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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C2orf48 Gene

protein-coding GIFtS: 32
GCID: GC02P010281 (predicted)

chromosome 2 open reading frame 48

Search for C2orf48
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 2 Open Reading Frame 48¹ ²
FLJ25102¹
Uncharacterized Protein C2orf48²

External Ids:	HGNC: 26322¹	Entrez Gene: 348738²	Ensembl: ENSG00000163009⁷	UniProtKB: Q96LS8³

Export aliases for C2orf48 gene to outside databases

Previous GC identifer: GC02P010198

(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_000002.11 NC_018913.1 NT_005334.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C2orf48 gene promoter:
AREB6 CREB Sp1 POU2F1a POU2F1b deltaCREB POU2F1c
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf48

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

Entrez Gene cytogenetic band: 2p25.1 Ensembl cytogenetic band: 2p25.1 HGNC cytogenetic band: 2p25.1

C2orf48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf48 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P010281: view genomic region (about GC identifiers)

Start:	10,281,509 bp from pter	End:	10,351,856 bp from pter
Size:	70,348 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: CB048_HUMAN, Q96LS8 (See protein sequence)

Recommended Name: Uncharacterized protein C2orf48

Size: 159 amino acids; 17367 Da

Explore the universe of human proteins at neXtProt for C2orf48: NX_Q96LS8

C2orf48 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_872432.1

ENSEMBL proteins:

ENSP00000371205

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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: Q96LS8

(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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(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 C2orf48

(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 C2orf48 / CB048

(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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About This Section

REFSEQ mRNAs for C2orf48 gene:

NM_182626.2

Unigene Cluster for C2orf48:

Chromosome 2 open reading frame 48

Hs.454981 [show with all ESTs]

Unigene Representative Sequence: AK057831

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000381786(uc021vds.1)

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Additional cDNA sequence:

AK057831.1 BC093999.1 BC094001.1

4 DOTS entries:

DT.91892645 DT.101966823 DT.121027886 DT.91666184

24/609 AceView cDNA sequences (see all 609):

AA046748 BM848372 BQ677861 AA355709 BU183341 AI139965 AI970574 CR602150

CR625440 BG389514 AA779414 BE295916 AI065118 BP367765 H67307 AI124036

BM836045 BQ680820 BQ218653 BM468712 CR608076 BI226132 BE793326 CK818741

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf48 About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6a	·	6b	·	6c
SP1:											-		-
SP2:											-
SP3:											-		-		-
SP4:

ECgene alternative splicing isoforms for C2orf48

(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

C2orf48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

C2orf48 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

Primitive gut tube-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C2orf48 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.454981

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In Situ
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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 C2orf48 (if available)
TreeFam Gene Tree for C2orf48 (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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150065681^1,2		--	10279987(+)	`CTCCAA/GTGTTA`	1	--	us2k¹		0	--	--	--	--
rs185766100^1,2		--	10279994(+)	`GTTAAA/CGGAGC`	1	--	us2k¹		0	--	--	--	--
rs144426049^1,2		--	10280002(+)	`AGCAGG/TGGTCA`	1	--	us2k¹		0	--	--	--	--
rs73169305^1,2	C,F,	--	10280039(+)	`TTCACC/TGCCTG`	1	--	us2k¹		4		WA CSA	124
rs190193350^1,2		--	10280080(+)	`TTTTAA/CAAATC`	1	--	us2k¹		0	--	--	--	--
rs182406399^1,2		--	10280095(+)	`GAATGA/GCTGGG`	1	--	us2k¹		0	--	--	--	--
rs186794224^1,2		--	10280177(+)	`GAGACA/CATCCT`	1	--	us2k¹		0	--	--	--	--
rs191204141^1,2		--	10280465(+)	`CTTCGC/TTGGGG`	1	--	us2k¹		0	--	--	--	--
rs148402905^1,2		--	10280472(+)	`GGGGCA/GCAGCC`	1	--	us2k¹		0	--	--	--	--
rs142540712^1,2		--	10280560(+)	`TTTCTA/GTCTTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C2orf48 (10281509 - 10351856 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for C2orf48
3 CNVs: 8358 2367 9396
1 Indel: 45829

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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 C2orf48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C2orf48)

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)
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)

(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: 348738	HGNC: 26322	AceView: RRM2	Ensembl:ENSG00000163009	euGenes: HUgn348738
ECgene: C2orf48	H-InvDB: C2orf48

(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 C2orf48	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C2orf48 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C2orf48 gene:
Search GeneIP for patents involving C2orf48

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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C2orf48 Gene

chromosome 2 open reading frame 48

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C2orf48 Gene

chromosome 2 open reading frame 48

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