Aliases for CNPPD1 Gene

Aliases for CNPPD1 Gene

  • Cyclin Pas1/PHO80 Domain Containing 1 2 3 5
  • Cyclin Pas1/PHO80 Domain-Containing Protein 1 3 4
  • Protein CNPPD1 3 4
  • C2orf24 3 4
  • CGI-57 2 3
  • Chromosome 2 Open Reading Frame 24 2
  • CNPPD1 5

External Ids for CNPPD1 Gene

Previous HGNC Symbols for CNPPD1 Gene

  • C2orf24

Previous GeneCards Identifiers for CNPPD1 Gene

  • GC02M220037

Summaries for CNPPD1 Gene

GeneCards Summary for CNPPD1 Gene

CNPPD1 (Cyclin Pas1/PHO80 Domain Containing 1) is a Protein Coding gene. Diseases associated with CNPPD1 include Omodysplasia. Gene Ontology (GO) annotations related to this gene include protein kinase binding.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNPPD1 Gene

Genomics for CNPPD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNPPD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNPPD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNPPD1

Genomic Locations for CNPPD1 Gene

Latest Assembly
chr2:219,171,897-219,179,272
(GRCh38/hg38)
Size:
7,376 bases
Orientation:
Minus strand

Previous Assembly
chr2:220,036,619-220,042,878
(GRCh37/hg19 by Entrez Gene)
Size:
6,260 bases
Orientation:
Minus strand

chr2:220,036,619-220,042,828
(GRCh37/hg19 by Ensembl)
Size:
6,210 bases
Orientation:
Minus strand

Genomic View for CNPPD1 Gene

Genes around CNPPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNPPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNPPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNPPD1 Gene

Proteins for CNPPD1 Gene

  • Protein details for CNPPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV87-CNPD1_HUMAN
    Recommended name:
    Protein CNPPD1
    Protein Accession:
    Q9BV87
    Secondary Accessions:
    • B2RC77
    • O75548
    • Q9H4N0
    • Q9UQN0

    Protein attributes for CNPPD1 Gene

    Size:
    410 amino acids
    Molecular mass:
    45456 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CNPPD1 Gene

Post-translational modifications for CNPPD1 Gene

  • Ubiquitination at Lys341
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNPPD1 Gene

Domains & Families for CNPPD1 Gene

Gene Families for CNPPD1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CNPPD1 Gene

InterPro:
Blocks:
  • Cyclin-related 2

Suggested Antigen Peptide Sequences for CNPPD1 Gene

GenScript: Design optimal peptide antigens:
  • Cyclin Pas1/PHO80 domain-containing protein 1 (CNPD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BV87

UniProtKB/Swiss-Prot:

CNPD1_HUMAN :
  • Belongs to the CNPPD1 family.
Family:
  • Belongs to the CNPPD1 family.
genes like me logo Genes that share domains with CNPPD1: view

Function for CNPPD1 Gene

Phenotypes From GWAS Catalog for CNPPD1 Gene

Gene Ontology (GO) - Molecular Function for CNPPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity IBA 21873635
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with CNPPD1: view
genes like me logo Genes that share phenotypes with CNPPD1: view

Animal Models for CNPPD1 Gene

MGI Knock Outs for CNPPD1:
  • Cnppd1 Cnppd1<tm1.1(KOMP)Vlcg>

miRNA for CNPPD1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNPPD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CNPPD1 Gene

Localization for CNPPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNPPD1 Gene

Membrane. Single-pass membrane protein.

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 CNPPD1 gene
Compartment Confidence
nucleus 3
cytoskeleton 1
peroxisome 1
cytosol 1
plasma membrane 0
extracellular 0
mitochondrion 0
endoplasmic reticulum 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for CNPPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000307 cyclin-dependent protein kinase holoenzyme complex IBA 21873635
GO:0005634 nucleus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CNPPD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNPPD1 Gene

Pathways & Interactions for CNPPD1 Gene

PathCards logo

SuperPathways for CNPPD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNPPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with CNPPD1: view

No data available for Pathways by source and SIGNOR curated interactions for CNPPD1 Gene

Drugs & Compounds for CNPPD1 Gene

No Compound Related Data Available

Transcripts for CNPPD1 Gene

mRNA/cDNA for CNPPD1 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNPPD1

Alternative Splicing Database (ASD) splice patterns (SP) for CNPPD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - - -
SP2: - - - -
SP3:
SP4: -
SP5:
SP6: -
SP7: - - - - - -
SP8:

Relevant External Links for CNPPD1 Gene

GeneLoc Exon Structure for
CNPPD1

Expression for CNPPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNPPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNPPD1

SOURCE GeneReport for Unigene cluster for CNPPD1 Gene:

Hs.4973

Evidence on tissue expression from TISSUES for CNPPD1 Gene

  • Kidney(4.4)
  • Intestine(4.3)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with CNPPD1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNPPD1 Gene

Orthologs for CNPPD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNPPD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CNPPD1 29 30
  • 98.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia cfa-mir-1840 30
  • 91 (a)
OneToOne
CNPPD1 29
  • 90.08 (n)
Cow
(Bos Taurus)
Mammalia C2H2ORF24 30
  • 90 (a)
OneToOne
CNPPD1 29
  • 89.43 (n)
Mouse
(Mus musculus)
Mammalia Cnppd1 29 16 30
  • 86.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cnppd1 29
  • 85.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia CNPPD1 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CNPPD1 29
  • 65.99 (n)
Lizard
(Anolis carolinensis)
Reptilia CNPPD1 30
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cnppd1 29
  • 57.78 (n)
MGC75999 29
Zebrafish
(Danio rerio)
Actinopterygii cnppd1 30
  • 45 (a)
OneToOne
wufa05h07 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG40191 30
  • 23 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F09G2.2 30
  • 21 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8044 30
  • 28 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.466 29
Species where no ortholog for CNPPD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for CNPPD1 Gene

ENSEMBL:
Gene Tree for CNPPD1 (if available)
TreeFam:
Gene Tree for CNPPD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNPPD1: view image
Alliance of Genome Resources:
Additional Orthologs for CNPPD1

Paralogs for CNPPD1 Gene

No data available for Paralogs for CNPPD1 Gene

Variants for CNPPD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNPPD1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1043160 -- p.Ile262Thr
rs1043161 -- p.Arg344Thr
rs1127102 -- p.Leu292Pro
rs17655123 -- p.Pro366Leu
rs4674361 -- p.Leu383Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNPPD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CNPPD1 Gene

Variant ID Type Subtype PubMed ID
esv3893555 CNV loss 25118596
nsv3170 CNV deletion 18451855
nsv508200 CNV deletion 20534489

Variation tolerance for CNPPD1 Gene

Residual Variation Intolerance Score: 70.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.51; 94.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNPPD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNPPD1
Leiden Open Variation Database (LOVD)
CNPPD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNPPD1 Gene

Disorders for CNPPD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNPPD1 Gene - From: COP

Disorder Aliases PubMed IDs
omodysplasia
  • omodysplasia type 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CNPPD1

genes like me logo Genes that share disorders with CNPPD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNPPD1 Gene

Publications for CNPPD1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4
  3. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3
  4. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CNPPD1 Gene

Sources for CNPPD1 Gene