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Aliases for C16orf62 Gene

Aliases for C16orf62 Gene

  • Chromosome 16 Open Reading Frame 62 2 3 5
  • Esophageal Cancer-Associated Protein 4

External Ids for C16orf62 Gene

Previous GeneCards Identifiers for C16orf62 Gene

  • GC16P019475
  • GC16P019476
  • GC16P018103

Summaries for C16orf62 Gene

GeneCards Summary for C16orf62 Gene

C16orf62 (Chromosome 16 Open Reading Frame 62) is a Protein Coding gene. Among its related pathways are Innate Immune System.

UniProtKB/Swiss-Prot for C16orf62 Gene

  • Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability (PubMed:25355947).

Additional gene information for C16orf62 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C16orf62 Gene

Genomics for C16orf62 Gene

Regulatory Elements for C16orf62 Gene

Enhancers for C16orf62 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
GH16H019637 0.7 ENCODE dbSUPER 29.4 +83.8 83778 2 HDAC1 SCRT2 FOS KNOP1 C16orf62 IQCK GC16M019688 GC16M019687
GH16H019695 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +143.2 143248 6 HDAC1 FOXA2 NFIB ARID4B FEZF1 ZNF2 RARA SCRT2 FOS RCOR1 KNOP1 C16orf62 ENSG00000276571 GC16M019702
GH16H019657 0.6 dbSUPER 28.3 +104.7 104715 5 CTCF SOX13 FOXA2 HLF RAD21 HHEX NR2F6 BCL6 MIXL1 C16orf62 IQCK KNOP1 GC16M019688 GC16M019687
GH16H019644 0.9 ENCODE dbSUPER 18.2 +90.4 90441 1 PKNOX1 MAZ TSHZ1 ZNF398 ZIC2 ZNF843 ATF2 OSR2 PRDM6 ZNF366 C16orf62 IQCK KNOP1 GC16M019688 GC16M019687
GH16H019881 1.4 FANTOM5 ENCODE dbSUPER 10.8 +328.6 328599 3 CTCF MXI1 ZNF777 RB1 ZNF792 SIN3A ZIC2 ETS1 GLIS2 POLR2A THUMPD1 GPRC5B C16orf62 KNOP1 CCP110 LARP7P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C16orf62 on UCSC Golden Path with GeneCards custom track

Promoters for C16orf62 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084180 527 1601 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF302

Genomic Location for C16orf62 Gene

Chromosome:
16
Start:
19,555,073 bp from pter
End:
19,706,793 bp from pter
Size:
151,721 bases
Orientation:
Plus strand

Genomic View for C16orf62 Gene

Genes around C16orf62 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C16orf62 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C16orf62 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C16orf62 Gene

Proteins for C16orf62 Gene

  • Protein details for C16orf62 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3J2-CP062_HUMAN
    Recommended name:
    UPF0505 protein C16orf62
    Protein Accession:
    Q7Z3J2
    Secondary Accessions:
    • A8K2M1
    • O43329
    • Q69YI1
    • Q6PDA0
    • Q7L371
    • Q86W66
    • Q8WXA5
    • Q9H0L7
    • Q9H7C8

    Protein attributes for C16orf62 Gene

    Size:
    963 amino acids
    Molecular mass:
    109563 Da
    Quaternary structure:
    • Interacts with COMMD1, CCDC93 and CCDC22; proposed to be a component of the CCC (COMMD/CCDC22/CCDC93) complex which contains at least COMMD1 (and possibly other COMM domain-containing proteins), CCDC22, CCDC93 and C16orf62. Interacts with WASHC1 and WASHC2C (PubMed:25355947).
    SequenceCaution:
    • Sequence=AAH14900.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD97869.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for C16orf62 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C16orf62 Gene

Post-translational modifications for C16orf62 Gene

  • Ubiquitination at Lys933
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C16orf62 Gene

Domains & Families for C16orf62 Gene

Gene Families for C16orf62 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for C16orf62 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C16orf62 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z3J2

UniProtKB/Swiss-Prot:

CP062_HUMAN :
  • Belongs to the UPF0505 family.
Family:
  • Belongs to the UPF0505 family.
genes like me logo Genes that share domains with C16orf62: view

Function for C16orf62 Gene

Molecular function for C16orf62 Gene

UniProtKB/Swiss-Prot Function:
Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability (PubMed:25355947).

Phenotypes From GWAS Catalog for C16orf62 Gene

Gene Ontology (GO) - Molecular Function for C16orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25355947
genes like me logo Genes that share ontologies with C16orf62: view
genes like me logo Genes that share phenotypes with C16orf62: view

Animal Model Products

CRISPR Products

miRNA for C16orf62 Gene

miRTarBase miRNAs that target C16orf62

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C16orf62
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C16orf62 Gene

Localization for C16orf62 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C16orf62 Gene

Membrane; Single-pass membrane protein. Early endosome.

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 C16orf62 gene
Compartment Confidence
plasma membrane 5
endosome 4
mitochondrion 2
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C16orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C16orf62: view

Pathways & Interactions for C16orf62 Gene

genes like me logo Genes that share pathways with C16orf62: view

Pathways by source for C16orf62 Gene

3 Reactome pathways for C16orf62 Gene

Gene Ontology (GO) - Biological Process for C16orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006893 Golgi to plasma membrane transport IMP 25355947
GO:0015031 protein transport IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with C16orf62: view

No data available for SIGNOR curated interactions for C16orf62 Gene

Drugs & Compounds for C16orf62 Gene

No Compound Related Data Available

Transcripts for C16orf62 Gene

Unigene Clusters for C16orf62 Gene

Chromosome 16 open reading frame 62:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C16orf62
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C16orf62 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - -
SP2: - - - - - - -
SP3: -
SP4:
SP5: -
SP6:
SP7:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for C16orf62 Gene

GeneLoc Exon Structure for
C16orf62
ECgene alternative splicing isoforms for
C16orf62

Expression for C16orf62 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C16orf62 Gene

Protein differential expression in normal tissues from HIPED for C16orf62 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C16orf62 Gene



Protein tissue co-expression partners for C16orf62 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C16orf62 Gene:

C16orf62

SOURCE GeneReport for Unigene cluster for C16orf62 Gene:

Hs.654964

Evidence on tissue expression from TISSUES for C16orf62 Gene

  • Nervous system(4.4)
  • Heart(4.2)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with C16orf62: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C16orf62 Gene

Orthologs for C16orf62 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for C16orf62 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C16orf62 34
  • 99 (a)
OneToOne
C16H16orf62 33
  • 98.93 (n)
cow
(Bos Taurus)
Mammalia C16orf62 34
  • 97 (a)
OneToOne
C25H16orf62 33
  • 91.87 (n)
dog
(Canis familiaris)
Mammalia C16orf62 34
  • 96 (a)
OneToOne
C6H16orf62 33
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia C16orf62 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC361635 33
  • 87.57 (n)
mouse
(Mus musculus)
Mammalia 9030624J02Rik 33 16 34
  • 86.23 (n)
chicken
(Gallus gallus)
Aves C16orf62 34
  • 84 (a)
OneToOne
C14H16ORF62 33
  • 76.22 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c16orf62 33
  • 73.63 (n)
Str.16226 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19623 33
zebrafish
(Danio rerio)
Actinopterygii C12H16orf62 34
  • 74 (a)
OneToOne
zgc:163107 33
  • 68.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12356 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001150 33
  • 53.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8202 33 34
  • 52.42 (n)
worm
(Caenorhabditis elegans)
Secernentea F26G1.1 34
  • 19 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G50730 33
  • 43.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for C16orf62 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for C16orf62 Gene

ENSEMBL:
Gene Tree for C16orf62 (if available)
TreeFam:
Gene Tree for C16orf62 (if available)

Paralogs for C16orf62 Gene

No data available for Paralogs for C16orf62 Gene

Variants for C16orf62 Gene

Sequence variations from dbSNP and Humsavar for C16orf62 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000011122 -- 19,659,053(+) ATAGG(G/T)TTGTA intron-variant
rs1000013531 -- 19,677,351(+) GTGCT(A/G)GAATT intron-variant
rs1000055861 -- 19,662,252(+) GTAAT(A/C)CTAGC intron-variant
rs1000068965 -- 19,634,744(+) TTGCA(C/T)GCATT intron-variant
rs1000087345 -- 19,570,924(+) CGGGC(C/T)GGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C16orf62 Gene

Variant ID Type Subtype PubMed ID
esv3435869 CNV insertion 20981092
nsv1040490 CNV gain 25217958
nsv1123016 CNV deletion 24896259
nsv1160369 CNV duplication 26073780
nsv1756 CNV insertion 18451855
nsv436835 CNV insertion 17901297
nsv520441 CNV loss 19592680
nsv571582 CNV gain 21841781
nsv571583 CNV loss 21841781
nsv833163 CNV gain 17160897

Variation tolerance for C16orf62 Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C16orf62 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C16orf62

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C16orf62 Gene

Disorders for C16orf62 Gene

Relevant External Links for C16orf62

Genetic Association Database (GAD)
C16orf62
Human Genome Epidemiology (HuGE) Navigator
C16orf62
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C16orf62

No disorders were found for C16orf62 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C16orf62 Gene

Publications for C16orf62 Gene

  1. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak CA … Burstein E (Molecular biology of the cell 2015) 2 3 4 60
  2. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 2 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. (PMID: 20532202) Naukkarinen J … ENGAGE Consortium (PLoS genetics 2010) 3 45 60

Products for C16orf62 Gene

Sources for C16orf62 Gene

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