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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C8orf31 Gene

protein-coding GIFtS: 38
GCID: GC08P144120 (predicted)

chromosome 8 open reading frame 31

Search for C8orf31
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 8 Open Reading Frame 31¹ ²
FLJ37131¹
Uncharacterized Protein C8orf31²

External Ids:	HGNC: 26731¹	Entrez Gene: 286122²	Ensembl: ENSG00000177335⁷	UniProtKB: Q8N9H6³

Export aliases for C8orf31 gene to outside databases

Previous GC identifers: GC08P144193 GC08P139374

(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_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C8orf31 gene promoter:
NCX/Ncx Lmo2 IRF-1 LUN-1 LCR-F1 C/EBPalpha AREB6 c-Rel En-1
Other transcription factors

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Search SABiosciences Chromatin IP Primers for C8orf31

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf31

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

Entrez Gene cytogenetic band: 8q24.3 Ensembl cytogenetic band: 8q24.3 HGNC cytogenetic band: 8q24.3

C8orf31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf31 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P144120: view genomic region (about GC identifiers)

Start:	144,120,626 bp from pter	End:	144,141,359 bp from pter
Size:	20,734 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,
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: CH031_HUMAN, Q8N9H6 (See protein sequence)

Recommended Name: Uncharacterized protein C8orf31

Size: 132 amino acids; 14527 Da

Secondary accessions: Q6GMU7

Alternative splicing: 2 isoforms: Q8N9H6-1 Q8N9H6-2 (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for C8orf31: NX_Q8N9H6

C8orf31 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_775958.1

ENSEMBL proteins:

ENSP00000427838 ENSP00000378601

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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: Q8N9H6

(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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2 GenomeRNAi human phenotypes for C8orf31:

Downregulation of NF-kappaB pa

(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 C8orf31

(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

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Search CenterWatch for drugs/clinical trials and news about C8orf31 / CH031

(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 C8orf31 gene:

NM_173687.2

Unigene Cluster for C8orf31:

Chromosome 8 open reading frame 31

Hs.660382 [show with all ESTs]

Unigene Representative Sequence: AK094450

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

ENST00000517653 ENST00000523766 ENST00000523099 ENST00000524181 ENST00000395172(uc003yxp.1 uc003yxq.1 uc003yxr.1)

ENST00000519775 ENST00000520786

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Additional cDNA sequence:

AK094450.1 BC063497.1 BC073830.1 BC120993.2

6 DOTS entries:

DT.99999040 DT.40211383 DT.40300546 DT.120639837 DT.40114243 DT.91819809

17 AceView cDNA sequences:

BI554105 BM992177 AW103100 C01896 BC063497 AI870525 AA348065 AK094450

BC073830 NM_173687 BX096051 AI824495 AA375300 AA010253 AW193111 AA010252

BE541521

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C8orf31 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6
SP1:			-
SP2:							-				-
SP3:							-

ECgene alternative splicing isoforms for C8orf31

(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

C8orf31 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACACCCGGGA

About this image

C8orf31 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: 2 LifeMap Cells

Name

Category

Endoderm progenitor-like cells (Generation and expan...)

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for C8orf31

SOURCE GeneReport for Unigene cluster: Hs.660382

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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

--

ENSEMBL Gene Tree for C8orf31 (if available)
TreeFam Gene Tree for C8orf31 (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)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190263623^1,2		--	144118704(+)	`ACCATC/TTCATC`	1	--	us2k¹		0	--	--	--	--
rs116415234^1,2	F,	--	144118756(+)	`ACCCCG/AGCCAC`	1	--	us2k¹		1		WA	118
rs138896327^1,2	C,	--	144118845(+)	`TCTTC-/AAATAT`	1	--	us2k¹		0	--	--	--	--
rs7817502^1,2	C,F,	--	144118888(+)	`CCATCC/TTGTAA`	1	--	us2k¹		1		WA	118
rs72499123^1,2	F,	--	144118896(+)	`TAAAAC/TGCAGA`	1	--	us2k¹		2		WA EA	238
rs73717936^1,2	C,F,	--	144118908(+)	`TAAGCC/GGGAGA`	1	--	us2k¹		3		WA CSA	122
rs182288226^1,2		--	144118973(+)	`TTTGAA/GGCCAG`	1	--	us2k¹		0	--	--	--	--
rs74584626^1,2	F,	--	144118980(+)	`CCAGGA/GGTTCA`	1	--	us2k¹		2		WA EA	238
rs143534509^1,2	C,	--	144119023(+)	`TCTCT-/AAAAAA`	1	--	us2k¹		0	--	--	--	--
rs5895740^1,2	C	--	144119024(+)	`AAAAA-/ATAAGT`	1	--	us2k¹ tfbs³		0	--	--	--	--

HapMap Linkage Disequilibrium report for C8orf31 (144120626 - 144141359 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for C8orf31
3 CNVs: 36775 65291 7672

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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 C8orf31 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C8orf31)

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)
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: 286122	HGNC: 26731	AceView: FLJ37131	Ensembl:ENSG00000177335	euGenes: HUgn286122
ECgene: C8orf31	H-InvDB: C8orf31

(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 C8orf31	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C8orf31 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C8orf31 gene:
Search GeneIP for patents involving C8orf31

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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C8orf31 Gene

chromosome 8 open reading frame 31

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C8orf31 Gene

chromosome 8 open reading frame 31

Aliasesfor C8orf31 gene

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Aliases
for C8orf31 gene

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for C8orf31 gene

Genomic Views
for C8orf31 gene

Proteins
for C8orf31 gene

Protein Domains /
Families
for C8orf31 gene

Function
for C8orf31 gene

Pathways & Interactions
for C8orf31 gene

Drugs & Compounds
for C8orf31 gene

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for C8orf31 gene

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for C8orf31 gene

Orthologs
for C8orf31 gene

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for C8orf31 gene

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for C8orf31 gene

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for C8orf31 gene

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for C8orf31 gene

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for C8orf31 gene