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C16orf52 Gene

protein-coding   GIFtS: 31
GCID: GC16P022021

Chromosome 16 Open Reading Frame 52

  Search for C16orf52
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 16 Open Reading Frame 521 2
Uncharacterized Protein C16orf522

External Ids:    HGNC: 270871   Entrez Gene: 7300942   Ensembl: ENSG000001857167   UniProtKB: Q8NHV53   

Export aliases for C16orf52 gene to outside databases

Previous GC identifers: GC16P021928 GC16U900642 GC16P020264


(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 C16orf52 Gene:
C16orf52 (chromosome 16 open reading frame 52) 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:
NC_000016.10  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C16orf52 gene promoter:
         AREB6   Hand1   Chx10   AP-2beta   Nkx2-5   AP-2gamma   AP-2alpha   E47   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C16orf52

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C16orf52


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

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.2

C16orf52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C16orf52 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P022021:  view genomic region     (about GC identifiers)

Start:
22,018,959 bp from pter      End:
22,098,855 bp from pter
Size:
79,897 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C16orf52

(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: CP052_HUMAN, Q8NHV5 (See protein sequence)
Recommended Name: Uncharacterized protein C16orf52  
Size: 114 amino acids; 12543 Da
Alternative splicing: 2 isoforms:  Q8NHV5-1   Q8NHV5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C16orf52: NX_Q8NHV5

REFSEQ proteins: NP_001158051.1  
ENSEMBL proteins: 
 ENSP00000456506   ENSP00000454926   ENSP00000454543   ENSP00000455694   ENSP00000455164  
 ENSP00000456262  

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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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ProtoNet protein and cluster: Q8NHV5


(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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Animal Models:
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miRNA
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hsa-mir-192-5p (MIRT026893)

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016020membrane ----

Find genes that share ontologies with C16orf52           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 C16orf52
Interactions:

    Search GeneGlobe Interaction Network for C16orf52

(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 C16orf52 (CP052)



(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 C16orf52 gene (2 alternative transcripts): 
NM_173501.1  NM_001164579.1  

Unigene Cluster for C16orf52:

Chromosome 16 open reading frame 52
Hs.498890  [show with all ESTs]
Unigene Representative Sequence: NM_001164579
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000567004(uc010vbp.2) ENST00000542527(uc002dkd.2) ENST00000331057
ENST00000562695 ENST00000562186 ENST00000568049 ENST00000569656(uc002dkb.2)

miRNA
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hsa-miR-640 hsa-miR-3194-5p hsa-miR-300 hsa-miR-411 hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-10b*
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Additional mRNA sequence: 

AF086126.1 AF086142.1 AK021789.1 AK094161.1 AK095585.1 AK310438.1 BC027604.1 BC045557.1 
BC053950.1 

8 DOTS entries:

DT.314243  DT.308268  DT.120658510  DT.120659070  DT.101967559  DT.107413  DT.70102428  DT.95362420 

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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

C16orf52 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.498890
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C16orf52

(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 animals.

Orthologs for C16orf52 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia BC0303361 , 5 cDNA sequence BC0303361, 5 97.01(n)1
100(a)1
  7 (64.90 cM)5
2338121  NM_001164580.11  NP_001158052.11 
 1206776205 
chicken
(Gallus gallus)
Aves C14H16ORF521 chromosome 14 open reading frame, human C16orf52 90.02(n)
99.4(a)
  416615  XM_414916.2  XP_414916.2 
lizard
(Anolis carolinensis)
Reptilia C16orf526
chromosome 16 open reading frame 52
98(a)
1 ↔ 1
GL343846.1(152190-174153)
tropical clawed frog
(Xenopus tropicalis)
Amphibia c16orf521 chromosome 16 open reading frame 52 86.83(n)
100(a)
  100144972  NM_001126538.1  NP_001120010.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1005355511 uncharacterized LOC100535551 82.04(n)
100(a)
  100535551  XM_003198185.2  XP_003198233.1 
fruit fly
(Drosophila melanogaster)
Insecta CG141821 CG14182 55.42(n)
51.81(a)
  40181  NM_140906.2  NP_649163.1 


ENSEMBL Gene Tree for C16orf52 (if available)
TreeFam Gene Tree for C16orf52 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C16orf52 gene

Find genes that share paralogs with C16orf52           About GenesLikeMe


1 Pseudogenes.org Pseudogene for C16orf52
PGOHUM00000262423


(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 C16orf52 (see all 964)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1405741741,2
C--22017655(+) AGACTA/GTTGCA 1 -- us2k10--------
rs1839208161,2
--22017658(+) CTATTG/TCAGTA 1 -- us2k10--------
rs1995351251,2
C--22017753(+) AATAAA/CAAAAA 1 -- us2k10--------
rs607449021,2
C--22017765(+) AAAAA-/A/CCCTTT 1 -- us2k11NA 2
rs2009996431,2
C--22017766(-) GAAAGG/TTNNNN 1 -- us2k10--------
rs116481811,2
C,F,H--22018065(+) CAAACG/ATCAGG 1 -- us2k111Minor allele frequency- A:0.43NA CSA WA EA 552
rs1444941821,2
--22018149(+) CAAATA/GCCTTA 1 -- us2k10--------
rs1478627091,2
--22018206(+) GTAAAA/CGGGAT 1 -- us2k10--------
rs1903015311,2
C--22018450(+) GGATCA/TTCACA 1 -- us2k10--------
rs1932746081,2
--22018483(+) CTGCAA/GACACC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C16orf52 (22018959 - 22098855 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for C16orf52 (see all 19):    About this table    
Variant IDTypeSubtypePubMed ID
esv2714071CNV Deletion23290073
esv2672814CNV Deletion23128226
esv2714070CNV Deletion23290073
esv2714072CNV Deletion23290073
nsv435668CNV Deletion17901297
dgv48n16CNV Insertion17901297
nsv498860CNV Loss21111241
nsv1764CNV Loss18451855
dgv2647n71CNV Loss21882294
nsv905598CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing C16orf52
DNA2.0 Custom Variant and Variant Library Synthesis for C16orf52

(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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  --

(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 C16orf52 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C16orf52)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 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: 730094 HGNC: 27087 Ensembl:ENSG00000185716 euGenes: HUgn730094 ECgene: C16orf52
H-InvDB: C16orf52

(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 C16orf52 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 C16orf52 gene:
Search GeneIP for patents involving C16orf52

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 Addgene for plasmids for C16orf52
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