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C4orf26 Gene

protein-coding   GIFtS: 42
GCID: GC04P076481

Chromosome 4 Open Reading Frame 26

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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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 4 Open Reading Frame 261 2
Uncharacterized Protein C4orf262

External Ids:    HGNC: 263001   Entrez Gene: 1528162   Ensembl: ENSG000001747927   OMIM: 6148295   UniProtKB: Q17RF53   
ORGUL members:         

Export aliases for C4orf26 gene to outside databases

Previous GC identifers: GC04P076700 GC04P072228


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for C4orf26 Gene:
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought
to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during
amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta.
(provided by RefSeq, Oct 2012)

GeneCards Summary for C4orf26 Gene:
C4orf26 (chromosome 4 open reading frame 26) is a protein-coding gene. Diseases associated with C4orf26 include amelogenesis imperfecta, hypomaturation type, iia4, and amelogenesis imperfecta, type iia1.

UniProtKB/Swiss-Prot: CD026_HUMAN, Q17RF5
Function: Might promote nucleation of hydroxyapatite




(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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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the C4orf26 gene promoter:
         FOXI1   HFH-3   AML1a   HSF2   Pax-2   Pax-2a   GATA-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C4orf26

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C4orf26


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

Entrez Gene cytogenetic band: 4q21.1   Ensembl cytogenetic band:  4q21.1   HGNC cytogenetic band: 4q21.1

C4orf26 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4orf26 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P076481:  view genomic region     (about GC identifiers)

Start:
76,481,258 bp from pter      End:
76,491,103 bp from pter
Size:
9,846 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CD026_HUMAN, Q17RF5 (See protein sequence)
Recommended Name: Uncharacterized protein C4orf26 precursor  
Size: 130 amino acids; 15556 Da
Secondary accessions: B4DTI3 E7ETQ0 Q8TEC3
Alternative splicing: 2 isoforms:  Q17RF5-1   Q17RF5-2   (No experimental confirmation available. Ref.1 (BAG61995) sequence is in conflict in position: 45:L->F)

Explore the universe of human proteins at neXtProt for C4orf26: NX_Q17RF5

Explore proteomics data for C4orf26 at MOPED


See C4orf26 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001193910.1  NP_001244001.1  NP_848592.2  

ENSEMBL proteins: 
 ENSP00000421429   ENSP00000311307   ENSP00000406925  

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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: Q17RF5


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CD026_HUMAN, Q17RF5
Function: Might promote nucleation of hydroxyapatite

Phenotypes:
     1 GenomeRNAi human phenotype for C4orf26:

 Increased G2M DNA content, inc 

Animal Models:
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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
CD026_HUMAN, Q17RF5: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3

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

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

C4orf26 for ontologies           About GeneDecksing


(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 C4orf26
Interactions:

    Search GeneGlobe Interaction Network for C4orf26

(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 C4orf26 (CD026)



(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C4orf26 gene (3 alternative transcripts): 
NM_001206981.1  NM_001257072.1  NM_178497.3  

Unigene Cluster for C4orf26:

Chromosome 4 open reading frame 26
Hs.24510  [show with all ESTs]
Unigene Representative Sequence: NM_001206981
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000514064 ENST00000511093(uc011cbn.2) ENST00000311623(uc011cbo.2 uc003hip.2)
ENST00000435974

miRNA
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Selected qRT-PCR Assays for microRNAs that regulate C4orf26 (see all 9):
hsa-miR-15a hsa-miR-497 hsa-miR-624 hsa-miR-424 hsa-miR-651 hsa-miR-195 hsa-miR-16 hsa-miR-450b-5p
SwitchGear 3'UTR luciferase reporter plasmidC4orf26 3' UTR sequence
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  QuantiFast Probe-based Assays in human, mouse, rat C4orf26

Additional mRNA sequence: 

AK074237.1 AK172776.1 AK300227.1 BC061701.1 BC117342.1 BC144003.1 BC144005.1 NR_046429.1 
NR_046430.1 

2 DOTS entries:

DT.101976774  DT.75100465 

19 AceView cDNA sequences:

CR620658 BX089617 BC061701 AI189893 AI911277 NM_178497 AK074237 AK172776 
AI126234 N57127 AI770074 BG573277 CB993621 N30235 BX377852 AI476788 
R32248 BX351427 R77083 

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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C4orf26 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
C4orf26 Expression
About this image

C4orf26 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C4orf26 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.24510

UniProtKB/Swiss-Prot: CD026_HUMAN, Q17RF5
Tissue specificity: Highly expressed in placenta

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C4orf26

(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 mouse.

Orthologs for C4orf26 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm10451 , 5 predicted gene 10451, 5 71.05(n)1
65.79(a)1
  5 (45.68 cM)5
3816511  NM_001177577.11  NP_001171048.11 
 919874735 


ENSEMBL Gene Tree for C4orf26 (if available)
TreeFam Gene Tree for C4orf26 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C4orf26 gene
1 SIMAP similar gene for C4orf26 using alignment to 2 protein entries:     CD026_HUMAN (see all proteins):
COX4I1

C4orf26 for paralogs           About GeneDecksing



(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 C4orf26 (see all 315)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1809516931,2
--76298028(+) TGACCC/TGTTGA 5 -- us2k10--------
rs1851822511,2
--76298088(+) GTCCTC/TCCCCT 5 -- us2k10--------
rs170006371,2
C,F,H--76298091(+) CTTCCT/CCTCTC 5 -- us2k1 trp323Minor allele frequency- C:0.35NA NS EA WA CSA 1320
rs1910430101,2
--76298110(+) CAAAAC/TGCTTT 5 -- us2k10--------
rs349447031,2
C,F--76298196(+) CCAGCA/TCCTTG 5 -- us2k110Minor allele frequency- T:0.40NA WA CSA EA 372
rs170006391,2
C,F,H--76298260(+) GGGTAG/ATCTAA 5 -- us2k112Minor allele frequency- A:0.06NA NS EA WA 784
rs170006401,2
C,F--76298345(+) CTGGAA/GGTTTG 5 -- us2k15Minor allele frequency- G:0.02NA WA 262
rs1465938411,2
--76298350(+) AGTTTG/TCCTAG 5 -- us2k10--------
rs1838472821,2
C--76298431(+) TTCAGG/TTTGCA 5 -- us2k10--------
rs117289301,2
C,F,H--76298543(+) TTCTGC/TTTAAA 5 -- us2k123Minor allele frequency- T:0.25NS EA NA WA CSA 2323

HapMap Linkage Disequilibrium report for C4orf26 (76481258 - 76491103 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C4orf26:    About this table    
Variant IDTypeSubtypePubMed ID
nsv7363OTHER Inversion18451855

Human Gene Mutation Database (HGMD): C4orf26
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C4orf26
DNA2.0 Custom Variant and Variant Library Synthesis for C4orf26

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614829   
OMIM disorders: 614832  
UniProtKB/Swiss-Prot: CD026_HUMAN, Q17RF5
  • Amelogenesis imperfecta, hypomaturation type, 2A4 (AI2A4) [MIM:614832]: A defect of enamel formation. The
    disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the
    enamel is softer than normal. Brown pigment is present in middle layers of enamel. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for C4orf26:    
    About MalaCards
    amelogenesis imperfecta, hypomaturation type, iia4    amelogenesis imperfecta, type iia1    amelogenesis imperfecta hypomaturation type    amelogenesis imperfecta
    parkinson's disease    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for C4orf26:
    Amelogenesis imperfecta

    C4orf26 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): C4orf26

    Export disorders for C4orf26 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 C4orf26 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C4orf26)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. (PubMed id 22901946)1, 2, 3 Parry D.A.... Mighell A.J. (Am. J. Hum. Genet. 2012)
    2. Genomic determinants of motor and cognitive outcomes in Parkinson's disease. (PubMed id 22658654)1 Chung S.J....Maraganore D.M. (amp 2012)
    3. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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: 152816 HGNC: 26300 AceView: FLJ23657 Ensembl:ENSG00000174792 euGenes: HUgn152816
    ECgene: C4orf26 H-InvDB: C4orf26

    (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 C4orf26 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 C4orf26 gene:
    Search GeneIP for patents involving C4orf26

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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