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Aliases for CNTLN Gene

Aliases for CNTLN Gene

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

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 seckel syndrome and joubert syndrome 1. GO annotations related to this gene include protein kinase binding and protein binding, bridging.

UniProtKB/Swiss-Prot for CNTLN Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNTLN Gene

Genomics for CNTLN Gene

Regulatory Elements for CNTLN Gene

Enhancers for CNTLN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CNTLN on UCSC Golden Path with GeneCards custom track

Promoters for CNTLN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNTLN on UCSC Golden Path with GeneCards custom track

Genomic Location for CNTLN Gene

Chromosome:
9
Start:
17,134,982 bp from pter
End:
17,503,923 bp from pter
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:
    161603 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13850.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNTLN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNTLN Gene

Proteomics data for CNTLN Gene at MOPED

Post-translational modifications for CNTLN Gene

Other Protein References for CNTLN Gene

No data available for DME Specific Peptides for CNTLN Gene

Domains & Families for CNTLN Gene

Protein Domains for CNTLN Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CNTLN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CNTLN: view

No data available for Gene Families 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.

Gene Ontology (GO) - Molecular Function for CNTLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030674 protein binding, bridging IMP 24554434
genes like me logo Genes that share ontologies with CNTLN: view

Phenotypes for CNTLN Gene

genes like me logo Genes that share phenotypes with CNTLN: view

Animal Model Products

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
Jensen Localization Image for CNTLN Gene COMPARTMENTS Subcellular localization image for CNTLN gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 3
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CNTLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 24554434
genes like me logo Genes that share ontologies with CNTLN: view

Pathways & Interactions for CNTLN Gene

SuperPathways for CNTLN Gene

No Data Available

Interacting Proteins for CNTLN Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000370021%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000328551%0d%0a
Selected Interacting proteins: ENSP00000370021 Q9NXG0-CNTLN_HUMAN for CNTLN Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CNTLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0023014 signal transduction by protein phosphorylation IEA --
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

Unigene Clusters for CNTLN Gene

Centlein, centrosomal protein:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CNTLN

Expression for CNTLN Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CNTLN Gene Hs.435381

genes like me logo Genes that share expression patterns with CNTLN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CNTLN 35
  • 89.91 (n)
  • 84.26 (a)
CNTLN 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNTLN 35
  • 89.69 (n)
  • 85.32 (a)
CNTLN 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cntln 35
  • 82.1 (n)
  • 77.71 (a)
Cntln 16
Cntln 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNTLN 35
  • 98.96 (n)
  • 98.22 (a)
CNTLN 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cntln 35
  • 81.32 (n)
  • 72.82 (a)
oppossum
(Monodelphis domestica)
Mammalia CNTLN 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves C9ORF39 35
  • 68.03 (n)
  • 56.72 (a)
-- 36
  • 62 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CNTLN 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cntln 35
  • 61.78 (n)
  • 50.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4694 35
zebrafish
(Danio rerio)
Actinopterygii si:ch211-2i17.1 35
  • 52.5 (n)
  • 42.66 (a)
cntln 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for CNTLN:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CNTLN Gene

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

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 from dbSNP and Humsavar for CNTLN Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs3808782 - 17,340,866(-) CTTGC(A/G)TTTTT nc-transcript-variant, reference, missense
rs7035276 - 17,394,538(+) GGTCA(C/T)TGAGT nc-transcript-variant, reference, missense
rs2499057 - 17,494,913(+) GTCTT(A/G)CTCTG intron-variant, reference, missense
rs3808795 - 17,273,733(-) AAAGG(C/T)CTAAA nc-transcript-variant, reference, missense
rs3808794 - 17,273,756(-) CTTGC(G/T)TCAAT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv892657 CNV Gain 21882294
dgv8114n71 CNV Gain 21882294
dgv8115n71 CNV Gain 21882294
nsv483026 CNV Loss 15286789
nsv471287 CNV Gain 18288195
nsv466269 CNV Gain 19166990
nsv892662 CNV Loss 21882294
nsv466270 CNV Loss 19166990
nsv892663 CNV Loss 21882294
nsv892664 CNV Loss 21882294
nsv892665 CNV Loss 21882294
nsv892666 CNV Loss 21882294
esv27469 CNV Loss 19812545
nsv892667 CNV Loss 21882294
esv268392 CNV Insertion 20981092
esv2738244 CNV Deletion 23290073
esv2666854 CNV Deletion 23128226
nsv416983 CNV Loss 16902084
nsv510184 CNV Loss 20534489
nsv892668 CNV Loss 21882294
nsv892669 CNV Loss 21882294
nsv892670 CNV Gain 21882294
nsv892671 CNV Gain 21882294
nsv466273 CNV Loss 19166990
nsv523411 CNV Gain 19592680
esv2422265 CNV Duplication 17116639
esv27473 CNV Loss 19812545
esv2661216 CNV Deletion 23128226
nsv526787 CNV Loss 19592680
nsv522698 CNV Loss 19592680

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)

Relevant External Links for CNTLN Gene

HapMap Linkage Disequilibrium report
CNTLN

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

Disorders for CNTLN Gene

MalaCards: The human disease database

(4) MalaCards diseases for CNTLN Gene - From: DISEASES

Disorder Aliases PubMed IDs
seckel syndrome
  • bird-headed dwarfism
joubert syndrome 1
  • joubert syndrome
meckel syndrome 1
  • meckel syndrome
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search CNTLN in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNTLN

Genetic Association Database (GAD)
CNTLN
Human Genome Epidemiology (HuGE) Navigator
CNTLN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNTLN
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. (J. Cell. Sci. 2014) 3 4 67
  2. Identification and characterization of the novel centrosomal protein centlein. (PMID: 18086554) Makino K. … Nakanishi H. (Biochem. Biophys. Res. Commun. 2008) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A regulatory circuit that involves HR23B and HDAC6 governs the biological response to HDAC inhibitors. (PMID: 23703321) New M. … La Thangue N.B. (Cell Death Differ. 2013) 3

Products for CNTLN Gene

Sources for CNTLN Gene

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