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Aliases for CEP19 Gene

Aliases for CEP19 Gene

  • Centrosomal Protein 19 2 3 5
  • Centrosomal Protein 19kDa 2 3
  • C3orf34 3 4
  • Chromosome 3 Open Reading Frame 34 2
  • Centrosomal Protein Of 19 KDa 3
  • 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 19) is a Protein Coding gene. Diseases associated with CEP19 include Morbid Obesity And Spermatogenic Failure and Morbid Obesity.

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

Regulatory Elements for CEP19 Gene

Enhancers for CEP19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F196710 1.1 ENCODE 25.6 +0.1 69 3.0 HDGF ATF1 PKNOX1 ARID4B SIN3A GLI4 DMAP1 YBX1 ZNF2 ZNF121 CEP19 ENSG00000249626 RNU6-646P
GH03F196790 1.3 Ensembl ENCODE 17.8 -80.3 -80294 5.1 HDGF ATF1 PKNOX1 ARNT ARID4B SIN3A ZNF2 BRCA1 SLC30A9 GATA2 CEP19 SENP5 NCBP2-AS1 NCBP2 MELTF-AS1 PIGX PAK2 SDHAP1 TCTEX1D2 GC03M196785
GH03F196687 1.1 Ensembl ENCODE 20.4 +20.7 20694 8.0 CTCF KLF1 MAX CDC5L CEBPG RAD21 ZFHX2 ZNF316 ZNF366 EGR1 CEP19 MELTF-AS1 PIGX LINC01063 NCBP2 RNU6-42P LOC220729 TM4SF19 RNU6-910P GC03M196709
GH03F196650 1.5 FANTOM5 Ensembl ENCODE 12.2 +60.9 60879 2.8 GATA2 FOS DEK ZNF263 JUNB CREB3 MEF2D SMARCA4 MYNN STAT3 CEP19 MELTF-AS1 NRROS PIGX GC03M196709
GH03F196608 1.6 FANTOM5 Ensembl ENCODE 11.4 +101.1 101140 4.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A YBX1 ZNF143 FOS DEK ENSG00000260261 ENSG00000231443 ENSG00000271662 LINC01063 LINC00969 NRROS UBXN7 UBXN7-AS1 CEP19 ENSG00000230732
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CEP19 on UCSC Golden Path with GeneCards custom track

Promoters for CEP19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001383913 -306 2001 HDGF ATF1 PKNOX1 ARID4B SIN3A GLI4 DMAP1 YBX1 ZNF2 ZNF121

Genomic Location for CEP19 Gene

Chromosome:
3
Start:
196,706,273 bp from pter
End:
196,712,294 bp from pter
Size:
6,022 bases
Orientation:
Minus strand

Genomic View for CEP19 Gene

Genes around CEP19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP19 Gene

Proteins for CEP19 Gene

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

    Protein Symbol:
    Q96LK0-CEP19_HUMAN
    Recommended name:
    Centrosomal protein of 19 kDa
    Protein Accession:
    Q96LK0
    Secondary Accessions:
    • B2RA74
    • Q96I48

    Protein attributes for CEP19 Gene

    Size:
    163 amino acids
    Molecular mass:
    19166 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

Post-translational modifications for CEP19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP19 Gene

No data available for DME Specific Peptides for CEP19 Gene

Domains & Families for CEP19 Gene

Protein Domains for CEP19 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96LK0

UniProtKB/Swiss-Prot:

CEP19_HUMAN :
  • Belongs to the CEP19 family.
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
genes like me logo Genes that share phenotypes with CEP19: view

Human Phenotype Ontology for CEP19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEP19 Gene

MGI Knock Outs for CEP19:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 (PubMed:21399614). Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase (PubMed:21399614). {ECO:0000269 PubMed:21399614}.

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 CEP19 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CEP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 21399614
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005814 centriole IEA,IDA 21399614
GO:0005856 cytoskeleton IEA --
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

None

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

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

Clone Products

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
CEP19
ECgene alternative splicing isoforms for
CEP19

Expression for CEP19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP19 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of CEP19 Gene:

CEP19

SOURCE GeneReport for Unigene cluster for CEP19 Gene:

Hs.282800
genes like me logo Genes that share expression patterns with CEP19: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CEP19 34 35
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia CEP19 34 35
  • 92.43 (n)
dog
(Canis familiaris)
Mammalia CEP19 34 35
  • 92.43 (n)
mouse
(Mus musculus)
Mammalia Cep19 34 16 35
  • 83.44 (n)
rat
(Rattus norvegicus)
Mammalia Cep19 34
  • 83.03 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP19 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP19 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP19 34 35
  • 74.53 (n)
lizard
(Anolis carolinensis)
Reptilia CEP19 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep19 34
  • 68.51 (n)
zebrafish
(Danio rerio)
Actinopterygii cep19 34 35
  • 54.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7139 35
  • 41 (a)
OneToOne
Species where no ortholog for CEP19 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 CEP19 Gene

ENSEMBL:
Gene Tree for CEP19 (if available)
TreeFam:
Gene Tree for CEP19 (if available)

Paralogs for CEP19 Gene

Pseudogenes.org 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
rs587777230 Pathogenic 196,707,811(+) ACCTC(A/G)TAAAA reference, stop-gained
rs10669996 -- 196,711,108(+) TTTTT(-/TT)ACTAG intron-variant, upstream-variant-2KB
rs10855 -- 196,712,578(+) TGCTC(C/T)TCGGG upstream-variant-2KB, reference, missense
rs111371675 -- 196,711,503(+) GTATT(A/T)TCAGT intron-variant, upstream-variant-2KB
rs11185453 -- 196,714,269(+) GACCA(C/G)CCTGG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1001045 CNV gain 25217958
nsv1003135 CNV gain 25217958
nsv1009975 CNV gain 25217958
nsv1014526 CNV gain 25217958
nsv1014692 CNV gain 25217958
nsv829828 CNV loss 17160897

Variation tolerance for CEP19 Gene

Residual Variation Intolerance Score: 65.4% 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

Human Gene Mutation Database (HGMD)
CEP19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP19

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

Disorders for CEP19 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

CEP19_HUMAN
  • 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:
CEP19
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 3 4 64
  2. 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) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64

Products for CEP19 Gene

Sources for CEP19 Gene

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