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Aliases for C4orf26 Gene

Aliases for C4orf26 Gene

  • Chromosome 4 Open Reading Frame 26 2 3
  • Uncharacterized Protein C4orf26 3
  • AI2A4 3

External Ids for C4orf26 Gene

Previous GeneCards Identifiers for C4orf26 Gene

  • GC04P076700
  • GC04P076481
  • GC04P072228

Summaries for C4orf26 Gene

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, type iia4 and amelogenesis imperfecta.

UniProtKB/Swiss-Prot for C4orf26 Gene

  • Might promote nucleation of hydroxyapatite.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C4orf26 Gene

Genomics for C4orf26 Gene

Regulatory Elements for C4orf26 Gene

Genomic Location for C4orf26 Gene

Start:
75,556,048 bp from pter
End:
75,565,893 bp from pter
Size:
9,846 bases
Orientation:
Plus strand

Genomic View for C4orf26 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C4orf26 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C4orf26 Gene

Proteins for C4orf26 Gene

  • Protein details for C4orf26 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q17RF5-CD026_HUMAN
    Recommended name:
    Uncharacterized protein C4orf26
    Protein Accession:
    Q17RF5
    Secondary Accessions:
    • B4DTI3
    • E7ETQ0
    • Q8TEC3

    Protein attributes for C4orf26 Gene

    Size:
    130 amino acids
    Molecular mass:
    15556 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C4orf26 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C4orf26 Gene

Proteomics data for C4orf26 Gene at MOPED

Post-translational modifications for C4orf26 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C4orf26 Gene

No data available for DME Specific Peptides for C4orf26 Gene

Domains for C4orf26 Gene

Protein Domains for C4orf26 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C4orf26: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C4orf26 Gene

Function for C4orf26 Gene

Molecular function for C4orf26 Gene

UniProtKB/Swiss-Prot Function: Might promote nucleation of hydroxyapatite.

Gene Ontology (GO) - Molecular Function for C4orf26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C4orf26: view

Phenotypes for C4orf26 Gene

GenomeRNAi human phenotypes for C4orf26:
genes like me logo Genes that share phenotypes with C4orf26: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for C4orf26 Gene

Localization for C4orf26 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C4orf26 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C4orf26 Gene COMPARTMENTS Subcellular localization image for C4orf26 gene
Compartment Confidence
extracellular 3

Gene Ontology (GO) - Cellular Components for C4orf26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C4orf26: view

Pathways for C4orf26 Gene

SuperPathways for C4orf26 Gene

No Data Available

Interacting Proteins for C4orf26 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000406925%0d%0a9606.ENSP00000230321%0d%0a
Selected Interacting proteins: ENSP00000406925 Q17RF5-CD026_HUMAN for C4orf26 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for C4orf26 Gene

None

No data available for Pathways by source for C4orf26 Gene

Transcripts for C4orf26 Gene

Unigene Clusters for C4orf26 Gene

Chromosome 4 open reading frame 26:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C4orf26

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for C4orf26
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C4orf26 Gene

No ASD Table

Relevant External Links for C4orf26 Gene

GeneLoc Exon Structure for
C4orf26
ECgene alternative splicing isoforms for
C4orf26

Expression for C4orf26 Gene

mRNA expression in normal human tissues for C4orf26 Gene

mRNA differential expression in normal tissues according to GTEx for C4orf26 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (4.7) and Brain - Substantia nigra (4.6).

SOURCE GeneReport for Unigene cluster for C4orf26 Gene Hs.24510

mRNA Expression by UniProt/SwissProt for C4orf26 Gene

Q17RF5-CD026_HUMAN
Tissue specificity: Highly expressed in placenta.
genes like me logo Genes that share expressions with C4orf26: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for C4orf26 Gene

Orthologs for C4orf26 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C4orf26 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4H4orf26 35
  • 97.95 (n)
  • 97.69 (a)
C4orf26 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6H4orf26 35
  • 86.9 (n)
  • 85.71 (a)
dog
(Canis familiaris)
Mammalia C32H4orf26 35
  • 80.46 (n)
  • 73.56 (a)
mouse
(Mus musculus)
Mammalia Gm1045 35
  • 71.05 (n)
  • 65.79 (a)
Gm1045 16
rat
(Rattus norvegicus)
Mammalia LOC100911949 35
  • 70.43 (n)
  • 60.48 (a)
Species with no ortholog for C4orf26:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C4orf26 Gene

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

Paralogs for C4orf26 Gene

Selected SIMAP similar genes for C4orf26 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C4orf26: view

No data available for Paralogs for C4orf26 Gene

Variants for C4orf26 Gene

Sequence variations from dbSNP and Humsavar for C4orf26 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs2014464 -- 75,561,043(+) aaacc(C/T)cgtct intron-variant
rs2061741 -- 75,554,756(+) agtgg(C/T)catcg upstream-variant-2KB
rs2061742 -- 75,555,670(+) CCTCC(A/G)GGTAA upstream-variant-2KB
rs2306173 -- 75,564,679(-) GTGAC(C/G)ATAAG utr-variant-3-prime, nc-transcript-variant
rs2306174 - 75,564,372(-) GGTAA(C/T)GGTGT missense, reference, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C4orf26 Gene

Variant ID Type Subtype PubMed ID
nsv7363 OTHER Inversion 18451855

Relevant External Links for C4orf26 Gene

HapMap Linkage Disequilibrium report
C4orf26
Human Gene Mutation Database (HGMD)
C4orf26

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C4orf26 Gene

Disorders for C4orf26 Gene

(1) OMIM Diseases for C4orf26 Gene (614829)

UniProtKB/Swiss-Prot

CD026_HUMAN
  • 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. {ECO:0000269 PubMed:22901946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for C4orf26 Gene

Relevant External Links for C4orf26

Genetic Association Database (GAD)
C4orf26
genes like me logo Genes that share disorders with C4orf26: view

Publications for C4orf26 Gene

  1. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. (PMID: 22901946) Parry D.A. … Mighell A.J. (Am. J. Hum. Genet. 2012) 2 3 4
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox C.S. … Atwood L.D. (BMC Med. Genet. 2007) 48
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for C4orf26 Gene

Sources for C4orf26 Gene

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