Aliases for C17orf67 Gene

Aliases for C17orf67 Gene

  • Chromosome 17 Open Reading Frame 67 2 3 5
  • Uncharacterized Protein C17orf67 3 4
  • C17orf67 5

External Ids for C17orf67 Gene

Previous GeneCards Identifiers for C17orf67 Gene

  • GC17M052225
  • GC17M054869
  • GC17M050230

Summaries for C17orf67 Gene

GeneCards Summary for C17orf67 Gene

C17orf67 (Chromosome 17 Open Reading Frame 67) is a Protein Coding gene. Diseases associated with C17orf67 include Scheuermann Disease and Proximal Symphalangism.

Additional gene information for C17orf67 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 C17orf67 Gene

Genomics for C17orf67 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C17orf67 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
GH17J056832 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.4 +4.2 4172 4.8 GATAD2A YBX1 PRDM10 TFE3 IKZF1 ZNF692 POLR2A ZNF174 BACH1 TARDBP DGKE C17orf67 piR-48487 lnc-C17orf67-4 TRIM25
GH17J056821 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.4 +17.2 17164 0.1 C17orf67 DGKE piR-48487 ENSG00000283209 NOG
GH17J056784 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.1 +51.2 51200 5.7 GATAD2A PRDM10 LEF1 JUND FOXA1 IKZF2 HDAC1 GABPA CEBPA ATF7 C17orf67 NOG TRIM25 SCPEP1 piR-38051-128 lnc-C17orf67-3 DGKE
GH17J056793 Enhancer 0.9 Ensembl ENCODE 17.9 +44.3 44277 3 CREB1 ZBTB44 CEBPB OSR2 ZNF580 RCOR1 ZNF662 MAX EP300 RFX5 lnc-C17orf67-3 C17orf67 ENSG00000262298 piR-38051-128 DGKE NOG
GH17J056808 Enhancer 0.8 ENCODE dbSUPER 17.1 +30.0 30012 1.5 FOXA1 NFE2 GABPA ZBTB11 ZFHX2 GATA3 ZNF213 ZC3H11A FEZF1 ZNF664 C17orf67 DGKE RNU6-1158P ENSG00000283209 piR-48487 NOG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C17orf67 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C17orf67

Top Transcription factor binding sites by QIAGEN in the C17orf67 gene promoter:
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HEN1
  • MIF-1
  • NRF-2
  • Pax-3
  • Pax-5
  • RFX1
  • SRY

Genomic Locations for C17orf67 Gene

Genomic Locations for C17orf67 Gene
chr17:56,791,913-56,838,773
(GRCh38/hg38)
Size:
46,861 bases
Orientation:
Minus strand
chr17:54,869,274-54,916,134
(GRCh37/hg19)
Size:
46,861 bases
Orientation:
Minus strand

Genomic View for C17orf67 Gene

Genes around C17orf67 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf67 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf67 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf67 Gene

Proteins for C17orf67 Gene

  • Protein details for C17orf67 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0P5P2-CQ067_HUMAN
    Recommended name:
    Uncharacterized protein C17orf67
    Protein Accession:
    Q0P5P2

    Protein attributes for C17orf67 Gene

    Size:
    90 amino acids
    Molecular mass:
    10670 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C17orf67 Gene

Post-translational modifications for C17orf67 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C17orf67 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C17orf67 Gene

Domains & Families for C17orf67 Gene

Gene Families for C17orf67 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C17orf67 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C17orf67: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C17orf67 Gene

Function for C17orf67 Gene

Phenotypes From GWAS Catalog for C17orf67 Gene

Gene Ontology (GO) - Molecular Function for C17orf67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C17orf67: view
genes like me logo Genes that share phenotypes with C17orf67: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C17orf67

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C17orf67 Gene

Localization for C17orf67 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C17orf67 Gene

Secreted.

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 C17orf67 gene
Compartment Confidence
extracellular 3
plasma membrane 1
mitochondrion 1
cytosol 1
nucleus 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for C17orf67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C17orf67: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C17orf67 Gene

Pathways & Interactions for C17orf67 Gene

PathCards logo

SuperPathways for C17orf67 Gene

No Data Available

Interacting Proteins for C17orf67 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q0P5P2-CQ067_HUMAN ENSP00000380959 for C17orf67 Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for C17orf67 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C17orf67 Gene

Drugs & Compounds for C17orf67 Gene

No Compound Related Data Available

Transcripts for C17orf67 Gene

mRNA/cDNA for C17orf67 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C17orf67

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf67 Gene

No ASD Table

Relevant External Links for C17orf67 Gene

GeneLoc Exon Structure for
C17orf67

Expression for C17orf67 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C17orf67 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C17orf67

SOURCE GeneReport for Unigene cluster for C17orf67 Gene:

Hs.658949

Evidence on tissue expression from TISSUES for C17orf67 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with C17orf67: view

Primer Products

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 C17orf67 Gene

Orthologs for C17orf67 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C17orf67 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C17H17orf67 30
  • 98.52 (n)
C17ORF67 31
  • 76 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm525 30 17 31
  • 84.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C9H17orf67 30
  • 84.68 (n)
C17orf67 31
  • 70 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C19H17orf67 30
  • 82.59 (n)
C17orf67 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C18H17ORF67 30 31
  • 71.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C17orf67 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c17orf67 30
  • 67.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii C6H17orf67 31
  • 53 (a)
OneToOne
Species where no ortholog for C17orf67 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 C17orf67 Gene

ENSEMBL:
Gene Tree for C17orf67 (if available)
TreeFam:
Gene Tree for C17orf67 (if available)

Paralogs for C17orf67 Gene

No data available for Paralogs for C17orf67 Gene

Variants for C17orf67 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C17orf67 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs775112986 Uncertain Significance: not specified 56,814,916(-) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for C17orf67 Gene

Structural Variations from Database of Genomic Variants (DGV) for C17orf67 Gene

Variant ID Type Subtype PubMed ID
dgv954e212 CNV loss 25503493
esv1366533 CNV insertion 17803354
esv2633698 CNV deletion 19546169
esv2657521 CNV deletion 23128226
esv32884 CNV loss 17666407
esv3640858 CNV loss 21293372
nsv833495 CNV loss 17160897
nsv962344 CNV duplication 23825009

Variation tolerance for C17orf67 Gene

Gene Damage Index Score: 1.18; 23.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C17orf67 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C17orf67

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf67 Gene

Disorders for C17orf67 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C17orf67 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
scheuermann disease
  • scheuermann juvenile kyphosis
proximal symphalangism
  • symphalangism, proximal, 1a
scoliosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C17orf67

genes like me logo Genes that share disorders with C17orf67: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C17orf67 Gene

Publications for C17orf67 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  2. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M … Qi L (Human molecular genetics 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  4. Association between genetic determinants of peak height velocity during puberty and predisposition to adolescent idiopathic scoliosis. (PMID: 23354108) Mao S … Qiu Y (Spine 2013) 3
  5. Molecular and clinical delineation of the 17q22 microdeletion phenotype. (PMID: 23361222) Laurell T … Nordgren A (European journal of human genetics : EJHG 2013) 3

Products for C17orf67 Gene

  • Signalway Proteins for C17orf67

Sources for C17orf67 Gene