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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C17orf72 Gene

protein-coding   GIFtS: 29
GCID: GC17P062075

Chromosome 17 Open Reading Frame 72

  Search for C17orf72
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 17 Open Reading Frame 721 2
Uncharacterized Protein C17orf722

External Ids:    HGNC: 256731   Entrez Gene: 923402   Ensembl: ENSG000002243837   UniProtKB: P0C7W03   

Export aliases for C17orf72 gene to outside databases

Previous GC identifers: GC17U900605 GC17P059430 GC17P057443


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C17orf72 Gene: 
C17orf72 (chromosome 17 open reading frame 72) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C17orf72 gene promoter:
         AREB6   c-Rel   AML1a   p53   Hand1   AP-4   MRF-2   RSRFC4   E47   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C17orf72

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf72


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

Entrez Gene cytogenetic band: 17q23.3   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23.3

C17orf72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf72 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P062075:  view genomic region     (about GC identifiers)

Start:
62,075,711 bp from pter      End:
62,081,664 bp from pter
Size:
5,954 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CQ072_HUMAN, P0C7W0 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf72  
Size: 189 amino acids; 20715 Da
Secondary accessions: B3KMP0 B4DZJ9 B4E2F8 E9PGL5 J3QKX4
Alternative splicing: 4 isoforms:  P0C7W0-1   P0C7W0-2   P0C7W0-3   P0C7W0-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C17orf72: NX_P0C7W0

Explore proteomics data for C17orf72 at MOPED 

C17orf72 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C17orf72 Protein Expression

REFSEQ proteins (4 alternative transcripts): 
NP_001157729.1  NP_001177958.1  NP_001177959.1  NP_001177960.1  

ENSEMBL proteins: 
 ENSP00000463279   ENSP00000464103   ENSP00000462097   ENSP00000396936   ENSP00000400986  
 ENSP00000462130   ENSP00000461973   ENSP00000437876  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: P0C7W0


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C17orf72

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C17orf72 (CQ072)

Search CenterWatch for drugs/clinical trials and news about C17orf72 / CQ072

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C17orf72 gene (4 alternative transcripts): 
NM_001164257.1  NM_001191029.1  NM_001191030.1  NM_001191031.1  

Unigene Cluster for C17orf72:

Chromosome 17 open reading frame 72
Hs.708161  [show with all ESTs]
Unigene Representative Sequence: AK021786
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000577953 ENST00000582540 ENST00000579184 ENST00000425164 ENST00000412177(uc010wpv.2 uc002jdt.4 uc021ubo.1 uc010wpw.2 uc010wpu.2)
ENST00000583891 ENST00000580752 ENST00000582530 ENST00000225760 ENST00000579222
ENST00000539996
miRNA
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Additional mRNA sequence: 

AK021786.1 AK294360.1 AK302960.1 AK304254.1 BC030709.1 BC045676.1 

11 DOTS entries:

DT.100775196  DT.455933  DT.101984915  DT.91787627  DT.40271377  DT.121002751  DT.99933901  DT.80101169 
DT.95249996  DT.97775460  DT.97846486 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C17orf72 expression in normal human tissues (normalized intensities)      C17orf72 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGGTTTCCG
C17orf72 Expression
About this image


C17orf72 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/2 selected tissues (see all 2) fully expand
 
 Pancreas (Endocrine System)
         Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
 
 Epithelium (Respiratory System)
         airway epithelial cells   

See C17orf72 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C17orf72

SOURCE GeneReport for Unigene cluster: Hs.708161
    SABiosciences Custom PCR Arrays for C17orf72
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf72

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C17orf72 gene from 1/5 species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
lizard
(Anolis carolinensis)
Reptilia C17ORF726
Uncharacterized protein
33(a)
1 ↔ 1
6(71758266-71779970)
        Species with no ortholog for C17orf72

ENSEMBL Gene Tree for C17orf72 (if available)
TreeFam Gene Tree for C17orf72 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/125 SNPs in C17orf72 are shown (see all 125)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1425158851,2
C--62073792(+) TTTCAC/TATCAA 4 -- us2k10--------
rs1824489781,2
--62073807(+) GATATC/TCTATT 4 -- us2k10--------
rs1858904611,2
--62073860(+) CATCCC/TCATCA 4 -- us2k10--------
rs1447774621,2
--62073864(+) CCCATC/TAGACA 4 -- us2k10--------
rs1143373951,2
F--62073908(+) CACCCT/CGTTTC 4 -- us2k11Minor allele frequency- C:0.02WA 118
rs1911374621,2
--62073913(+) TGTTTC/GCCAGG 4 -- us2k10--------
rs1387759161,2
--62073967(+) CCCTGA/GGCTTG 4 -- us2k10--------
rs1811854991,2
--62074023(+) ACAAGC/GCACCG 4 -- us2k10--------
rs1386022821,2
C--62074041(+) CCCCC-/TATCAG 4 -- us2k10--------
rs1856255231,2
--62074252(+) CCAGCC/TCCTCT 4 -- us2k10--------

HapMap Linkage Disequilibrium report for C17orf72 (62075711 - 62081664 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C17orf72:    About this table     
Variant IDTypeSubtypePubMed ID
nsv908684CNV Loss21882294
nsv908685CNV Loss21882294
nsv833511CNV Loss17160897
nsv517272CNV Gain+Loss19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
  --

(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)
About This Section

PubMed articles for C17orf72 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C17orf72)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  2. 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. (2002)
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 92340 HGNC: 25673 Ensembl:ENSG00000224383 euGenes: HUgn92340 ECgene: C17orf72
H-InvDB: C17orf72

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for C17orf72 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C17orf72 gene:
Search GeneIP for patents involving C17orf72

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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