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Aliases for CEP57 Gene

Aliases for CEP57 Gene

  • Centrosomal Protein 57 2 3 5
  • Testis-Specific Protein 57 3 4
  • Centrosomal Protein 57kDa 2 3
  • FGF2-Interacting Protein 3 4
  • Translokin 3 4
  • TSP57 3 4
  • Proliferation-Inducing Protein 8 3
  • Centrosomal Protein Of 57 KDa 3
  • KIAA0092 4
  • Cep57 4
  • MVA2 3
  • PIG8 3

External Ids for CEP57 Gene

Previous GeneCards Identifiers for CEP57 Gene

  • GC11P095165
  • GC11P095523
  • GC11P091589

Summaries for CEP57 Gene

Entrez Gene Summary for CEP57 Gene

  • This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for CEP57 Gene

CEP57 (Centrosomal Protein 57) is a Protein Coding gene. Diseases associated with CEP57 include Mosaic Variegated Aneuploidy Syndrome 2 and Mosaic Variegated Aneuploidy Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CEP57L1.

UniProtKB/Swiss-Prot for CEP57 Gene

  • Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1.

Gene Wiki entry for CEP57 Gene

Additional gene information for CEP57 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP57 Gene

Genomics for CEP57 Gene

GeneHancer (GH) Regulatory Elements for CEP57 Gene

Promoters and enhancers for CEP57 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I095788 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 590.6 +0.5 451 4.4 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 CEP57 FAM76B FGFR3P2 MAML2 JRKL LOC101929295 MTMR2 GC11M095802
GH11I095796 Promoter 0.5 EPDnew 550.4 +5.5 5505 0.1 CEP57 LOC101929295 FAM76B GC11M095802
GH11I095922 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 32.8 +134.2 134188 3.2 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 MTMR2 CEP57 FAM76B FGFR3P2 GC11M095916
GH11I096153 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 32.3 +366.1 366124 5.8 HDGF PKNOX1 ATF1 SMAD1 ZFP64 SIN3A IRF4 ZNF766 ZNF213 FOS FAM76B CEP57 FGFR3P2 CCDC82 JRKL MAML2 GC11P096202 GC11M095989
GH11I095146 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 20.3 -639.4 -639436 7.8 HDGF PKNOX1 ARNT ARID4B SIN3A IRF4 YY1 ZNF766 CBX5 ZNF143 LOC101929295 CEP57 FAM76B FGFR3P2 SESN3 ANKRD49 MRE11 SRSF8 ENDOD1 LOC105369435
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEP57 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEP57 gene promoter:

Genomic Locations for CEP57 Gene

Genomic Locations for CEP57 Gene
42,729 bases
Plus strand

Genomic View for CEP57 Gene

Genes around CEP57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP57 Gene

Proteins for CEP57 Gene

  • Protein details for CEP57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosomal protein of 57 kDa
    Protein Accession:
    Secondary Accessions:
    • A0PJH1
    • A8K5D0
    • B4DDP5
    • F5H5F7
    • Q14704
    • Q5JB46
    • Q8IXP0
    • Q9BVF9

    Protein attributes for CEP57 Gene

    500 amino acids
    Molecular mass:
    57089 Da
    Quaternary structure:
    • Homodimer and homooligomer. Interacts with microtubules. Interacts with FGF2 and RAP80. Does not interact with FGF1 or FGF2 isoform 24 kDa.
    • Sequence=AAH29385.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA07654.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEP57 Gene

    Alternative splice isoforms for CEP57 Gene


neXtProt entry for CEP57 Gene

Post-translational modifications for CEP57 Gene

  • Ubiquitination at Lys95, posLast=106106, posLast=167167, Lys230, Lys248, and posLast=396396

No data available for DME Specific Peptides for CEP57 Gene

Domains & Families for CEP57 Gene

Gene Families for CEP57 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CEP57 Gene

Suggested Antigen Peptide Sequences for CEP57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro.
  • Belongs to the translokin family.
  • The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro.
  • The centrosome localization domain (CLD) region mediates the localization to centrosomes and homooligomerization.
  • Belongs to the translokin family.
genes like me logo Genes that share domains with CEP57: view

Function for CEP57 Gene

Molecular function for CEP57 Gene

UniProtKB/Swiss-Prot Function:
Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1.

Phenotypes From GWAS Catalog for CEP57 Gene

Gene Ontology (GO) - Molecular Function for CEP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15607035
GO:0008017 microtubule binding IBA --
GO:0017134 fibroblast growth factor binding IPI 12717444
GO:0042802 identical protein binding IEA --
GO:0042803 protein homodimerization activity IPI 12717444
genes like me logo Genes that share ontologies with CEP57: view
genes like me logo Genes that share phenotypes with CEP57: view

Human Phenotype Ontology for CEP57 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP57 Gene

Localization for CEP57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP57 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

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 CEP57 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
golgi apparatus 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubules (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 12954732
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 10942595
GO:0005813 centrosome IDA 14654843
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CEP57: view

Pathways & Interactions for CEP57 Gene

genes like me logo Genes that share pathways with CEP57: view

Gene Ontology (GO) - Biological Process for CEP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation ISS 12717444
GO:0000070 mitotic sister chromatid segregation IBA --
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0007286 spermatid development ISS 12954732
GO:0008543 fibroblast growth factor receptor signaling pathway IPI 12717444
genes like me logo Genes that share ontologies with CEP57: view

No data available for SIGNOR curated interactions for CEP57 Gene

Drugs & Compounds for CEP57 Gene

No Compound Related Data Available

Transcripts for CEP57 Gene

Unigene Clusters for CEP57 Gene

Centrosomal protein 57kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP57 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - -
SP6: -
SP7: - -

Relevant External Links for CEP57 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CEP57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP57 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP57 Gene

This gene is overexpressed in Cerebrospinal fluid (26.2), Peripheral blood mononuclear cells (25.3), and Monocytes (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CEP57 Gene

Protein tissue co-expression partners for CEP57 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEP57 Gene:


SOURCE GeneReport for Unigene cluster for CEP57 Gene:


mRNA Expression by UniProt/SwissProt for CEP57 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CEP57 Gene

  • Blood(4.2)
  • Bone marrow(4.2)
  • Kidney(4.2)
  • Nervous system(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP57 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • thyroid
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CEP57: view

No data available for mRNA differential expression in normal tissues for CEP57 Gene

Orthologs for CEP57 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP57 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CEP57 33 34
  • 99.73 (n)
(Bos Taurus)
Mammalia CEP57 33 34
  • 90.65 (n)
(Canis familiaris)
Mammalia CEP57 33 34
  • 89.67 (n)
(Mus musculus)
Mammalia Cep57 33 16 34
  • 87.35 (n)
(Rattus norvegicus)
Mammalia Cep57 33
  • 85.54 (n)
(Monodelphis domestica)
Mammalia CEP57 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia CEP57 34
  • 63 (a)
(Gallus gallus)
Aves CEP57 33 34
  • 64.17 (n)
(Anolis carolinensis)
Reptilia CEP57 34
  • 51 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cep57 33
  • 58.62 (n)
(Danio rerio)
Actinopterygii cep57 33
  • 53.02 (n)
CEP57 34
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3538 34
  • 39 (a)
Species where no ortholog for CEP57 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)
  • 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 CEP57 Gene

Gene Tree for CEP57 (if available)
Gene Tree for CEP57 (if available)

Paralogs for CEP57 Gene

Paralogs for CEP57 Gene Pseudogenes for CEP57 Gene

genes like me logo Genes that share paralogs with CEP57: view

Variants for CEP57 Gene

Sequence variations from dbSNP and Humsavar for CEP57 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1060501986 uncertain-significance, Mosaic variegated aneuploidy syndrome 2 95,817,802(+) G/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs117321017 benign, Mosaic variegated aneuploidy syndrome 2 95,813,062(+) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11742 benign, Mosaic variegated aneuploidy syndrome 2 95,821,924(+) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs117602509 benign, Mosaic variegated aneuploidy syndrome 2 95,821,986(+) G/A intron_variant, non_coding_transcript_variant
rs141738388 uncertain-significance, Charcot-Marie-Tooth, Type 4 95,833,103(+) T/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CEP57 Gene

Variant ID Type Subtype PubMed ID
esv2606020 CNV deletion 19546169
esv3579857 CNV loss 25503493
esv3627359 CNV loss 21293372
nsv832235 CNV gain 17160897

Variation tolerance for CEP57 Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.61; 82.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP57 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP57 Gene

Disorders for CEP57 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CEP57 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mosaic variegated aneuploidy syndrome 2
  • mva2
mosaic variegated aneuploidy syndrome
  • mva syndrome
mitral valve stenosis
  • mitral stenosis
mitral valve insufficiency
  • congenital insufficiency of mitral valve
- elite association - COSMIC cancer census association via MalaCards
Search CEP57 in MalaCards View complete list of genes associated with diseases


  • Mosaic variegated aneuploidy syndrome 2 (MVA2) [MIM:614114]: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269 PubMed:21552266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CEP57

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CEP57: view

No data available for Genatlas for CEP57 Gene

Publications for CEP57 Gene

  1. Translokin is an intracellular mediator of FGF-2 trafficking. (PMID: 12717444) Bossard C … Prats H (Nature cell biology 2003) 3 4 22 58
  2. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 58
  3. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. (PMID: 21552266) Snape K … Rahman N (Nature genetics 2011) 3 4 58
  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 44 58
  5. Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2. (PMID: 19804566) Meunier S … Prats H (Traffic (Copenhagen, Denmark) 2009) 3 22 58

Products for CEP57 Gene

Sources for CEP57 Gene

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