Aliases for C16orf72 Gene

Aliases for C16orf72 Gene

  • Chromosome 16 Open Reading Frame 72 2 3 5
  • UPF0472 Protein C16orf72 3 4
  • PRO0149 2 3
  • C16orf72 5
  • FLJ41272 2

External Ids for C16orf72 Gene

Previous GeneCards Identifiers for C16orf72 Gene

  • GC16P009094
  • GC16P009185
  • GC16P009106
  • GC16P009092

Summaries for C16orf72 Gene

GeneCards Summary for C16orf72 Gene

C16orf72 (Chromosome 16 Open Reading Frame 72) is a Protein Coding gene. Diseases associated with C16orf72 include Thrombocytopenia-Absent Radius Syndrome. An important paralog of this gene is LOC389895.

Additional gene information for C16orf72 Gene

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 C16orf72 Gene

Genomics for C16orf72 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C16orf72 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 C16orf72 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C16orf72

Top Transcription factor binding sites by QIAGEN in the C16orf72 gene promoter:
  • ATF-2
  • c-Myb
  • CREB
  • deltaCREB
  • Hlf
  • Lmo2
  • NF-kappaB1
  • STAT1
  • STAT5B
  • XBP-1

Genomic Locations for C16orf72 Gene

Latest Assembly
30,259 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
29,992 bases
Plus strand

(GRCh37/hg19 by Ensembl)
29,993 bases
Plus strand

Genomic View for C16orf72 Gene

Genes around C16orf72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C16orf72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C16orf72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C16orf72 Gene

Proteins for C16orf72 Gene

  • Protein details for C16orf72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    UPF0472 protein C16orf72
    Protein Accession:

    Protein attributes for C16orf72 Gene

    275 amino acids
    Molecular mass:
    30926 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C16orf72 Gene

Post-translational modifications for C16orf72 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C16orf72 Gene

No data available for DME Specific Peptides for C16orf72 Gene

Domains & Families for C16orf72 Gene

Gene Families for C16orf72 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C16orf72 Gene


Suggested Antigen Peptide Sequences for C16orf72 Gene

GenScript: Design optimal peptide antigens:
  • UPF0472 protein C16orf72 (CP072_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0472 family.
  • Belongs to the UPF0472 family.
genes like me logo Genes that share domains with C16orf72: view

Function for C16orf72 Gene

Phenotypes From GWAS Catalog for C16orf72 Gene

Gene Ontology (GO) - Molecular Function for C16orf72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24722188
genes like me logo Genes that share ontologies with C16orf72: view
genes like me logo Genes that share phenotypes with C16orf72: view

miRNA for C16orf72 Gene

miRTarBase miRNAs that target C16orf72

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C16orf72

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C16orf72 Gene

Localization for C16orf72 Gene

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 C16orf72 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C16orf72 Gene

Pathways & Interactions for C16orf72 Gene

PathCards logo

SuperPathways for C16orf72 Gene

No Data Available

Interacting Proteins for C16orf72 Gene

Gene Ontology (GO) - Biological Process for C16orf72 Gene


No data available for Pathways by source and SIGNOR curated interactions for C16orf72 Gene

Drugs & Compounds for C16orf72 Gene

No Compound Related Data Available

Transcripts for C16orf72 Gene

mRNA/cDNA for C16orf72 Gene

11 NCBI additional mRNA sequence :
2 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 C16orf72

Alternative Splicing Database (ASD) splice patterns (SP) for C16orf72 Gene

No ASD Table

Relevant External Links for C16orf72 Gene

GeneLoc Exon Structure for

Expression for C16orf72 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C16orf72 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C16orf72 Gene

This gene is overexpressed in Whole Blood (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C16orf72

SOURCE GeneReport for Unigene cluster for C16orf72 Gene:


Evidence on tissue expression from TISSUES for C16orf72 Gene

  • Nervous system(3)
genes like me logo Genes that share expression patterns with C16orf72: view

Primer products for research

No data available for 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 C16orf72 Gene

Orthologs for C16orf72 Gene

This gene was present in the common ancestor of animals.

Orthologs for C16orf72 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia C25H16ORF72 31
  • 100 (a)
C25H16orf72 30
  • 97.7 (n)
(Pan troglodytes)
Mammalia C16H16orf72 30
  • 99.24 (n)
C16orf72 31
  • 99 (a)
(Mus musculus)
Mammalia 1810013L24Rik 30 17 31
  • 97.09 (n)
(Monodelphis domestica)
Mammalia C16orf72 31
  • 97 (a)
(Rattus norvegicus)
Mammalia RGD1309748 30
  • 96.24 (n)
(Ornithorhynchus anatinus)
Mammalia C16orf72 31
  • 95 (a)
(Canis familiaris)
Mammalia C16orf72 31
  • 83 (a)
(Gallus gallus)
Aves C16orf72 31
  • 94 (a)
LOC416639 30
  • 88.03 (n)
(Anolis carolinensis)
Reptilia C16orf72 31
  • 82 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c16orf72 30
  • 84.38 (n)
Str.5950 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68553 30
(Danio rerio)
Actinopterygii C3H16orf72 31
  • 83 (a)
zgc:77849 30
  • 75.63 (n)
wufb59e09 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3294 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4768 31
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11201 31
  • 44 (a)
Species where no ortholog for C16orf72 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 C16orf72 Gene

Gene Tree for C16orf72 (if available)
Gene Tree for C16orf72 (if available)

Paralogs for C16orf72 Gene

Paralogs for C16orf72 Gene Pseudogenes for C16orf72 Gene

genes like me logo Genes that share paralogs with C16orf72: view

Variants for C16orf72 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C16orf72 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs34869458 - p.Asn221Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C16orf72 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 C16orf72 Gene

Variant ID Type Subtype PubMed ID
dgv2725n100 CNV gain 25217958
dgv2726n100 CNV gain 25217958
esv3892788 CNV gain 25118596
nsv1040937 CNV gain 25217958
nsv1070322 CNV deletion 25765185
nsv457400 CNV gain 19166990
nsv457401 CNV gain 19166990
nsv457402 CNV gain 19166990
nsv519065 CNV gain 19592680
nsv525864 CNV loss 19592680
nsv571430 CNV gain 21841781
nsv571431 CNV gain 21841781
nsv571432 CNV gain 21841781
nsv952918 CNV duplication 24416366

Variation tolerance for C16orf72 Gene

Residual Variation Intolerance Score: 59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C16orf72 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C16orf72 Gene

Disorders for C16orf72 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C16orf72 Gene - From: COP

Disorder Aliases PubMed IDs
thrombocytopenia-absent radius syndrome
  • tar
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C16orf72

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C16orf72: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C16orf72 Gene

Publications for C16orf72 Gene

  1. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 2 3
  2. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. (PMID: 26760575) Uren PJ … Penalva LO (RNA biology 2016) 3

Products for C16orf72 Gene

Sources for C16orf72 Gene