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C17orf103 Gene

protein-coding   GIFtS: 38
GCID: GC17M021142

Chromosome 17 Open Reading Frame 103

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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 1031 2
Gene Trap Locus F3b1 2
Transcript Expressed During Hematopoiesis 21 2
Gtlf3b2
Protein GTLF3B2

External Ids:    HGNC: 307701   Entrez Gene: 2563022   Ensembl: ENSG000001540357   UniProtKB: Q8N6N63   

Export aliases for C17orf103 gene to outside databases

Previous GC identifers: GC17M021082 GC17M020344


(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 C17orf103 Gene:
C17orf103 (chromosome 17 open reading frame 103) 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  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C17orf103 gene promoter:
         CREB   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C17orf103

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf103


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

C17orf103 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf103 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M021142:  view genomic region     (about GC identifiers)

Start:
21,142,183 bp from pter      End:
21,156,722 bp from pter
Size:
14,540 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: GTL3B_HUMAN, Q8N6N6 (See protein sequence)
Recommended Name: Protein GTLF3B  
Size: 113 amino acids; 13032 Da
Secondary accessions: A8MWQ7 B3KX70

Explore the universe of human proteins at neXtProt for C17orf103: NX_Q8N6N6

Explore proteomics data for C17orf103 at MOPED


See C17orf103 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_690878.2  
ENSEMBL proteins: 
 ENSP00000457007   ENSP00000454565  

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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:
 IPR016181 Acyl_CoA_acyltransferase

Graphical View of Domain Structure for InterPro Entry Q8N6N6

ProtoNet protein and cluster: Q8N6N6

UniProtKB/Swiss-Prot: GTL3B_HUMAN, Q8N6N6
Similarity: Belongs to the GTLF3B family


Find genes that share domains with C17orf103           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:
     1 MGI phenotypic allele for Gm16515 (no phenotypes)

Find genes that share phenotypes with C17orf103           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C17orf103
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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
cytosol2
extracellular2
mitochondrion1
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 C17orf103
Interactions:

    Search GeneGlobe Interaction Network for C17orf103

1 Interacting protein for C17orf103 (Q8N6N63) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ADAMTSL4Q6UY143I2D: score=1 
About this table

(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 C17orf103 (GTL3B)



(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 C17orf103 gene: 
NM_152914.2  

Unigene Cluster for C17orf103:

Chromosome 17 open reading frame 103
Hs.654713  [show with all ESTs]
Unigene Representative Sequence: NM_152914
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000468196 ENST00000399011(uc010vzx.2)
miRNA
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hsa-miR-125a-5p hsa-miR-137 hsa-miR-520d-5p hsa-miR-657 hsa-miR-29c hsa-miR-29a hsa-miR-3921 hsa-miR-1297
Browse SwitchGear 3'UTR luciferase reporter plasmids
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Additional mRNA sequence: 

AK126856.1 BC029527.1 BC044645.1 CR749731.1 

3 DOTS entries:

DT.315483  DT.99985363  DT.75102504 

Selected AceView cDNA sequences (see all 288):

CR623488 W91883 BU732945 AA652446 BM824339 BG258157 BM708765 W35391 
BF115001 CR611577 AA702837 BC002819 CA423011 CK822359 F04782 CR606340 
BI828612 BM825743 BU542436 BI253680 CD369865 BG759276 BQ447545 BX646938 

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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C17orf103 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TACTCACACT
C17orf103 Expression
About this image


C17orf103 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
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         Stylopod Long Bone
 
 Brain (Nervous System)
         Meninges
 
 Placenta (Extraembryonic Tissues)
C17orf103 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C17orf103 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.654713
    Custom PCR Arrays for C17orf103
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf103

(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 C17orf103 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm165151 , 5 predicted gene, Gm165151, 5 90.91(n)1
94.55(a)1
  11 (37.93 cM)5
240831  NM_025294.51  NP_079570.11 
 609022465 
chicken
(Gallus gallus)
Aves C14H17ORF1031 chromosome 14 open reading frame, human C17orf103 84.24(n)
96.36(a)
  416497  NM_001030633.1  NP_001025804.1 
lizard
(Anolis carolinensis)
Reptilia C17orf1036
chromosome 17 open reading frame 103
94(a)
1 ↔ 1
GL343385.1(845885-847873)
African clawed frog
(Xenopus laevis)
Amphibia Xl.38772 Xenopus laevis transcribed sequence with moderate similarity more 77.44(n)    BJ074896.1 
zebrafish
(Danio rerio)
Actinopterygii zgc:1107791 zgc:110779 71.65(n)
75.7(a)
  100002945  NM_001013318.1  NP_001013336.1 


ENSEMBL Gene Tree for C17orf103 (if available)
TreeFam Gene Tree for C17orf103 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C17orf103 gene
1 SIMAP similar gene for C17orf103 using alignment to 2 protein entries:     H3BMV2_HUMAN (see all proteins):
GTLF3B

Find genes that share paralogs with C17orf103           About GenesLikeMe



(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 C17orf103 (see all 343)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs112783311,2
C--20357556(+) GGAAC-/ATTG  
 
/ATTGTG
TCGCC
1 -- int10--------
rs776666551,2
C,F--21141775(+) CCCCTG/ACATTA 1 -- ds50011Minor allele frequency- A:0.10WA 118
rs1498273021,2
--21141794(+) CTGAAA/GTGCCT 1 -- ds50010--------
rs126013001,2
C,F,A,H--21141892(+) GAAATT/CGGGGA 1 -- ds500125Minor allele frequency- C:0.45NA NS EA WA 2490
rs1458077721,2
C--21141926(+) TGGAAC/TGCAGT 1 -- ds50010--------
rs1423571361,2
C--21141946(+) CTGTC-/AAGAGG 1 -- ds50010--------
rs1490191011,2
--21142063(+) AGAGAA/CCAAAT 1 -- ds50010--------
rs1456373681,2
--21142073(+) TGGCTA/GCAGCC 1 -- ds50010--------
rs1856384911,2
--21142102(+) GCTGGA/CGAGAC 1 -- ds50010--------
rs1476757111,2
--21142168(+) ACAGAA/CAACCA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for C17orf103 (21142183 - 21156722 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for C17orf103:    About this table    
Variant IDTypeSubtypePubMed ID
nsv907886CNV Loss21882294
nsv907885CNV Gain21882294
nsv907887CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
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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 C17orf103           About GenesLikeMe

Genetic Association Database (GAD): C17orf103

Export disorders for C17orf103 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 C17orf103 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C17orf103)
    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. 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)
  3. 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)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 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: 256302 HGNC: 30770 AceView: C17orf35andMGC33894 Ensembl:ENSG00000154035 euGenes: HUgn256302
ECgene: C17orf103 H-InvDB: C17orf103

(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 C17orf103 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 C17orf103 gene:
Search GeneIP for patents involving C17orf103

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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 Browse ProSpec Recombinant Proteins
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 Browse ESI BIO Cell Lines and PureStem Progenitors for C17orf103
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for C17orf103
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C17orf103
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C17orf103
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C17orf103
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Customized transgenic rodents for:
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 Search Addgene for plasmids for C17orf103
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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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