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Aliases for CEP19 Gene

Aliases for CEP19 Gene

  • Centrosomal Protein 19kDa 2 3
  • C3orf34 3 4
  • Chromosome 3 Open Reading Frame 34 2
  • MOSPGF 3
  • Cep19 4

External Ids for CEP19 Gene

Previous HGNC Symbols for CEP19 Gene

  • C3orf34

Previous GeneCards Identifiers for CEP19 Gene

  • GC03M196434

Summaries for CEP19 Gene

Entrez Gene Summary for CEP19 Gene

  • The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]

GeneCards Summary for CEP19 Gene

CEP19 (Centrosomal Protein 19kDa) is a Protein Coding gene. Diseases associated with CEP19 include obesity due to cep19 deficiency and morbid obesity and spermatogenic failure.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP19 Gene

Genomics for CEP19 Gene

Genomic Location for CEP19 Gene

196,706,273 bp from pter
196,712,294 bp from pter
6,022 bases
Minus strand

Genomic View for CEP19 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP19 Gene

No data available for Regulatory Elements for CEP19 Gene

Proteins for CEP19 Gene

  • Protein details for CEP19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Centrosomal protein of 19 kDa
    Protein Accession:
    Secondary Accessions:
    • B2RA74
    • Q96I48

    Protein attributes for CEP19 Gene

    163 amino acids
    Molecular mass:
    19166 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAM47487.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71691.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for CEP19 Gene

Proteomics data for CEP19 Gene at MOPED

Post-translational modifications for CEP19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP19 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CEP19 Gene

Domains & Families for CEP19 Gene

Protein Domains for CEP19 Gene


Suggested Antigen Peptide Sequences for CEP19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CEP19 family.
  • Belongs to the CEP19 family.
genes like me logo Genes that share domains with CEP19: view

No data available for Gene Families for CEP19 Gene

Function for CEP19 Gene

Gene Ontology (GO) - Molecular Function for CEP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CEP19: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP19 Gene

Localization for CEP19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP19 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, cilium basal body. Note=Associates with the mother centriole in early interphase. Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase.

Subcellular locations from

Jensen Localization Image for CEP19 Gene COMPARTMENTS Subcellular localization image for CEP19 gene
Compartment Confidence
cytoskeleton 5

Gene Ontology (GO) - Cellular Components for CEP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 21399614
GO:0005814 centriole IDA 21399614
GO:0036064 ciliary basal body IDA 24268657
genes like me logo Genes that share ontologies with CEP19: view

Pathways & Interactions for CEP19 Gene

SuperPathways for CEP19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP19 Gene


No data available for Pathways by source and SIGNOR curated interactions for CEP19 Gene

Drugs & Compounds for CEP19 Gene

No Compound Related Data Available

Transcripts for CEP19 Gene

mRNA/cDNA for CEP19 Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CEP19 Gene

Centrosomal protein 19kDa:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP19

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP19 Gene

No ASD Table

Relevant External Links for CEP19 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CEP19 Gene

mRNA expression in normal human tissues for CEP19 Gene

mRNA differential expression in normal tissues according to GTEx for CEP19 Gene

This gene is overexpressed in Whole Blood (x6.4).

SOURCE GeneReport for Unigene cluster for CEP19 Gene Hs.282800

genes like me logo Genes that share expression patterns with CEP19: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CEP19 Gene

Orthologs for CEP19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP19 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CEP19 35
  • 92.43 (n)
  • 93.87 (a)
CEP19 36
  • 94 (a)
(Canis familiaris)
Mammalia CEP19 35
  • 92.43 (n)
  • 93.25 (a)
CEP19 36
  • 93 (a)
(Mus musculus)
Mammalia Cep19 35
  • 83.44 (n)
  • 85.28 (a)
Cep19 16
Cep19 36
  • 85 (a)
(Pan troglodytes)
Mammalia CEP19 35
  • 99.4 (n)
  • 99.4 (a)
CEP19 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cep19 35
  • 83.03 (n)
  • 85.63 (a)
(Monodelphis domestica)
Mammalia CEP19 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia CEP19 36
  • 78 (a)
(Gallus gallus)
Aves CEP19 35
  • 74.53 (n)
  • 77.02 (a)
CEP19 36
  • 75 (a)
(Anolis carolinensis)
Reptilia CEP19 36
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cep19 35
  • 68.51 (n)
  • 71.17 (a)
(Danio rerio)
Actinopterygii cep19 35
  • 54.93 (n)
  • 52.2 (a)
cep19 36
  • 52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7139 36
  • 41 (a)
Species with no ortholog for CEP19:
  • 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 CEP19 Gene

Gene Tree for CEP19 (if available)
Gene Tree for CEP19 (if available)

Paralogs for CEP19 Gene Pseudogenes for CEP19 Gene

genes like me logo Genes that share paralogs with CEP19: view

No data available for Paralogs for CEP19 Gene

Variants for CEP19 Gene

Sequence variations from dbSNP and Humsavar for CEP19 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1718422 -- 196,708,079(+) GTAGA(A/G)CCATT intron-variant
rs2686597 -- 196,707,250(+) ggtct(C/T)gaact utr-variant-3-prime
rs2880021 -- 196,709,647(-) GACAT(C/T)ACTGA intron-variant
rs6776064 -- 196,708,663(+) TCCCA(C/T)GTACA reference, missense
rs6785167 -- 196,709,115(+) TTAGT(A/G)TACTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP19 Gene

Variant ID Type Subtype PubMed ID
dgv5375n71 CNV Gain 21882294
nsv829828 CNV Loss 17160897
nsv878189 CNV Loss 21882294

Variation tolerance for CEP19 Gene

Residual Variation Intolerance Score: 65.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.19; 84.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP19 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP19 Gene

Disorders for CEP19 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CEP19 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
obesity due to cep19 deficiency
morbid obesity and spermatogenic failure
  • mo1 syndrome
morbid obesity
  • severe obesity
  • obesity, association with
- elite association
Search CEP19 in MalaCards View complete list of genes associated with diseases


  • Morbid obesity and spermatogenic failure (MOSPGF) [MIM:615703]: An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. {ECO:0000269 PubMed:24268657}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CEP19: view

No data available for Genatlas for CEP19 Gene

Publications for CEP19 Gene

  1. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L. … Andersen J.S. (EMBO J. 2011) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice. (PMID: 24268657) Shalata A. … Martignetti J.A. (Am. J. Hum. Genet. 2013) 67
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 67

Products for CEP19 Gene

Sources for CEP19 Gene

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