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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C6orf136 Gene

protein-coding GIFtS: 43
GCID: GC06P030614

chromosome 6 open reading frame 136

Search for C6orf136
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 6 Open Reading Frame 136¹ ²
Em:AB023049.8¹
Uncharacterized Protein C6orf136²

External Ids:	HGNC: 21301¹	Entrez Gene: 221545²	Ensembl: ENSG00000204564⁷	UniProtKB: Q5SQH8³

Export aliases for C6orf136 gene to outside databases

Previous GC identifers: GC06P030385 GC06P030721 GC06P030722 GC06P030414

(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_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167245.1 NT_167246.1 NT_167247.1 NT_167248.1

NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C6orf136 gene promoter:
MZF-1 Max HOXA5 FOXJ2 HNF-3beta c-Myc
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C6orf136

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf136

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

Entrez Gene cytogenetic band: 6p21.33 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.32

C6orf136 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf136 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P030614: view genomic region (about GC identifiers)

Start:	30,614,816 bp from pter	End:	30,620,987 bp from pter
Size:	6,172 bases	Orientation:	plus strand

6 alternative locations:

Chr6+,ALT_REF_LOCI_2 30,604,663-30,650,014	Chr6+,ALT_REF_LOCI_4 30,582,547-30,588,713	Chr6+,ALT_REF_LOCI_5 30,608,097-30,614,268
Chr6+,ALT_REF_LOCI_6 30,604,326-30,646,072	Chr6+,ALT_REF_LOCI_3 30,605,056-30,622,259	Chr6+,ALT_REF_LOCI_7 30,536,561-30,542,724

(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: CF136_HUMAN, Q5SQH8 (See protein sequence)

Recommended Name: Uncharacterized protein C6orf136

Size: 315 amino acids; 35794 Da

Sequence caution: Sequence=CAI17760.2; Type=Erroneous gene model prediction; Sequence=CAI41881.2; Type=Erroneous gene

model prediction; Sequence=CAI95540.2; Type=Erroneous gene model prediction; Sequence=CAI95541.2; Type=Erroneous gene

model prediction;

Secondary accessions: A9R9P9 Q5SU01 Q6ZSB7 Q8TB84

Alternative splicing: 3 isoforms: Q5SQH8-1 Q5SQH8-2 Q5SQH8-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C6orf136: NX_Q5SQH8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5SQH8

C6orf136 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001103408.1 NP_001154848.1 NP_659466.2

ENSEMBL proteins:

ENSP00000418599 ENSP00000419968 ENSP00000365656 ENSP00000418223 ENSP00000365654

ENSP00000415810 ENSP00000418616 ENSP00000418154 ENSP00000419610 ENSP00000419460

ENSP00000293604 ENSP00000431811

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	Uscn Proteins for C6orf136

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:0005739	mitochondrion	--	--

C6orf136 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

C6orf136 for domains About GeneDecksing

1 InterPro domain/family:

IPR018790 DUF2358

Graphical View of Domain Structure for InterPro Entry Q5SQH8

ProtoNet protein and cluster: Q5SQH8

(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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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate C6orf136:
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In Situ Assay
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1 GenomeRNAi human phenotype for C6orf136:

Increased gamma-H2AX phosphory

(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 C6orf136

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

4 Interacting proteins for C6orf136 (Q5SQH8^{2, 3} ENSP00000365656⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSNK2B	P67870²^,³	MINT-8253099 I2D: score=2
PLK1	P53350²^,³	MINT-8266810 I2D: score=2
--	ENSP00000415615⁴	STRING: ENSP00000415615
--	ENSP00000395546⁴	STRING: ENSP00000395546

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 C6orf136
Search CenterWatch for drugs/clinical trials and news about C6orf136 / CF136

(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,
RNAi Products from EMD Millipore,
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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 C6orf136 gene (3 alternative transcripts):

NM_001109938.2 NM_001161376.1 NM_145029.3

Unigene Cluster for C6orf136:

Chromosome 6 open reading frame 136

Hs.591787 [show with all ESTs]

Unigene Representative Sequence: NM_001161376

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

ENST00000484551 ENST00000488383 ENST00000376473 ENST00000463794 ENST00000376471

ENST00000493705 ENST00000446773 ENST00000487873 ENST00000465699 ENST00000467801

ENST00000468785 ENST00000460172 ENST00000293604(uc003nqx.4 uc003nqw.4 uc011dmn.2)

ENST00000528347

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Additional cDNA sequence:

AK127564.1 BC016167.1 BC064397.1 BC073975.1

10 DOTS entries:

DT.100787658 DT.40130931 DT.121360383 DT.121360342 DT.91998700 DT.95181649 DT.100787657 DT.121360133

DT.40305143 DT.85104099

24/94 AceView cDNA sequences (see all 94):

BC064397 BQ022831 CB123751 AW168224 BC073975 BQ954823 AI969456 AI371672

BU679422 F30444 AI143133 AA349249 BM790196 BC016167 BQ287877 AI380132

BE463549 BM677371 BM558827 BU728727 BM695485 NM_145029 AW771243 AA488307

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

C6orf136 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTGTAAAG

About this image
See C6orf136 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C6orf136

SOURCE GeneReport for Unigene cluster: Hs.591787

SABiosciences Custom PCR Arrays for C6orf136

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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 C6orf136 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	2310061I04Rik^{1 , 5}	RIKEN cDNA 2310061I04 gene^{1, 5}	83.05(n)¹ 78.69(a)¹		17 (18.75 cM)⁵ 69662¹ NM_001033630.1¹ NP_001028802.1¹ 35892677⁵
lizard (Anolis carolinensis)	Reptilia	C6orf136⁶	--	55(a)	1 ↔ 1	2(192107527-192113446)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-215a10.4⁶	si:ch211-215a10.4	30(a)	1 ↔ 1	19(31695523-31715803)
fruit fly (Drosophila melanogaster)	Insecta	CG16787¹	CG16787	47.2(n) 36.91(a)		37811 NM_138013.2 NP_611857.3

ENSEMBL Gene Tree for C6orf136 (if available)
TreeFam Gene Tree for C6orf136 (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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115572115^1,2	F,	--	30615213(+)	`GTGCCC/TTGCAG`	4	L	syn¹ int¹		2		WA EA	238
rs28360037^1,2	C,F,	--	30615244(+)	`CGCGGG/AAGCGG`	4	/E /G	mis¹ int¹ ese³		1		WA	118
rs3132594^1,2	C,F,A,H,	--	30615260(-)	`CGGCAG/ACGCCT`	4	/R	syn¹ int¹ ese³		1		WA	118
rs116816200^1,2	C,F,	--	30615284(+)	`AGGACG/ATCGGT`	4	/T	syn¹ int¹		1		NA	120
rs186287743^1,2	C,	--	30615357(+)	`CGCCCA/GACTCT`	4	N D	int¹ mis¹		0	--	--	--	--
rs190816727^1,2		--	30615368(+)	`CCGCGA/GTTACC`	4	R	syn¹ int¹		0	--	--	--	--
rs146616682^1,2		--	30615413(+)	`GAGATC/TCGTAG`	4	I	int¹ syn¹		0	--	--	--	--
rs117903822^1,2	C,F,	--	30615603(+)	`CCTCTA/GGGACA`	4	R G	mis¹ int¹		1		EA	120
rs112155635^1,2		--	30615722(+)	`GTGACC/TTCCCC`	3	--	int¹		1		CSA	2
rs143403912^1,2		--	30615725(+)	`ACCTCA/CCCTTG`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C6orf136 (30614816 - 30620987 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C6orf136: --

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

(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 C6orf136 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C6orf136)

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)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
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)
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)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 221545	HGNC: 21301	AceView: C6orf136	Ensembl:ENSG00000204564	euGenes: HUgn221545
ECgene: C6orf136	H-InvDB: C6orf136

(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 C6orf136	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C6orf136 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C6orf136 gene:
Search GeneIP for patents involving C6orf136

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	GenScript Custom Purified and Recombinant Proteins Services for C6orf136		GenScript cDNA clones with any tag delivered in your preferred vector for C6orf136
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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ThermoFisher Antibody for C6orf136

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6orf136

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 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 C6orf136 gene at Home site.

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C6orf136 Gene

chromosome 6 open reading frame 136

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C6orf136 Gene

chromosome 6 open reading frame 136

Aliasesfor C6orf136 gene

Summariesfor C6orf136 gene

Genomic Viewsfor C6orf136 gene

Proteinsfor C6orf136 gene

Protein Domains /Familiesfor C6orf136 gene

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Genome Databases showing C6orf136 gene

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Specialized Databases showing C6orf136 gene

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for C6orf136 gene

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for C6orf136 gene

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for C6orf136 gene

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