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C7orf63 Gene

protein-coding   GIFtS: 40
GCID: GC07P089874

Chromosome 7 Open Reading Frame 63

  Search for C7orf63
at  

(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 7 Open Reading Frame 631 2
Flagellar Protein 69 Homolog (Chlamydomonas)1
Hypothetical Protein FLJ210621
Uncharacterized Protein C7orf632

External Ids:    HGNC: 261071   Entrez Gene: 798462   Ensembl: ENSG000001057927   UniProtKB: A5D8W13   

Export aliases for C7orf63 gene to outside databases

Previous GC identifers: GC07P089713 GC07P084484


(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 C7orf63 Gene:
C7orf63 (chromosome 7 open reading frame 63) 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_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C7orf63 gene promoter:
         TBP   HFH-3   HNF-3beta   Gfi-1   FOXI1   MEF-2A   SRY   aMEF-2   ZID   TGIF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C7orf63

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C7orf63


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

Entrez Gene cytogenetic band: 7q21.13   Ensembl cytogenetic band:  7q21.13   HGNC cytogenetic band: 7q21.13

C7orf63 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf63 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P089874:  view genomic region     (about GC identifiers)

Start:
89,874,488 bp from pter      End:
89,940,377 bp from pter
Size:
65,890 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 89,205,264-89,271,137     

(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: CG063_HUMAN, A5D8W1 (See protein sequence)
Recommended Name: Uncharacterized protein C7orf63  
Size: 941 amino acids; 105883 Da
Sequence caution: Sequence=BAB14972.1; Type=Erroneous initiation;
Secondary accessions: A3KMP9 B4DYW6 B4DZP7 B9EIM7 Q6V705 Q8IY89 Q9H7C2
Alternative splicing: 5 isoforms:  A5D8W1-1   A5D8W1-2   A5D8W1-3   A5D8W1-4   A5D8W1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C7orf63: NX_A5D8W1

Explore proteomics data for C7orf63 at MOPED


See C7orf63 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001034795.2  NP_001153610.1  

ENSEMBL proteins: 
 ENSP00000373948   ENSP00000411143   ENSP00000411234   ENSP00000419549   ENSP00000392365  
 ENSP00000393339   ENSP00000391571   ENSP00000415818   ENSP00000414772   ENSP00000321753  

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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:
 IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry A5D8W1

ProtoNet protein and cluster: A5D8W1


Find genes that share domains with C7orf63           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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005488binding ----
     
Find genes that share ontologies with C7orf63           About GenesLikeMe


Phenotypes:
     1 MGI phenotypic allele for A330021E22Rik (no phenotypes)

Find genes that share phenotypes with C7orf63           About GenesLikeMe

Animal Models:
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miRNA
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4 qRT-PCR Assays for microRNAs that regulate C7orf63:
hsa-miR-142-5p hsa-miR-149 hsa-miR-548c-3p hsa-miR-340
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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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 COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
cytosol1
nucleus1

(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 C7orf63
Interactions:

    Search GeneGlobe Interaction Network for C7orf63

(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 C7orf63 (CG063)



(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 C7orf63 gene (3 alternative transcripts): 
NM_024788.2  NM_001039706.2  NM_001160138.1  

Unigene Cluster for C7orf63:

Chromosome 7 open reading frame 63
Hs.657403  [show with all ESTs]
Unigene Representative Sequence: NM_001039706
14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000389297(uc003ukg.2 uc011khj.2 uc010lep.3 uc011khk.2)
ENST00000485791 ENST00000427396 ENST00000451029(uc003ukf.2) ENST00000497910
ENST00000463311 ENST00000457170 ENST00000418199 ENST00000475031 ENST00000449577
ENST00000491886 ENST00000412839 ENST00000445156 ENST00000316089(uc010leo.2)

miRNA
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4 qRT-PCR Assays for microRNAs that regulate C7orf63:
hsa-miR-142-5p hsa-miR-149 hsa-miR-548c-3p hsa-miR-340
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat C7orf63

Additional mRNA sequence: 

AK024715.1 AK093991.1 AK302636.1 AK303034.1 AY349356.1 BC036351.1 BC132771.1 BC140742.1 
BC141834.1 BC142655.1 

11 DOTS entries:

DT.75100839  DT.430482  DT.100021230  DT.100751143  DT.121046720  DT.437324  DT.100642433  DT.100673533 
DT.87015101  DT.97795876  DT.100021231 

Selected AceView cDNA sequences (see all 61):

AI697506 AI251801 BC036613 AA633464 AI435058 BE219137 BE046313 AI491957 
AA028171 AW008475 BC036351 AA372120 NM_024788 AW276034 BQ890708 BF112239 
BU676209 AI860796 AY349356 BU627350 W86347 AK093991 AI655088 AI690091 

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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C7orf63 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGCCAAATGG
C7orf63 Expression
About this image


C7orf63 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Adipose (Muscoskeletal System)
         Mesenchymal Stem Cells Subcutaneous White Adipose
 
 Mesenchymal Stem Cells
         Mesenchymal Stem Cells Subcutaneous White Adipose
 
 Brain (Nervous System)
         Choroid Plexus
C7orf63 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C7orf63 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.657403
    Custom PCR Arrays for C7orf63
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf63

(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 C7orf63 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia A330021E22Rik1 , 5 RIKEN cDNA A330021E22 gene1, 5 84.7(n)1
83.95(a)1
  5 (3.07 cM)5
2076861  NM_172447.21  NP_766035.11 
 55792785 
chicken
(Gallus gallus)
Aves C2H7ORF631 chromosome 2 open reading frame, human C7orf63 67.94(n)
58.82(a)
  420542  XM_004939276.1  XP_004939333.1 
lizard
(Anolis carolinensis)
Reptilia C7orf636
chromosome 7 open reading frame 63
62(a)
1 ↔ 1
6(20335968-20363960)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004945091 chromosome unknown open reading frame, human C7orf63 64.72(n)
59.53(a)
  100494509  XM_002939008.2  XP_002939054.2 


ENSEMBL Gene Tree for C7orf63 (if available)
TreeFam Gene Tree for C7orf63 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C7orf63 gene

Find genes that share paralogs with C7orf63           About GenesLikeMe


2 Pseudogenes.org Pseudogenes for C7orf63
PGOHUM00000248898 PGOHUM00000244420


(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 C7orf63 (see all 1425)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1878878951,2
--89872704(+) GAGTTA/CGAGTT 2 -- us2k10--------
rs1405124081,2
C--89872830(+) GGCAAC/TAACAT 2 -- us2k10--------
rs1931753451,2
C--89872960(+) GTCAAA/CAGGCA 2 -- us2k10--------
rs1850277241,2
--89873055(+) TGTGAA/GTCTTC 2 -- us2k10--------
rs1893531691,2
--89873146(+) ATTACA/CGTCCC 2 -- us2k10--------
rs1126652211,2
C,F--89873432(+) ACAAAA/GGTTAT 2 -- us2k12Minor allele frequency- G:0.33CSA 3
rs69551231,2
C,F,A,H--89873469(+) aactcT/Ctgcct 2 -- us2k19Minor allele frequency- C:0.35NS EA WA CSA 660
rs1503982091,2
C--89873569(+) TCAGTC/TGTTGA 2 -- us2k10--------
rs1846852551,2
--89873615(+) GTGGCA/TTGTGC 2 -- us2k10--------
rs178696721,2
H--89873616(+) TGGCAT/GGTGCA 2 -- us2k14Minor allele frequency- G:0.00NS EA 416

HapMap Linkage Disequilibrium report for C7orf63 (89874488 - 89940377 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for C7orf63 (see all 12):    About this table    
Variant IDTypeSubtypePubMed ID
esv2734807CNV Deletion23290073
esv2734808CNV Deletion23290073
esv2734809CNV Deletion23290073
nsv507403CNV Insertion20534489
esv1004083CNV Insertion20482838
esv24241CNV Loss19812545
nsv888725CNV Loss21882294
esv32582CNV Gain17666407
nsv464626CNV Gain19166990
nsv888709CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C7orf63
DNA2.0 Custom Variant and Variant Library Synthesis for C7orf63

(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 C7orf63           About GenesLikeMe

Genetic Association Database (GAD): C7orf63
Human Genome Epidemiology (HuGE) Navigator: C7orf63 (1 document)

Export disorders for C7orf63 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 C7orf63 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C7orf63)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. 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)
  4. DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status. (PubMed id 18288132)1 Pike B.L....Hacia J.G. (Leukemia 2008)
  5. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  6. 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)
  7. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
  8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
  9. (PubMed id )2 

(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: 79846 HGNC: 26107 AceView: FLJ21062 Ensembl:ENSG00000105792 euGenes: HUgn79846
ECgene: C7orf63 H-InvDB: C7orf63

(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 C7orf63 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 C7orf63 gene:
Search GeneIP for patents involving C7orf63

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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 Search Tocris compounds for C7orf63 (CG063)
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 Search Addgene for plasmids for C7orf63
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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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