gene

GeneCards Summary for CNTLN Gene

CNTLN (Centlein) is a Protein Coding gene. Diseases associated with CNTLN include Orofaciodigital Syndrome Vii and Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein binding, bridging.

UniProtKB/Swiss-Prot Summary for CNTLN Gene

  • Required for centrosome cohesion and recruitment of CEP68 to centrosomes.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTLN Gene

Genomics for CNTLN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNTLN Gene
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
GH09J017134 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 259 +0.5 524 2.6 ZNF600 POLR2A ZNF10 ZIC2 ZBTB10 YY1 ZNF341 KLF7 MAX KMT2B CNTLN MK280144-678 SH3GL2
GH09J017322 Enhancer 0.9 VISTA UCNEbase Ensembl 46.5 +188.3 188306 2.2 GATA2 lnc-BNC2-3 lnc-SH3GL2-3 CNTLN piR-50443-373 SH3GL2
GH09J017394 Enhancer 0.9 UCNEbase Ensembl ENCODE 27.9 +260.4 260419 2.4 YY1 POU5F1 NANOG POLR2A CNTLN RF00017-6877 piR-52294-143 SH3GL2
GH09J017342 Enhancer 0.4 UCNEbase 45.3 +207.9 207858 0.4 REST CNTLN piR-50443-373 piR-33422-441 SH3GL2
GH09J017082 Enhancer 0.7 Ensembl ENCODE 23.1 -52.7 -52681 1.4 ZNF10 ZIC2 CTCF GATA2 TRIM28 RAD21 ZBTB6 SMC3 CNTLN piR-33303-179 RPS29P33 ENSG00000237153 BNC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNTLN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTLN

Top Transcription factor binding sites by QIAGEN in the CNTLN gene promoter:
  • ATF-2
  • c-Ets-1
  • Elk-1
  • FOXD3
  • FOXF2
  • FOXO1
  • FOXO1a
  • Nkx2-5

Genomic Locations for CNTLN Gene

Latest Assembly
chr9:17,134,982-17,510,020
(GRCh38/hg38)
Size:
375,039 bases
Orientation:
Plus strand

Previous Assembly
chr9:17,135,038-17,503,921
(GRCh37/hg19 by Entrez Gene)
Size:
368,884 bases
Orientation:
Plus strand

chr9:17,134,980-17,503,921
(GRCh37/hg19 by Ensembl)
Size:
368,942 bases
Orientation:
Plus strand

Genomic View for CNTLN Gene

Genes around CNTLN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNTLN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNTLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNTLN Gene

Proteins for CNTLN Gene

  • Protein details for CNTLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXG0-CNTLN_HUMAN
    Recommended name:
    Centlein
    Protein Accession:
    Q9NXG0
    Secondary Accessions:
    • A5Z2X6
    • Q5VYJ0
    • Q8N1G9
    • Q9HAJ5

    Protein attributes for CNTLN Gene

    Size:
    1405 amino acids
    Molecular mass:
    161571 Da
    Quaternary structure:
    • Interacts with CEP250 and CEP68. Interacts with NEK2; the interaction leads to phosphorylation of CNTLN.
    SequenceCaution:
    • Sequence=BAA91052.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13850.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNTLN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTLN Gene

Post-translational modifications for CNTLN Gene

No data available for DME Specific Peptides for CNTLN Gene

Domains & Families for CNTLN Gene

Gene Families for CNTLN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CNTLN Gene

InterPro:
Blocks:
  • Histidine kinase A, N-terminal

Suggested Antigen Peptide Sequences for CNTLN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61043 (B1AMC8_HUMAN)
  • Centrosomal protein (CNTLN_HUMAN)
genes like me logo Genes that share domains with CNTLN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CNTLN Gene

Function for CNTLN Gene

Molecular function for CNTLN Gene

UniProtKB/Swiss-Prot Function:
Required for centrosome cohesion and recruitment of CEP68 to centrosomes.

Phenotypes From GWAS Catalog for CNTLN Gene

Gene Ontology (GO) - Molecular Function for CNTLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0019901 protein kinase binding IPI 24554434
GO:0019904 protein domain specific binding IPI 24554434
GO:0030674 protein binding, bridging IMP 24554434
genes like me logo Genes that share ontologies with CNTLN: view
genes like me logo Genes that share phenotypes with CNTLN: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTLN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNTLN Gene

Localization for CNTLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNTLN Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Colocalizes with gamma-tubulin during interphase and mitosis. Appears to associate with the mother centriole during G1 phase and with daughter centrioles towards G1/S phase (By similarity). Localizes to the proximal ends of the centrioles (PubMed:24554434). Levels are high at interphase centrosomes but are reduced on mitotic spindle poles (PubMed:24554434). {ECO:0000250 UniProtKB:A9ZSY0, ECO:0000269 PubMed:24554434}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNTLN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
extracellular 4
cytosol 4
plasma membrane 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNTLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 24554434
GO:0005813 centrosome IBA,IDA --
GO:0005814 centriole IBA,IDA 24554434
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CNTLN: view

Pathways & Interactions for CNTLN Gene

PathCards logo

SuperPathways for CNTLN Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNTLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010457 centriole-centriole cohesion IBA,IMP 24554434
GO:0033365 protein localization to organelle IBA,IMP 24554434
genes like me logo Genes that share ontologies with CNTLN: view

No data available for Pathways by source and SIGNOR curated interactions for CNTLN Gene

Drugs & Compounds for CNTLN Gene

No Compound Related Data Available

Transcripts for CNTLN Gene

mRNA/cDNA for CNTLN Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTLN

Alternative Splicing Database (ASD) splice patterns (SP) for CNTLN Gene

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
SP1:
SP2:
SP3: -
SP4:

Relevant External Links for CNTLN Gene

GeneLoc Exon Structure for
CNTLN

Expression for CNTLN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNTLN Gene

Protein differential expression in normal tissues from HIPED for CNTLN Gene

This gene is overexpressed in Platelet (36.5), Plasma (12.9), and Urinary Bladder (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNTLN Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNTLN

SOURCE GeneReport for Unigene cluster for CNTLN Gene:

Hs.435381

Evidence on tissue expression from TISSUES for CNTLN Gene

  • Stomach(4.1)
  • Kidney(2.3)
  • Nervous system(2.3)
  • Liver(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with CNTLN: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTLN Gene

Orthologs for CNTLN Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNTLN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CNTLN 29 30
  • 98.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CNTLN 29 30
  • 89.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNTLN 29 30
  • 89.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cntln 29 16 30
  • 82.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cntln 29
  • 81.32 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 69 (a)
OneToMany
-- 30
  • 59 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia CNTLN 30
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C9ORF39 29
  • 68.03 (n)
-- 30
  • 62 (a)
OneToMany
-- 30
  • 56 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia CNTLN 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cntln 29
  • 61.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4694 29
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-2i17.1 29
  • 52.5 (n)
cntln 30
  • 36 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 30 (a)
OneToOne
Species where no ortholog for CNTLN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • 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 CNTLN Gene

ENSEMBL:
Gene Tree for CNTLN (if available)
TreeFam:
Gene Tree for CNTLN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNTLN: view image
Alliance of Genome Resources:
Additional Orthologs for CNTLN

Paralogs for CNTLN Gene

(4) SIMAP similar genes for CNTLN Gene using alignment to 3 proteins:

  • CNTLN_HUMAN
  • C9J1F9_HUMAN
  • J3KN33_HUMAN
genes like me logo Genes that share paralogs with CNTLN: view

No data available for Paralogs for CNTLN Gene

Variants for CNTLN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTLN Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs10963108 Benign: not provided 17,457,515(+) A/T
NM_017738.4(CNTLN):c.3115-9A>T
INTRON
rs138152539 Benign: not provided 17,394,804(+) T/C
NM_017738.4(CNTLN):c.2350T>C (p.Leu784=)
SYNONYMOUS
rs190047946 Benign: not provided 17,309,122(+) G/A
NM_017738.4(CNTLN):c.1211G>A (p.Ser404Asn)
MISSENSE
rs28377535 Benign: not provided 17,466,804(+) A/G
NM_017738.4(CNTLN):c.3768A>G (p.Ala1256=)
SYNONYMOUS
rs536923331 Benign: not provided 17,415,962(+) G/T
NM_017738.4(CNTLN):c.2891-4G>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNTLN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CNTLN Gene

Variant ID Type Subtype PubMed ID
esv2422265 CNV duplication 17116639
esv2661216 CNV deletion 23128226
esv2666854 CNV deletion 23128226
esv2738244 CNV deletion 23290073
esv27469 CNV loss 19812545
esv27473 CNV loss 19812545
esv2764141 CNV loss 21179565
esv3304113 CNV mobile element insertion 20981092
esv3336164 CNV insertion 20981092
esv3544609 CNV deletion 23714750
esv3544610 CNV deletion 23714750
esv3544612 CNV deletion 23714750
esv3573158 CNV loss 25503493
esv3619834 CNV loss 21293372
esv3619835 CNV loss 21293372
esv3619836 CNV loss 21293372
esv3619837 CNV loss 21293372
esv3619839 CNV loss 21293372
esv3619840 CNV loss 21293372
esv3619842 CNV loss 21293372
esv3619843 CNV loss 21293372
esv3891627 CNV loss 25118596
esv3891628 CNV loss 25118596
esv3891629 CNV loss 25118596
nsv1015524 CNV loss 25217958
nsv1030291 CNV loss 25217958
nsv1031269 CNV loss 25217958
nsv1074844 CNV deletion 25765185
nsv1077094 CNV deletion 25765185
nsv1129301 CNV insertion 24896259
nsv1146643 CNV deletion 26484159
nsv416983 CNV deletion 16902084
nsv466269 CNV gain 19166990
nsv466270 CNV loss 19166990
nsv466273 CNV loss 19166990
nsv471287 CNV gain 18288195
nsv477833 CNV novel sequence insertion 20440878
nsv510184 OTHER sequence alteration 20534489
nsv522698 CNV loss 19592680
nsv523411 CNV gain 19592680
nsv526787 CNV loss 19592680
nsv613693 CNV gain 21841781
nsv613694 CNV loss 21841781
nsv613695 CNV loss 21841781
nsv613696 CNV loss 21841781
nsv613697 CNV loss 21841781
nsv613698 CNV loss 21841781
nsv613699 CNV loss 21841781
nsv957716 CNV deletion 24416366

Variation tolerance for CNTLN Gene

Residual Variation Intolerance Score: 89.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.99; 93.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNTLN Gene

Human Gene Mutation Database (HGMD)
CNTLN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNTLN
Leiden Open Variation Database (LOVD)
CNTLN

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTLN Gene

Disorders for CNTLN Gene

MalaCards: The human disease database

(30) MalaCards diseases for CNTLN Gene - From: COP

Additional Disease Information for CNTLN

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CNTLN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNTLN Gene

Publications for CNTLN Gene

  1. Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion. (PMID: 24554434) Fang G … Yuan L (Journal of cell science 2014) 3 4
  2. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M … Probst-Hensch NM (The Journal of allergy and clinical immunology 2012) 3 40
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. (PMID: 19648919) Song H … Gayther SA (Nature genetics 2009) 3 40

Products for CNTLN Gene

Sources for CNTLN Gene