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Aliases for C4orf26 Gene

Aliases for C4orf26 Gene

  • Chromosome 4 Open Reading Frame 26 2 3 5
  • Amelogenesis Imperfecta Type IIA4 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 Hypomaturation Type.

UniProtKB/Swiss-Prot for C4orf26 Gene

  • Might promote nucleation of hydroxyapatite.

No data available for CIViC summary , 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

Enhancers for C4orf26 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G075561 0.8 ENCODE 16.8 +6.4 6421 1.3 PKNOX1 TEAD4 SIN3A MAX RBBP5 RAD21 YY1 CTBP1 GATA3 ZNF687 C4orf26 RCHY1 CDKL2
GH04G075722 1.4 ENCODE dbSUPER 9.6 +169.2 169233 5.1 HDGF FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CDKL2 C4orf26 USO1 G3BP2 GC04P075797
GH04G075701 1.1 ENCODE dbSUPER 10.1 +148.9 148907 5.1 TBP ARID4B DMAP1 RAD21 CREM MIXL1 CEBPB MIER2 PPARG MIER3 G3BP2 USO1 CDKL2 C4orf26 CCDC158 ENSG00000201644 GC04M075663
GH04G075629 0.9 ENCODE 10.2 +75.0 75032 1.7 PKNOX1 SIN3A ZNF2 GLIS2 FOS KLF7 SP3 REST ZNF610 GLIS1 C4orf26 G3BP2 CDKL2
GH04G075707 0.9 ENCODE dbSUPER 9.9 +152.9 152891 0.9 CTCF PKNOX1 TEAD1 TEAD4 TRIM22 REST RAD21 TEAD3 SMC3 PRDM1 CDKL2 C4orf26 G3BP2 USO1 GC04M075663 ENSG00000201644
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C4orf26 on UCSC Golden Path with GeneCards custom track

Genomic Location for C4orf26 Gene

Chromosome:
4
Start:
75,555,510 bp from pter
End:
75,565,893 bp from pter
Size:
10,384 bases
Orientation:
Plus strand

Genomic View for C4orf26 Gene

Genes around C4orf26 on UCSC Golden Path with GeneCards custom track

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

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 & Families for C4orf26 Gene

Protein Domains for C4orf26 Gene

InterPro:
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

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

Human Phenotype Ontology for C4orf26 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for C4orf26

CRISPR Products

Inhibitory RNA Products

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

Localization for C4orf26 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C4orf26 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C4orf26 gene
Compartment Confidence
extracellular 5

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 & Interactions for C4orf26 Gene

SuperPathways for C4orf26 Gene

No Data Available

Interacting Proteins for C4orf26 Gene

Selected Interacting proteins: Q17RF5-CD026_HUMAN for C4orf26 Gene via UniProtKB IID

Symbol External ID(s) Details
MDFI

Gene Ontology (GO) - Biological Process for C4orf26 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C4orf26 Gene

Drugs & Compounds for C4orf26 Gene

No Compound Related Data Available

Transcripts for C4orf26 Gene

Unigene Clusters for C4orf26 Gene

Chromosome 4 open reading frame 26:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x4.7) and Brain - Substantia nigra (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of C4orf26 Gene:

C4orf26

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.

Evidence on tissue expression from TISSUES for C4orf26 Gene

  • Intestine(4)
genes like me logo Genes that share expression patterns with C4orf26: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 97.95 (n)
C4orf26 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6H4orf26 34
  • 86.9 (n)
dog
(Canis familiaris)
Mammalia C32H4orf26 34
  • 80.46 (n)
mouse
(Mus musculus)
Mammalia Gm1045 34 16
  • 71.05 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911949 34
  • 70.43 (n)
Species where no ortholog for C4orf26 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs146645381 Pathogenic 75,564,364(+) TATTG(A/G)CCACA intron-variant, reference, missense, stop-gained
rs2306175 Benign 75,564,135(-) CAGGA(A/G)GCGTA nc-transcript-variant, reference, missense
rs1000094572 -- 75,564,826(+) AGAAA(C/T)TGATG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1000288026 -- 75,561,034(+) AACAC(A/G)GTGAA intron-variant
rs1000490226 -- 75,555,196(+) AATTC(C/T)TCTGA upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv594687 CNV loss 21841781
nsv7363 OTHER inversion 18451855

Variation tolerance for C4orf26 Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.42; 85.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C4orf26 Gene

Human Gene Mutation Database (HGMD)
C4orf26
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C4orf26

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

Disorders for C4orf26 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C4orf26 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iia4
  • amelogenesis imperfecta hypomaturation type 2a4
amelogenesis imperfecta hypomaturation type
  • aih
amelogenesis imperfecta
  • ai
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for C4orf26

Genetic Association Database (GAD)
C4orf26
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C4orf26
genes like me logo Genes that share disorders with C4orf26: view

No data available for Genatlas for C4orf26 Gene

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 64
  2. Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. (PMID: 27558265) Prasad M.K. … Bloch-Zupan A. (J. Dent. Res. 2016) 2 3 64
  3. Inactivation of C4orf26 in toothless placental mammals. (PMID: 26596502) Springer M.S. … Gatesy J. (Mol. Phylogenet. Evol. 2016) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Genomic determinants of motor and cognitive outcomes in Parkinson's disease. (PMID: 22658654) Chung S.J. … Maraganore D.M. (Parkinsonism Relat. Disord. 2012) 3 64

Products for C4orf26 Gene

Sources for C4orf26 Gene

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