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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 Bardet-Biedl Syndrome 1.

UniProtKB/Swiss-Prot for CEP19 Gene

  • Required for ciliation (PubMed:28625565, PubMed:28428259, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes (PubMed:28659385).

Additional gene information for CEP19 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP19 Gene

Genomics for CEP19 Gene

GeneHancer (GH) Regulatory Elements for CEP19 Gene

Promoters and enhancers for CEP19 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
GH03J196710 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 675.6 +0.1 68 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207 ZNF143 CEP19 PIGX UBXN7 SDHAP1 WDR53 RNF168 SENP5 LOC220729 ENSG00000260261 UBXN7-AS1
GH03J196567 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 +143.5 143505 2.6 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CBX5 FBXO45 WDR53 SDHAP1 UBXN7 SDHAP2 RNF168 SENP5 MUC20-OT1 MIR570 ENSG00000260261
GH03J196629 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 10.7 +79.8 79803 6.2 HDGF PKNOX1 SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 POLR2B ZNF766 LINC01063 UBXN7 NRROS SDHAP1 SENP5 LOC220729 CEP19 ENSG00000260261 UBXN7-AS1 TCTEX1D2
GH03J196527 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +183.8 183751 1.8 PKNOX1 ATF1 ARNT SIN3A YY1 GTF3C2 TCF12 ZNF766 GATA2 ZNF143 ENSG00000213358 FBXO45 RNF168 SDHAP1 SDHAP2 MUC20-OT1 ENSG00000230732 WDR53 MUC20P1 UBXN7
GH03J196866 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.2 -155.8 -155752 2.5 HDGF SMAD1 ARNT ARID4B SIN3A YY1 POLR2B ZNF207 ZNF143 SP5 SENP5 NCBP2-AS2 RPL36P7 NCBP2 NCBP2-AS1 CEP19 GC03M196873
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEP19 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CEP19 Gene

Genomic Locations for CEP19 Gene
chr3:196,706,273-196,712,294
(GRCh38/hg38)
Size:
6,022 bases
Orientation:
Minus strand
chr3:196,433,148-196,439,164
(GRCh37/hg19)

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:
    • Interacts with FGFR1OP; this interaction is required for its localization to the mother centriole (PubMed:28625565, PubMed:28428259, PubMed:28659385). Interacts (via residues 121-150) with RABL2B (PubMed:28625565, PubMed:28428259). Interacts (via C-terminus) with CEP350; this interaction is required for its localization to the mother centriole (PubMed:28659385).
    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

Gene Families for CEP19 Gene

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

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

Function for CEP19 Gene

Molecular function for CEP19 Gene

UniProtKB/Swiss-Prot Function:
Required for ciliation (PubMed:28625565, PubMed:28428259, PubMed:28659385). Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes (PubMed:28659385).

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP19

Clone Products

No data available for 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. Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase (PubMed:21399614). Localizes slightly apical to the subdistal appendage on the mother centriole, but below the distal appendage (PubMed:28625565, PubMed:28659385). {ECO:0000269 PubMed:21399614, ECO:0000269 PubMed:28625565}.

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

Subcellular locations from the

Human Protein Atlas (HPA)

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 IDA,IEA 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0034454 microtubule anchoring at centrosome IMP 28659385
GO:0060271 cilium assembly IMP 28428259
GO:0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment IMP 28659385
genes like me logo Genes that share ontologies with CEP19: view

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

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

Unigene Clusters for CEP19 Gene

Centrosomal protein 19kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP19

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for CEP19 Gene

  • Nervous system(4.2)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
Pelvis:
  • ovary
  • pelvis
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
  • white blood cell
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 33
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CEP19 34 33
  • 92.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CEP19 34 33
  • 92.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cep19 16 34 33
  • 83.44 (n)
rat
(Rattus norvegicus)
Mammalia Cep19 33
  • 83.03 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP19 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP19 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP19 34 33
  • 74.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP19 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep19 33
  • 68.51 (n)
zebrafish
(Danio rerio)
Actinopterygii cep19 34 33
  • 54.93 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7139 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CEP19: view image

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 Variation AA Info Type
rs587777230 pathogenic, Morbid obesity and spermatogenic failure 196,707,811(-) G/A coding_sequence_variant, stop_gained
rs1000373958 -- 196,711,475(-) A/G intron_variant
rs1001543566 -- 196,711,841(-) C/T intron_variant
rs1001818922 -- 196,706,426(-) G/T 3_prime_UTR_variant
rs1002102030 -- 196,710,767(-) A/C intron_variant

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)

Additional Variant Information for CEP19 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
morbid obesity and spermatogenic failure
  • mospgf
bardet-biedl syndrome 1
  • bbs1
bardet-biedl syndrome
  • biedl-bardet syndrome
morbid obesity
  • severe obesity
- 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.

Additional Disease Information for 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 JS (The EMBO journal 2011) 2 3 4 58
  2. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. (PMID: 28428259) Nishijima Y … Nakayama K (Molecular biology of the cell 2017) 3 4 58
  3. CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme. (PMID: 28659385) Mojarad BA … Pelletier L (Open biology 2017) 3 4 58
  4. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. (PMID: 28625565) Kanie T … Jackson PK (Developmental cell 2017) 3 4 58
  5. Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice. (PMID: 24268657) Shalata A … Martignetti JA (American journal of human genetics 2013) 3 4 58

Products for CEP19 Gene

Sources for CEP19 Gene

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