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C17orf67 Gene

protein-coding   GIFtS: 36
GCID: GC17M054869

Chromosome 17 Open Reading Frame 67

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 17 Open Reading Frame 671 2
Uncharacterized Protein C17orf672

External Ids:    HGNC: 279001   Entrez Gene: 3392102   Ensembl: ENSG000002142267   UniProtKB: Q0P5P23   

Export aliases for C17orf67 gene to outside databases

Previous GC identifers: GC17M052225 GC17M050230


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C17orf67 Gene:
C17orf67 (chromosome 17 open reading frame 67) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C17orf67 gene promoter:
         RFX1   Pax-5   FOXO3   MIF-1   FOXO3b   HEN1   SRY   Pax-3   NRF-2   FOXO3a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C17orf67

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf67


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q23.2

C17orf67 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf67 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M054869:  view genomic region     (about GC identifiers)

Start:
54,869,274 bp from pter      End:
54,916,134 bp from pter
Size:
46,861 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CQ067_HUMAN, Q0P5P2 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf67 precursor  
Size: 114 amino acids; 13463 Da
Caution: It is uncertain whether Met-1 or Met-25 is the initiator
Sequence caution: Sequence=AAH93905.1; Type=Erroneous initiation; Sequence=AAH93907.1; Type=Erroneous initiation;

Explore the universe of human proteins at neXtProt for C17orf67: NX_Q0P5P2

Explore proteomics data for C17orf67 at MOPED


See C17orf67 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001078899.2  
ENSEMBL proteins: 
 ENSP00000380959   ENSP00000461483   ENSP00000380960  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR027870 DUF4543

Graphical View of Domain Structure for InterPro Entry Q0P5P2

ProtoNet protein and cluster: Q0P5P2


Find genes that share domains with C17orf67           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     2 GenomeRNAi human phenotypes for C17orf67:
 Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CQ067_HUMAN, Q0P5P2: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1
endoplasmic reticulum1
mitochondrion1
nucleus1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

Find genes that share ontologies with C17orf67           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C17orf67
Interactions:

    Search GeneGlobe Interaction Network for C17orf67

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C17orf67 (CQ067)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C17orf67 gene: 
NM_001085430.2  

Unigene Cluster for C17orf67:

Chromosome 17 open reading frame 67
Hs.658949  [show with all ESTs]
Unigene Representative Sequence: NM_001085430
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000570754 ENST00000397861(uc010dci.3 uc002iuq.3) ENST00000487705
ENST00000575658 ENST00000397862
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Additional mRNA sequence: 

BC041467.1 BC093905.1 BC093907.1 

5 DOTS entries:

DT.427773  DT.100019384  DT.95092470  DT.310317  DT.91726285 

17 AceView cDNA sequences:

BX415418 BE463822 AW300396 CA308560 CR612053 BQ230340 AI288950 AI205518 
BC041467 BI770408 BF592860 AI689580 AA627202 BI907789 H92155 BI772271 
BE173202 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C17orf67 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CACCACCTGC
C17orf67 Expression
About this image

C17orf67 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C17orf67 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.658949
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for C17orf67 gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm5251 predicted gene 525 84.93(n)
93.15(a)
  217071  NM_001033266.2  NP_001028438.1 
chicken
(Gallus gallus)
Aves C18H17ORF671 chromosome 18 open reading frame, human C17orf67 71.62(n)
70.27(a)
  417400  NM_001278023.1  NP_001264952.1 
lizard
(Anolis carolinensis)
Reptilia C17orf676
chromosome 17 open reading frame 67
72(a)
1 ↔ 1
GL343198.1(584797-590356)
tropical clawed frog
(Xenopus tropicalis)
Amphibia c17orf671 chromosome 17 open reading frame 67 67.41(n)
60(a)
  100127729  NM_001113068.1  NP_001106539.1 
zebrafish
(Danio rerio)
Actinopterygii C6H17orf676
chromosome 17 open reading frame 67
53(a)
1 ↔ 1
6(19544053-19546344) ENSDARG00000089625


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C17orf67 (see all 848)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs72095991,2
C,F,A,H--54868990(+) CAAGGT/CGGGTG 1 -- int16Minor allele frequency- C:0.17NA WA 12
rs1501936811,2
C--54869049(+) ACCCCA/GTCTCT 1 -- int10--------
rs1389227461,2
--54869094(+) GTGCAC/TCTGTA 1 -- int10--------
rs1407255551,2
C--54869152(+) GAGGCA/GGAGGT 1 -- int10--------
rs1923726461,2
--54869191(+) CTCCAA/GACTGA 1 -- int10--------
rs1822709431,2
--54869273(+) TAAAAA/GTAAAT 1 -- spd10--------
rs562682001,2
--54869422(+) TCCTGA/GTCTGG 1 -- ut310--------
rs733230511,2
C,F--54869453(+) CCAGGT/AAAGAT 1 -- ut312Minor allele frequency- A:0.11WA 120
rs178224031,2
C,F,H--54869473(+) TCCCAC/TTCTTG 1 -- ut3120Minor allele frequency- T:0.12NA NS EA WA 2482
rs733230521,2
C,F--54869495(+) GAAGAC/ACTTTG 1 -- ut313Minor allele frequency- A:0.15WA 122

HapMap Linkage Disequilibrium report for C17orf67 (54869274 - 54916134 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for C17orf67:    About this table    
Variant IDTypeSubtypePubMed ID
esv2633698CNV Deletion19546169
esv1366533CNV Insertion17803354
nsv833495CNV Loss17160897
esv32884CNV Loss17666407
nsv908632CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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Find genes that share disorders with C17orf67           About GenesLikeMe

Human Genome Epidemiology (HuGE) Navigator: C17orf67 (1 document)

Export disorders for C17orf67 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for C17orf67 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C17orf67)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  2. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1 Sovio U....Jarvelin M.R. (PLoS Genet. 2009)
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 339210 HGNC: 27900 AceView: LOC339210 Ensembl:ENSG00000214226 euGenes: HUgn339210
ECgene: C17orf67 H-InvDB: C17orf67

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C17orf67 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C17orf67 gene:
Search GeneIP for patents involving C17orf67

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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