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C5orf38 Gene

protein-coding   GIFtS: 34
GCID: GC05P002752

Chromosome 5 Open Reading Frame 38

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 5 Open Reading Frame 381 2     Coordinated Expression To IRXA2 Protein2 3
CEI2 3 5     IRX2NB2
Coordinated Expression To IRX21 2     Coordinated Expression To IRXA2 Homeobox2
IRX2 Neighbor1 2     Protein CEI2

External Ids:    HGNC: 242261   Entrez Gene: 1535712   Ensembl: ENSG000001864937   OMIM: 6105225   UniProtKB: Q86SI93   

Export aliases for C5orf38 gene to outside databases

Previous GC identifer: GC05P002806


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C5orf38 Gene:
C5orf38 (chromosome 5 open reading frame 38) is a protein-coding gene.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the C5orf38 gene promoter:
         Nkx2-5   CUTL1   c-Ets-1   PPAR-gamma1   POU2F1   COMP1   POU2F1a   AP-2beta   PPAR-gamma2   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C5orf38 promoter sequence
   Search Chromatin IP Primers for C5orf38

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf38


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

Entrez Gene cytogenetic band: 5p15.33   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.33

C5orf38 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf38 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P002752:  view genomic region     (about GC identifiers)

Start:
2,752,245 bp from pter      End:
2,755,511 bp from pter
Size:
3,267 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CEI_HUMAN, Q86SI9 (See protein sequence)
Recommended Name: Protein CEI precursor  
Size: 138 amino acids; 15091 Da
Miscellaneous: According to PubMed:16515847, this gene is only represented in primates genome and it is highly
conserved. Also found in bats (according to Ensembl)
Alternative splicing: 3 isoforms:  Q86SI9-1   Q86SI9-2   Q86SI9-3   

Explore the universe of human proteins at neXtProt for C5orf38: NX_Q86SI9

Explore proteomics data for C5orf38 at MOPED


See C5orf38 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_848664.1  
ENSEMBL proteins: 
 ENSP00000408820   ENSP00000334267   ENSP00000424088   ENSP00000425109   ENSP00000426967  
 ENSP00000426001   ENSP00000380935  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q86SI9


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C5orf38
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CEI_HUMAN, Q86SI9: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
mitochondrion2
cytosol1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

Find genes that share ontologies with C5orf38           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C5orf38
Interactions:

    Search GeneGlobe Interaction Network for C5orf38

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C5orf38 (CEI)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C5orf38 gene: 
NM_178569.2  

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000457752 ENST00000334000(uc003jdc.3 uc011cmg.2 uc011cmh.2 uc011cmi.2)
ENST00000505106 ENST00000503940 ENST00000505778 ENST00000515640 ENST00000397835(uc011cmj.2)

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9 AceView cDNA sequences:

AY249325 AI939394 BF198131 NM_178569 CA423794 AI658712 AI199712 BX090247 
BG479754 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C5orf38 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACCTGGATC
C5orf38 Expression
About this image

C5orf38 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C5orf38 Protein Expression

UniProtKB/Swiss-Prot: CEI_HUMAN, Q86SI9
Tissue specificity: Isoform 1 is highly expressed in small intestine, testis and kidney, medium expressed in brain
and heart and low expressed in colon; it could not be detected in liver, adrenal gland and pancreas

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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)
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This gene was present in the common ancestor of human and chimp.

Orthologs for C5orf38 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia C5H5orf381 chromosome 5 open reading frame, human C5orf38 99.03(n)
97.83(a)
  743069  XM_001142828.2  XP_001142828.1 


ENSEMBL Gene Tree for C5orf38 (if available)
TreeFam Gene Tree for C5orf38 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C5orf38 (see all 67)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs617424051,2
C,F--2725949(+) TCCCGC/GGTGGC 1 -- us2k14Minor allele frequency- G:0.02NS WA NA EU 6029
rs2014095421,2
--2725955(+) GTGGCA/GTTCTT 1 -- us2k10--------
rs1384132791,2
C,F--2725979(+) TCGTTG/CAGCTG 1 -- us2k11Minor allele frequency- C:0.00NA 4540
rs1429720781,2
C--2726002(+) CGCGCT/CGCCGT 1 -- us2k11Minor allele frequency- C:0.00NA 4534
rs1390168981,2
C,F--2726029(+) GGCGCC/TGGTCA 1 -- us2k11Minor allele frequency- T:0.00NA 4526
rs1492453921,2
C,F--2726063(+) GGTGCG/TCCCTG 1 -- us2k12Minor allele frequency- T:0.01NA EU 5359
rs1998584951,2
C--2726100(+) TATGCA/GGAGAC 1 -- us2k10--------
rs2014559021,2
C--2726109(+) ACCCCA/GCGGGC 1 -- us2k10--------
rs786204181,2
C--2726323(+) TAAGTA/GTTCCG 1 -- us2k10--------
rs760228141,2
C--2726325(+) AGTGTA/TCCGGA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C5orf38 (2752245 - 2755511 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C5orf38:    About this table    
Variant IDTypeSubtypePubMed ID
nsv461913CNV Loss19166990
nsv822977CNV Gain20364138
dgv931n67CNV Gain20364138
nsv822972CNV Gain20364138

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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.)
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OMIM gene information: 610522    OMIM disorders: --

1 disease from the University of Copenhagen DISEASES database for C5orf38:
Hypertension

Find genes that share disorders with C5orf38           About GenesLikeMe

Genetic Association Database (GAD): C5orf38
Human Genome Epidemiology (HuGE) Navigator: C5orf38 (1 document)

Export disorders for C5orf38 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)
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PubMed articles for C5orf38 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C5orf38)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens. (PubMed id 16515847)1, 2, 3 Wu Q.... Hansen L. (Gene 2006)
  2. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PubMed id 17362836)4 Schymick J.C....Traynor B.J. (Lancet Neurol 2007)
  3. 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. (Genome Res. 2004)
  4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 153571 HGNC: 24226 AceView: CEI Ensembl:ENSG00000186493 euGenes: HUgn153571
ECgene: C5orf38 H-InvDB: C5orf38

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C5orf38 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C5orf38 gene:
Search GeneIP for patents involving C5orf38

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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The GeneCards human gene database gene index: 1 3 5 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 


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

Hot genes      Disease genes      C5orf38 gene at Home site.
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