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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C5orf15 Gene

protein-coding GIFtS: 45
GCID: GC05M133291

chromosome 5 open reading frame 15

Explore 2 diseases affiliated with
C5orf15 via

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 5 Open Reading Frame 15¹ ²
KCT2¹ ²
HTGN29¹
Keratinocyte-Associated Transmembrane Protein 2²
Keratinocytes Associated Transmembrane Protein 2²

External Ids:	HGNC: 20656¹	Entrez Gene: 56951²	Ensembl: ENSG00000113583⁷	UniProtKB: Q8NC54³

Export aliases for C5orf15 gene to outside databases

Previous GC identifers: GC05M133368 GC05M133319 GC05M128476

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

(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_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C5orf15 gene promoter:
STAT1 POU3F1 STAT1beta POU6F1 (c2) FOXL1 STAT1alpha C/EBPalpha E2F E2F-1 HFH-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C5orf15 promoter sequence

Search SABiosciences Chromatin IP Primers for C5orf15

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf15

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

Entrez Gene cytogenetic band: 5q31.1 Ensembl cytogenetic band: 5q31.1 HGNC cytogenetic band: 5q31.1

C5orf15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf15 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M133291: view genomic region (about GC identifiers)

Start:	133,291,198 bp from pter	End:	133,304,478 bp from pter
Size:	13,281 bases	Orientation:	minus 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,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KCT2_HUMAN, Q8NC54 (See protein sequence)

Recommended Name: Keratinocyte-associated transmembrane protein 2 precursor

Size: 265 amino acids; 29235 Da

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Secondary accessions: B2RD10 D3DQ92 Q9NRG2

Explore the universe of human proteins at neXtProt for C5orf15: NX_Q8NC54

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NC54

C5orf15 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_064584.1

ENSEMBL proteins:

ENSP00000231512

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	Uscn Proteins for C5orf15

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

C5orf15 for ontologies About GeneDecksing

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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: Q8NC54

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C5orf15

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In Situ Assay
Products:

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(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 C5orf15

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

4 Interacting proteins for C5orf15 (Q8NC54³ ENSP00000231512⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MEF2A	Q02078³	I2D: score=2
PTK2	Q05397³	I2D: score=2
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269

About this table

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C5orf15
Search CenterWatch for drugs/clinical trials and news about C5orf15 / KCT2

(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 C5orf15 gene:

NM_020199.2

Unigene Cluster for C5orf15:

Chromosome 5 open reading frame 15

Hs.744034 [show with all ESTs]

Unigene Representative Sequence: AF226055

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

ENST00000231512(uc003kyo.3) ENST00000507191 ENST00000509913

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		SwitchGear 3'UTR luciferase reporter plasmid: C5orf15 3' UTR sequence

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Additional cDNA sequence:

AF035313.1 AF226055.1 AK074963.1 AK315362.1 AY157581.1 BC020875.1

12 DOTS entries:

DT.452315 DT.100687643 DT.100835359 DT.95085078 DT.95085080 DT.91773436 DT.91956525 DT.91773433

DT.100036389 DT.100826499 DT.120821434 DT.121413063

24/309 AceView cDNA sequences (see all 309):

BQ018776 BX951925 AL711082 CA306045 BM830790 BQ017190 CB163133 CA445738

BM770000 AW057616 BQ231602 BG251672 BQ082852 AI459450 N73915 BU187707

CR608320 BP430911 BM856077 BM804799 BI767473 CB529892 CR591352 AA577566

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C5orf15 About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	·	3c	^	4	^	5
SP1:
SP2:
SP3:									-
SP4:							-		-

ECgene alternative splicing isoforms for C5orf15

(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

C5orf15 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTGACTTAC

About this image

C5orf15 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

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C5orf15 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C5orf15

SOURCE GeneReport for Unigene cluster: Hs.744034

UniProtKB/Swiss-Prot: KCT2_HUMAN, Q8NC54

Tissue specificity: Widely expressed

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In Situ
Assay Products:

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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 C5orf15 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	9530068E07Rik^{1 , 5}	RIKEN cDNA 9530068E07 gene^{1, 5}	68.76(n)¹ 65.88(a)¹		11 (31.86 cM)⁵ 213673¹ NM_153117.2¹ NP_694757.1¹ 52396428⁵
chicken (Gallus gallus)	Aves	C13H5orf15¹	chromosome 13 open reading frame, human C5orf15	59.62(n) 51.92(a)		416321 NM_001006154.2 NP_001006154.2
lizard (Anolis carolinensis)	Reptilia	C5orf15⁶	--	36(a)	1 ↔ 1	GL344355.1(13286-14781)
African clawed frog (Xenopus laevis)	Amphibia	Xl.14510²	Xenopus laevis transcribed sequence with weak similarity more	76.7(n)		BI448885.1

ENSEMBL Gene Tree for C5orf15 (if available)
TreeFam Gene Tree for C5orf15 (if available)

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

Paralogs for C5orf15 gene

C5orf15 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for C5orf15
PGOHUM00000244119 PGOHUM00000263048

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs180775333^1,2		--	133290702(+)	`CCCCTA/GCGTGC`	1	--	int¹		0	--	--	--	--
rs149180086^1,2		--	133290799(+)	`AAAGTC/GTGAGG`	1	--	int¹		0	--	--	--	--
rs7449072^1,2	C,F,H	--	133290851(+)	`AGGAAA/GTACCC`	1	--	int¹		24		EA NA NS WA	2776
rs185600488^1,2		--	133290947(+)	`GAGCAA/CACTGA`	1	--	int¹		0	--	--	--	--
rs142404387^1,2		--	133290951(+)	`ACACTA/GATTTA`	1	--	int¹		0	--	--	--	--
rs61372180^1,2	C	--	133291008(+)	`AAACTT/ACAGTA`	1	--	int¹		2		WA	120
rs75793821^1,2	C	--	133291079(+)	`GAGTTG/TCACTG`	1	--	int¹		0	--	--	--	--
rs146861901^1,2		--	133291092(+)	`GAGAGC/GGACAC`	1	--	int¹		0	--	--	--	--
rs76508232^1,2	C,F	--	133291112(+)	`AATCAG/CGTTAG`	1	--	int¹		2		NA EA	240
rs190003719^1,2		--	133291145(+)	`TCCCCA/GTCACC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C5orf15 (133291198 - 133304478 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C5orf15: --

SABiosciences Cancer Mutation 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.)
About This Section

C5orf15 for disorders About GeneDecksing

2 diseases for C5orf15: About MalaCards

conduct disorder adhd

Export disorders for C5orf15 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)
About This Section

PubMed articles for C5orf15 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with C5orf15)

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

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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes. (PubMed id 12752121)^{1, 2} Bonkobara M.... Ariizumi K. (2003)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)¹ Anney R.J....Gill M. (2008)

(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: 56951	HGNC: 20656	AceView: C5orf15	Ensembl:ENSG00000113583	euGenes: HUgn56951
ECgene: C5orf15	H-InvDB: C5orf15

(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 C5orf15	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C5orf15 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C5orf15 gene:
Search GeneIP for patents involving C5orf15

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	OriGene Protein Over-expression Lysate for C5orf15		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for C5orf15		OriGene 3'-UTR Clone for C5orf15
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C5orf15		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C5orf15
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for C5orf15		OriGene Custom Protein Services for C5orf15
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C5orf15
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C5orf15
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf15
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C5orf15
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	GenScript Custom Purified and Recombinant Proteins Services for C5orf15		GenScript cDNA clones with any tag delivered in your preferred vector for C5orf15
	GenScript Custom Assay Services for C5orf15		GenScript Custom Superior Antibodies Services for C5orf15
	GenScript Custom overexpressing Cell Line Services for C5orf15		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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	Regulatory tfbs in C5orf15 promoter
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf15

	SwitchGear 3'UTR luciferase reporter plasmids for C5orf15
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ThermoFisher Antibody for C5orf15

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf15

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C5orf15

Sirion Biotech Customized:

	stable knockdown cell line services for C5orf15
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 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 C5orf15 gene at Home site.

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C5orf15 Gene

chromosome 5 open reading frame 15

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C5orf15 Gene

chromosome 5 open reading frame 15

Aliasesfor C5orf15 gene

Summariesfor C5orf15 gene

Genomic Viewsfor C5orf15 gene

Proteinsfor C5orf15 gene

Protein Domains /Familiesfor C5orf15 gene

Functionfor C5orf15 gene

Pathways & Interactionsfor C5orf15 gene

Drugs & Compoundsfor C5orf15 gene

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Expression for C5orf15 gene

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External Searches for C5orf15 gene

Genome Databases showing C5orf15 gene

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Specialized Databases showing C5orf15 gene

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for C5orf15 gene

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for C5orf15 gene

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for C5orf15 gene

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for C5orf15 gene

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for C5orf15 gene

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