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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C15orf60 Gene

protein-coding GIFtS: 35
GCID: GC15P073735

chromosome 15 open reading frame 60

Search for C15orf60
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chromosome 15 Open Reading Frame 60¹ ²
FLJ27520¹
FLJ36860¹
FLJ44083¹
LOC283677¹
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences 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

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
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About This Section

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7Z4M0

C15orf60 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001035826.1

ENSEMBL proteins:

ENSP00000328423 ENSP00000452908

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

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,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: R114L_HUMAN, Q7Z4M0

Function: May play a role in meiotic DNA double-strand break formation (By similarity)

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

C15orf60 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C15orf60

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006310	DNA recombination	IEA	--
GO:0007126	meiosis	IEA	--

C15orf60 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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Search CenterWatch for drugs/clinical trials and news about C15orf60 / R114L

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for C15orf60 gene:

NM_001042367.1

Unigene Cluster for C15orf60:

Chromosome 15 open reading frame 60

Hs.743574 [show with all ESTs]

Unigene Representative Sequence: BG194714

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000331090(uc002avq.3 uc010bjb.3) ENST00000560581

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Additional cDNA sequence:

AK131030.1 BC055412.1

5 DOTS entries:

DT.91674688 DT.100734950 DT.100845373 DT.100845387 DT.95355924

14 AceView cDNA sequences:

AA398327 BX113903 AK131030 AA399400 BU567206 AI989520 AI032393 BC055412

BU567644 BG216644 BG198804 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™, 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

C15orf60 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGTGCAGAA

About this image

C15orf60 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)

Bone, Cartilage, Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C15orf60 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C15orf60

SOURCE GeneReport for Unigene cluster: Hs.743574

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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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C15orf60 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	2410076I21Rik^{1 , 5}	RIKEN cDNA 2410076I21 gene^{1, 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	65.77(n) 57.66(a)		769575 XM_001232861.2 XP_001232862.2
lizard (Anolis carolinensis)	Reptilia	C15orf60⁶	--	52(a)	1 ↔ 1	5(139770893-139777655)
zebrafish (Danio rerio)	Actinopterygii	si:ch1073-75f15.2¹	si:ch1073-75f15.2	51.38(n) 43.12(a)		795419 XM_001335561.2 XP_001335597.2

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)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77350426^1,2	F,	--	73733569(+)	`TGCTGG/AAAAGA`	1	--	us2k¹		1		NA	120
rs187343110^1,2		--	73733579(+)	`ATAAGC/TAGCAG`	1	--	us2k¹		0	--	--	--	--
rs144587206^1,2		--	73733590(+)	`GCCCCA/GCTTGC`	1	--	us2k¹		0	--	--	--	--
rs139025102^1,2		--	73733668(+)	`CATTCC/TCCCAT`	1	--	us2k¹		0	--	--	--	--
rs79841755^1,2	F,	--	73733766(+)	`TGTAGC/ACTCAT`	1	--	us2k¹		2		NA EA	240
rs73442036^1,2	C,	--	73733767(+)	`GTAGCC/TTCATT`	1	--	us2k¹		3		WA EA	240
rs16957901^1,2	C,F,H,	--	73733791(+)	`AACTTC/TGCATT`	1	--	us2k¹		22		NA NS EA WA CSA	2362
rs190966802^1,2		--	73733832(+)	`ACAACG/TTTACT`	1	--	us2k¹		0	--	--	--	--
rs74912560^1,2	C,F,	--	73733885(+)	`TCCCTC/TGGGAA`	1	--	us2k¹		1		WA	118
rs142232603^1,2		--	73733900(+)	`TTCTCA/TCCCTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C15orf60 (73735499 - 73852355 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C15orf60: --

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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.)
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 C15orf60 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C15orf60)

Utopia: connect your pdf to the dynamic
world of online information

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)
Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)² Zody M.C....Nusbaum C. (2006)
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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 283677	HGNC: 25065	AceView: LOC283677	Ensembl:ENSG00000183324	euGenes: HUgn283677
ECgene: C15orf60	H-InvDB: C15orf60

(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

Name	Description
PharmGKB entry for C15orf60	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C15orf60 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C15orf60 gene at Home site.

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C15orf60 Gene

chromosome 15 open reading frame 60

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C15orf60 Gene

chromosome 15 open reading frame 60

Aliasesfor C15orf60 gene

Summariesfor C15orf60 gene

Genomic Viewsfor C15orf60 gene

Proteinsfor C15orf60 gene

Protein Domains /Familiesfor C15orf60 gene

Functionfor C15orf60 gene

Pathways & Interactionsfor C15orf60 gene

Drugs & Compoundsfor C15orf60 gene

Transcriptsfor C15orf60 gene

Expression for C15orf60 gene

Orthologsfor C15orf60 gene

Paralogsfor C15orf60 gene

Genomic Variantsfor C15orf60 gene

Disorders / Diseasesfor C15orf60 gene

Publicationsfor C15orf60 gene

External Searches for C15orf60 gene

Genome Databases showing C15orf60 gene

Other Databases showing C15orf60 gene

Specialized Databases showing C15orf60 gene

Intellectual Propertyfor C15orf60 gene

Productsfor C15orf60 gene

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Aliases
for C15orf60 gene

Summaries
for C15orf60 gene

Genomic Views
for C15orf60 gene

Proteins
for C15orf60 gene

Protein Domains /
Families
for C15orf60 gene

Function
for C15orf60 gene

Pathways & Interactions
for C15orf60 gene

Drugs & Compounds
for C15orf60 gene

Transcripts
for C15orf60 gene

Expression
for C15orf60 gene

Orthologs
for C15orf60 gene

Paralogs
for C15orf60 gene

Genomic Variants
for C15orf60 gene

Disorders / Diseases
for C15orf60 gene

Publications
for C15orf60 gene

Intellectual Property
for C15orf60 gene

Products
for C15orf60 gene