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C15orf60 Gene

protein-coding   GIFtS: 32
GCID: GC15P073735

Chromosome 15 Open Reading Frame 60

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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 15 Open Reading Frame 601 2
CT1472
Meiotic Recombination Protein REC114-Like2

External Ids:    HGNC: 250651   Entrez Gene: 2836772   Ensembl: ENSG000001833247   UniProtKB: Q7Z4M03   

Export aliases for C15orf60 gene to outside databases

Previous GC identifers: GC15P071523 GC15P050566


(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 C15orf60 Gene:
C15orf60 (chromosome 15 open reading frame 60) is a protein-coding gene.

UniProtKB/Swiss-Prot: R114L_HUMAN, Q7Z4M0
Function: May play a role in meiotic DNA double-strand break formation (By similarity)




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the C15orf60 gene promoter:
         Oct-B1   POU2F2 (Oct-2.1)   oct-B2   oct-B3   POU2F2   POU2F2C   POU2F1   POU2F1a   Sox9   POU2F2B   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C15orf60


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

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q22

C15orf60 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C15orf60 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P073735:  view genomic region     (about GC identifiers)

Start:
73,735,499 bp from pter      End:
73,852,355 bp from pter
Size:
116,857 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: R114L_HUMAN, Q7Z4M0 (See protein sequence)
Recommended Name: Meiotic recombination protein REC114-like  
Size: 266 amino acids; 29155 Da
Subunit: Interacts with MEI4 (By similarity)
Sequence caution: Sequence=AAH55412.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Explore the universe of human proteins at neXtProt for C15orf60: NX_Q7Z4M0

Explore proteomics data for C15orf60 at MOPED


See C15orf60 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001035826.1  
ENSEMBL proteins: 
 ENSP00000328423   ENSP00000452908  

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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: Q7Z4M0

UniProtKB/Swiss-Prot: R114L_HUMAN, Q7Z4M0
Similarity: Belongs to the REC114L family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: R114L_HUMAN, Q7Z4M0
Function: May play a role in meiotic DNA double-strand break formation (By similarity)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with C15orf60           About GenesLikeMe


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 COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
golgi apparatus1
plasma membrane1

(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 C15orf60
Interactions:

    Search GeneGlobe Interaction Network for C15orf60

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006310DNA recombination IEA--
GO:0007126meiotic nuclear division IEA--

Find genes that share ontologies with C15orf60           About GenesLikeMe



(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 C15orf60 (R114L)



(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 C15orf60 gene: 
NM_001042367.1  

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000331090(uc002avq.3 uc010bjb.3) ENST00000560581
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14 AceView cDNA sequences:

AA398327 BX113903 AI989520 AA399400 BC055412 BU567206 AK131030 AI032393 
BG198804 BG216644 BU567644 BG196748 BG193772 BG194714 

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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C15orf60 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGTGCAGAA
C15orf60 Expression
About this image


C15orf60 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
 
 Neurons
         Glycinergic Amacrine Cells Inner Nuclear Layer
 
 Eye (Sensory Organs)
         Glycinergic Amacrine Cells Inner Nuclear Layer
 
 Testis (Reproductive System)
C15orf60 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C15orf60 Protein Expression
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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 C15orf60 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2410076I21Rik1 , 5 RIKEN cDNA 2410076I21 gene1, 5 76.45(n)1
68.73(a)1
  9 (31.79 cM)5
736731  NM_028598.11  NP_082874.11 
 586528565 
chicken
(Gallus gallus)
Aves C10H15ORF601 chromosome 10 open reading frame, human C15orf60 65.17(n)
56.76(a)
  769575  XM_001232861.3  XP_001232862.3 
lizard
(Anolis carolinensis)
Reptilia C15orf606
chromosome 15 open reading frame 60
51(a)
1 ↔ 1
5(139770893-139777655)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1017346051 chromosome unknown open reading frame, human C15orf6 more 55.09(n)
43.66(a)
  101734605  XM_004915964.1  XP_004916021.1 
zebrafish
(Danio rerio)
Actinopterygii C18H15orf60 (2 of 2)6
C18H15orf60 (1 of 2)6
chromosome 15 open reading frame 60
41(a)
38(a)
many → 1
many → 1
18(953876-961501) ENSDARG00000095394
18(945258-958293) ENSDARG00000069781


ENSEMBL Gene Tree for C15orf60 (if available)
TreeFam Gene Tree for C15orf60 (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 C15orf60 (see all 1938)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs773504261,2
C,F--73733569(+) TGCTGG/AAAAGA 1 -- us2k11Minor allele frequency- A:0.03NA 120
rs1873431101,2
--73733579(+) ATAAGC/TAGCAG 1 -- us2k10--------
rs1445872061,2
--73733590(+) GCCCCA/GCTTGC 1 -- us2k10--------
rs1390251021,2
--73733668(+) CATTCC/TCCCAT 1 -- us2k10--------
rs798417551,2
C,F--73733766(+) TGTAGC/ACTCAT 1 -- us2k12Minor allele frequency- A:0.09NA EA 240
rs734420361,2
C--73733767(+) GTAGCC/TTCATT 1 -- us2k13Minor allele frequency- T:0.06WA EA 240
rs169579011,2
C,F,H--73733791(+) AACTTC/TGCATT 1 -- us2k122Minor allele frequency- T:0.06NA NS EA WA CSA 2362
rs1909668021,2
--73733832(+) ACAACG/TTTACT 1 -- us2k10--------
rs749125601,2
C,F--73733885(+) TCCCTC/TGGGAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
rs1422326031,2
--73733900(+) TTCTCA/TCCCTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C15orf60 (73735499 - 73852355 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for C15orf60:    About this table    
Variant IDTypeSubtypePubMed ID
esv2749872CNV Deletion23290073
esv2662664CNV Deletion23128226
esv2673071CNV Deletion23128226
nsv525433CNV Loss19592680
nsv904344CNV Gain21882294
nsv904343CNV Gain21882294

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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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(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 C15orf60 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C15orf60)
    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. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)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)
  5. 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: 283677 HGNC: 25065 AceView: LOC283677 Ensembl:ENSG00000183324 euGenes: HUgn283677
ECgene: C15orf60 H-InvDB: C15orf60

(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 C15orf60 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 C15orf60 gene:
Search GeneIP for patents involving C15orf60

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, eBioscience, antibodies-online, 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 genOway)
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 Browse SwitchGear Promoter luciferase reporter plasmids for C15orf60
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 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C15orf60
 Browse compounds at ApexBio
 Search Addgene for plasmids for C15orf60
  Search eBioscience for proteins for C15orf60
  Search eBioscience for elisas for C15orf60
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for C15orf60
  Search antibodies-online for antibodies for C15orf60
 antibodies-online kits for C15orf60
  Search antibodies-online for peptides for C15orf60
 antibodies-online proteins for C15orf60 (2 products)
       
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