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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C16orf13 Gene

protein-coding GIFtS: 41
GCID: GC16M000605

chromosome 16 open reading frame 13

Explore 2 diseases affiliated with
C16orf13 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 16 Open Reading Frame 13¹ ²
MGC13114¹
UPF0585 Protein C16orf13²

External Ids:	HGNC: 14141¹	Entrez Gene: 84326²	Ensembl: ENSG00000130731⁷	UniProtKB: Q96S19³

Export aliases for C16orf13 gene to outside databases

Previous GC identifers: GC16U990159 GC16M000625

(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_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C16orf13 gene promoter:
NF-1 AP-2alpha isoform 3 AP-2alpha isoform 2 LCR-F1 E47 HEN1 Ik-2 AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C16orf13 promoter sequence

Search SABiosciences Chromatin IP Primers for C16orf13

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C16orf13

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

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

C16orf13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C16orf13 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M000605: view genomic region (about GC identifiers)

Start:	684,429 bp from pter	End:	686,358 bp from pter
Size:	1,930 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: CP013_HUMAN, Q96S19 (See protein sequence)

Recommended Name: UPF0585 protein C16orf13

Size: 204 amino acids; 22578 Da

Sequence caution: Sequence=AAK61238.1; Type=Erroneous gene model prediction; Sequence=EAW85785.1; Type=Erroneous gene

model prediction;

Secondary accessions: A8MTR1 A8MWJ8 A8MZA1 B4DG95 B4DIJ3 F6VM53 Q96IW1 Q96MD6

Alternative splicing: 4 isoforms: Q96S19-1 Q96S19-2 Q96S19-3 Q96S19-4 (No experimental confirmation available. Ref.1 (BAG58505) sequence is in conflict in position: 196:R->G)

Explore the universe of human proteins at neXtProt for C16orf13: NX_Q96S19

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96S19

C16orf13 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001035250.1 NP_001035251.1 NP_001035252.1 NP_001035255.1 NP_115742.3

ENSEMBL proteins:

ENSP00000444140 ENSP00000440765 ENSP00000445926 ENSP00000440475 ENSP00000456569

ENSP00000454359 ENSP00000444460 ENSP00000456393 ENSP00000454993 ENSP00000455614

ENSP00000454764

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

C16orf13 for domains About GeneDecksing

1 InterPro domain/family:

IPR010342 DUF938

Graphical View of Domain Structure for InterPro Entry Q96S19

ProtoNet protein and cluster: Q96S19

UniProtKB/Swiss-Prot: CP013_HUMAN, Q96S19

Similarity: Belongs to the UPF0585 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

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In Situ Assay
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Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for C16orf13

2 GenomeRNAi human phenotypes for C16orf13:

Decreased POU5F1-GFP protein e

Increased number of cells in m

(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 C16orf13

(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 C16orf13
Search CenterWatch for drugs/clinical trials and news about C16orf13 / CP013

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C16orf13 gene (8 alternative transcripts):

NM_001040163.1 NM_001040164.1 NM_001040166.1 NM_001040160.1 NM_001040161.1 NM_001040162.1 NM_001040165.1 NM_032366.3

Unigene Cluster for C16orf13:

Chromosome 16 open reading frame 13

Hs.239500 [show with all ESTs]

Unigene Representative Sequence: AK057077

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

ENST00000338401(uc002cib.1) ENST00000397666 ENST00000301686 ENST00000448973(uc002chv.1 uc002chw.1 uc002chz.1)

ENST00000397664(uc002cia.1) ENST00000568077 ENST00000456420 ENST00000397665

ENST00000564039 ENST00000568773 ENST00000565163 ENST00000568830 ENST00000565799

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Additional cDNA sequence:

AK057077.1 AK293046.1 AK294482.1 AK295628.1 BC007207.1

14 DOTS entries:

DT.92435396 DT.92435392 DT.120676469 DT.95203914 DT.100822569 DT.100822568 DT.95203921 DT.455110

DT.102845478 DT.120676483 DT.120676489 DT.100822567 DT.95203929 DT.95203935

24/213 AceView cDNA sequences (see all 213):

BX104467 AI391582 AI694786 BQ921757 CB306904 CB046936 AI393228 BF590588

AI268083 AW340951 BE502931 AI458642 AI948489 AI701426 BQ651372 BF432695

AI146806 AI291286 AI740773 CK904040 BE222399 AI738676 BE467661 BF433685

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for C16orf13 (see all 17) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	·	1g	^	2	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	·	8d
SP1:																			-				-		-										-
SP2:																			-				-												-
SP3:																			-				-		-		-		-						-
SP4:																			-		-		-		-										-
SP5:															-		-		-				-												-

ECgene alternative splicing isoforms for C16orf13

(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

C16orf13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTGCTGCC

About this image
See C16orf13 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C16orf13

SOURCE GeneReport for Unigene cluster: Hs.239500

SABiosciences Custom PCR Arrays for C16orf13

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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 animals.

Orthologs for C16orf13 gene from 5/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	0610011F06Rik^{1 , 5}	RIKEN cDNA 0610011F06 gene^{1, 5}	85.71(n)¹ 86.7(a)¹		17 (12.97 cM)⁵ 68347¹ NM_026686.2¹ NP_080962.1¹ 25875464⁵
lizard (Anolis carolinensis)	Reptilia	C16orf13⁶	--	43(a)	1 ↔ 1	AAWZ02036908(7661-20261)
zebrafish (Danio rerio)	Actinopterygii	zgc:56719¹	zgc:56719	58.78(n) 57.64(a)		386899 NM_200116.1 NP_956410.1
fruit fly (Drosophila melanogaster)	Insecta	CG18661¹	CG18661	51.68(n) 43.43(a)		50438 NM_001201814.1 NP_001188743.1
worm (Caenorhabditis elegans)	Secernentea	Y26E6A.3¹	Protein Y26E6A.3	48(n) 45(a)		3564786 NM_001029785.3 NP_001024956.1

ENSEMBL Gene Tree for C16orf13 (if available)
TreeFam Gene Tree for C16orf13 (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 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12598324^1,2	H	--	607118(+)	`ACCCGC/TCTTTC`	1	--	us2k¹		0	--	--	--	--
rs75174484^1,2	C,	--	607527(+)	`CAGGTA/CCTGCC`	1	--	us2k¹		0	--	--	--	--
rs146856867^1,2	C,	--	684073(+)	`GGCCTA/GCGCCA`	6	--	int¹ ut3¹		0	--	--	--	--
rs140710395^1,2	C,	--	684083(+)	`ACCCCA/GTCCTG`	6	--	ut3¹ int¹		0	--	--	--	--
rs200055834^1,2		--	684087(+)	`CGTCCC/TGGTGA`	6	--	int¹ ut3¹		0	--	--	--	--
rs145867128^1,2		--	684141(+)	`CTGGTC/GGGGCG`	6	--	int¹ ds500¹		0	--	--	--	--
rs151122492^1,2		--	684187(+)	`TTTCCC/GCTGGG`	6	--	int¹ ds500¹		0	--	--	--	--
rs140910943^1,2		--	684378(+)	`TCTCCC/TACCCA`	6	--	int¹ ds500¹		0	--	--	--	--
rs150195934^1,2		--	684402(+)	`CTCCTA/GGGAGG`	6	--	int¹ ds500¹		0	--	--	--	--
rs201254549^1,2		--	684479(+)	`GCCAGC/TGGCTG`	6	--	ut3¹ ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C16orf13 (684429 - 686358 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for C16orf13
10 CNVs: 49727 53069 29986 49728 3987 29982 5329 29983 4914 29985

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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

C16orf13 for disorders About GeneDecksing

2 diseases for C16orf13: About MalaCards

focal epilepsy intellectual disability

Export disorders for C16orf13 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 C16orf13 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C16orf13)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)^{1, 2} Daniels R.J....Higgs D.R. (2001)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (PubMed id 20797691)² Corbett M.A....Gecz J. (2010)
Transcriptome analysis of human gastric cancer. (PubMed id 16341674)¹ Oh J.H....Kim N.S. (2005)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (2004)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (2004)
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)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(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: 84326	HGNC: 14141	AceView: MGC13114	Ensembl:ENSG00000130731	euGenes: HUgn84326
ECgene: C16orf13	H-InvDB: C16orf13

(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 C16orf13	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C16orf13 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C16orf13 gene:
Search GeneIP for patents involving C16orf13

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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for C16orf13		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for C16orf13		OriGene Custom Protein Services for C16orf13
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C16orf13
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C16orf13
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C16orf13
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C16orf13
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C16orf13
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C16orf13

	GenScript Custom Purified and Recombinant Proteins Services for C16orf13		GenScript cDNA clones with any tag delivered in your preferred vector for C16orf13
	GenScript Custom Assay Services for C16orf13		GenScript Custom Superior Antibodies Services for C16orf13
	GenScript Custom overexpressing Cell Line Services for C16orf13		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
	Custom Peptide Services

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	Regulatory tfbs in C16orf13 promoter
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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	Search for Antibodies for C16orf13 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for C16orf13
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Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for C16orf13

	SwitchGear 3'UTR luciferase reporter plasmids for C16orf13
	SwitchGear Promoter luciferase reporter plasmids for C16orf13

ThermoFisher Antibodies for C16orf13

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C16orf13

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 C16orf13 gene at Home site.

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C16orf13 Gene

chromosome 16 open reading frame 13

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C16orf13 Gene

chromosome 16 open reading frame 13

Aliasesfor C16orf13 gene

Summariesfor C16orf13 gene

Genomic Viewsfor C16orf13 gene

Proteinsfor C16orf13 gene

Protein Domains /Familiesfor C16orf13 gene

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Genome Databases showing C16orf13 gene

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for C16orf13 gene

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for C16orf13 gene

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for C16orf13 gene

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Intellectual Property
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