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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C22orf39 Gene

protein-coding GIFtS: 41
GCID: GC22M019428

chromosome 22 open reading frame 39

Explore 2 diseases affiliated with
C22orf39 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 22 Open Reading Frame 39¹ ²
MGC74441¹
UPF0545 Protein C22orf39²

External Ids:	HGNC: 27012¹	Entrez Gene: 128977²	Ensembl: ENSG00000242259⁷	UniProtKB: Q6P5X5³

Export aliases for C22orf39 gene to outside databases

Previous GC identifers: GC22M017808 GC22M003049

(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_000022.10 NC_018933.1 NT_011519.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C22orf39 gene promoter:
Elk-1 AML1a AP-1 ATF-2 GATA-1 PPAR-gamma1 c-Jun PPAR-gamma2 Ik-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C22orf39

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C22orf39

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

Entrez Gene cytogenetic band: 22q11.21 Ensembl cytogenetic band: 22q11.21 HGNC cytogenetic band: 22q11.21

C22orf39 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C22orf39 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M019428: view genomic region (about GC identifiers)

Start:	19,338,891 bp from pter	End:	19,435,755 bp from pter
Size:	96,865 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: CV039_HUMAN, Q6P5X5 (See protein sequence)

Recommended Name: UPF0545 protein C22orf39

Size: 105 amino acids; 12540 Da

Sequence caution: Sequence=EAX03040.1; Type=Erroneous gene model prediction;

Secondary accessions: A8MTW6 D3DX18

Explore the universe of human proteins at neXtProt for C22orf39: NX_Q6P5X5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6P5X5

C22orf39 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001159714.1 NP_776154.3

ENSEMBL proteins:

ENSP00000424903 ENSP00000382478 ENSP00000333064 ENSP00000439212 ENSP00000382474

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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: Q6P5X5

UniProtKB/Swiss-Prot: CV039_HUMAN, Q6P5X5

Similarity: Belongs to the UPF0545 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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(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 C22orf39

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for C22orf39 (Q6P5X5^{2, 3} ENSP00000382474⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP2CB	P62714²^,³, ENSP00000221138⁴	MINT-8267140 I2D: score=2 STRING: ENSP00000221138

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 C22orf39
Search CenterWatch for drugs/clinical trials and news about C22orf39 / CV039

(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 C22orf39 gene (2 alternative transcripts):

NM_001166242.1 NM_173793.4

Unigene Cluster for C22orf39:

Chromosome 22 open reading frame 39

Hs.659565 [show with all ESTs]

Unigene Representative Sequence: AK095271

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

ENST00000509549(uc010grp.3) ENST00000399568 ENST00000333059 ENST00000542103(uc002zpi.3)

ENST00000399562(uc002zpk.2)

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Additional cDNA sequence:

AK095271.1 AK290073.1 BC030758.1 BC046204.1 BC062599.1 BX648073.1 CR456339.1

9 DOTS entries:

DT.440867 DT.95200588 DT.100703514 DT.100024516 DT.120652603 DT.75173115 DT.92434651 DT.100716790

DT.75169720

24/146 AceView cDNA sequences (see all 146):

AI676126 AI918998 BM762291 CB242419 AA282884 CR603677 BM273269 AI299129

AI384061 CR618542 BF725286 AI659204 AA129929 BE645397 BM142169 BI829441

BI914758 AA378258 AA613413 BE326695 NM_173793 BX646538 BQ063143 BM676417

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

C22orf39 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGTTAAAAT

About this image

C22orf39 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Secondary Spermatocyte

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C22orf39 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C22orf39

SOURCE GeneReport for Unigene cluster: Hs.659565

SABiosciences Custom PCR Arrays for C22orf39

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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 C22orf39 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	2510002D24Rik^{1 , 5}	RIKEN cDNA 2510002D24 gene^{1, 5}	83.81(n)¹ 72.38(a)¹		16 (11.67 cM)⁵ 72307¹ NM_001033164.2¹ NP_001028336.1¹ 18836578⁵
chicken (Gallus gallus)	Aves	C22orf39⁶	Uncharacterized protein	51(a)	1 ↔ 1	15(669165-670187)
lizard (Anolis carolinensis)	Reptilia	C22orf39⁶	--	47(a)	1 ↔ 1	GL343282.1(1470214-1470832)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-51h9.6¹	si:ch211-51h9.6	57.24(n) 48.48(a)		563100 NM_001123264.1 NP_001116736.1
fruit fly (Drosophila melanogaster)	Insecta	CG15908⁶	--	19(a)	1 ↔ 1	2R(2555655-2556243)

ENSEMBL Gene Tree for C22orf39 (if available)
TreeFam Gene Tree for C22orf39 (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 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs144877113^1,2		--	19427935(+)	`TCTAAA/GTCCTT`	1	--	int¹		0	--	--	--	--
rs142288819^1,2		--	19428005(+)	`CTGAGA/GTCCAC`	1	--	int¹		0	--	--	--	--
rs9604965^1,2	C,F,A,H,	--	19428077(+)	`TCTCCG/ACACAG`	1	--	int¹		13		NA WA CSA EA	376
rs183554817^1,2		--	19428126(+)	`TGGCTA/GCCTGC`	1	--	int¹		0	--	--	--	--
rs5746737^1,2	C,F,A,H,	--	19428145(+)	`GAATCT/GCATAC`	1	--	int¹		18		NS EA NA WA CSA	965
rs117707280^1,2	F,	--	19428178(+)	`CAGCAC/TCCGCT`	1	--	int¹		1		EA	120
rs186435359^1,2		--	19428343(+)	`AGTGTG/TTTTTT`	1	--	int¹		0	--	--	--	--
rs146228970^1,2		--	19428392(+)	`TTTGGC/TAGGTC`	1	--	int¹		0	--	--	--	--
rs138904728^1,2		--	19428441(+)	`AATTAC/TAGATT`	1	--	ut3¹		0	--	--	--	--
rs11744^1,2	C,F,H,	--	19428511(-)	`TAACAT/CTGGGG`	1	--	ut3¹		22		MN NA NS EA CSA WA	3003

HapMap Linkage Disequilibrium report for C22orf39 (19338891 - 19435755 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C22orf39
2 CNVs: 8901 31071

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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

C22orf39 for disorders About GeneDecksing

2 diseases for C22orf39: About MalaCards

ascariasis trichuriasis

Export disorders for C22orf39 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 C22orf39 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C22orf39)

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

A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Effects of chronic ascariasis and trichuriasis on cyt okine production and gene expression in human blood: a cross-sectional study. (PubMed id 21666788)¹ Reina Ortiz M....Cooper P.J. (2011)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
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)
The DNA sequence of human chromosome 22. (PubMed id 10591208)² Dunham I....O'Brien K.P. (1999)

(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: 128977	HGNC: 27012	AceView: LOC128977	Ensembl:ENSG00000242259	euGenes: HUgn128977
ECgene: C22orf39	H-InvDB: C22orf39

(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 C22orf39	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C22orf39 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C22orf39 gene:
Search GeneIP for patents involving C22orf39

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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About This Section


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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
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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

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C22orf39 gene at Home site.

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C22orf39 Gene

chromosome 22 open reading frame 39

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C22orf39 Gene

chromosome 22 open reading frame 39

Aliasesfor C22orf39 gene

Summariesfor C22orf39 gene

Genomic Viewsfor C22orf39 gene

Proteinsfor C22orf39 gene

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