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Aliases for ODAPH Gene

Aliases for ODAPH Gene

  • Odontogenesis Associated Phosphoprotein 2 3
  • C4orf26 3 4 5
  • Chromosome 4 Open Reading Frame 26 2 5
  • Amelogenesis Imperfecta Type IIA4 2 3
  • Uncharacterized Protein C4orf26 3
  • AI2A4 3

External Ids for ODAPH Gene

Previous HGNC Symbols for ODAPH Gene

  • C4orf26

Summaries for ODAPH Gene

Entrez Gene Summary for ODAPH 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 ODAPH Gene

ODAPH (Odontogenesis Associated Phosphoprotein) is a Protein Coding gene. Diseases associated with ODAPH include Amelogenesis Imperfecta, Type Iia4 and Amelogenesis Imperfecta Hypomaturation Type.

UniProtKB/Swiss-Prot for ODAPH Gene

  • Might promote nucleation of hydroxyapatite.

Additional gene information for ODAPH Gene

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

Genomics for ODAPH Gene

Regulatory Elements for ODAPH Gene

Enhancers for ODAPH 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
GH04H075722 1.4 ENCODE dbSUPER 9.6 +169.2 169233 5.1 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 SP5 CDKL2 ODAPH USO1 G3BP2 GC04P075797
GH04H075561 0.7 ENCODE 16.8 +6.4 6421 1.3 PKNOX1 SIN3A RFX5 CTBP1 GATA3 SMARCE1 ZNF687 NRF1 CHD1 CEBPB ODAPH RCHY1 CDKL2
GH04H075701 1.1 ENCODE dbSUPER 10.1 +148.9 148907 5.1 TBP ARID4B DMAP1 RAD21 RCOR1 CREM MIXL1 REST MIER2 PPARG G3BP2 USO1 CDKL2 ODAPH CCDC158 GC04M075663 ENSG00000201644
GH04H075629 0.9 ENCODE 10.2 +75.0 75032 1.7 PKNOX1 NFIB ZNF76 KLF17 SIN3A BMI1 ZNF2 ZEB1 RFX5 GLIS2 ODAPH G3BP2 CDKL2
GH04H075707 0.9 ENCODE dbSUPER 9.9 +152.9 152891 0.9 CTCF PKNOX1 TEAD1 TRIM22 REST RAD21 TEAD3 SMC3 ATF7 CDKL2 ODAPH G3BP2 USO1 ENSG00000201644 GC04M075663
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ODAPH on UCSC Golden Path with GeneCards custom track

Genomic Locations for ODAPH Gene

Genomic Locations for ODAPH Gene
chr4:75,555,510-75,565,893
(GRCh38/hg38)
Size:
10,384 bases
Orientation:
Plus strand
chr4:76,481,258-76,491,103
(GRCh37/hg19)

Genomic View for ODAPH Gene

Genes around ODAPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ODAPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ODAPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ODAPH Gene

Proteins for ODAPH Gene

  • Protein details for ODAPH 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 ODAPH Gene

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

    Alternative splice isoforms for ODAPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ODAPH Gene

Post-translational modifications for ODAPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ODAPH Gene

No data available for DME Specific Peptides for ODAPH Gene

Domains & Families for ODAPH Gene

Gene Families for ODAPH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for ODAPH Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ODAPH Gene

Function for ODAPH Gene

Molecular function for ODAPH Gene

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

Phenotypes From GWAS Catalog for ODAPH Gene

Gene Ontology (GO) - Molecular Function for ODAPH Gene

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

Phenotypes for ODAPH Gene

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

Human Phenotype Ontology for ODAPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

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

Localization for ODAPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ODAPH 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 ODAPH gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for ODAPH Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ODAPH Gene

Pathways & Interactions for ODAPH Gene

SuperPathways for ODAPH Gene

No Data Available

Interacting Proteins for ODAPH Gene

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

Symbol External ID(s) Details
MDFI

Gene Ontology (GO) - Biological Process for ODAPH Gene

None

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

Drugs & Compounds for ODAPH Gene

No Compound Related Data Available

Transcripts for ODAPH Gene

Clone Products

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

No ASD Table

Relevant External Links for ODAPH Gene

GeneLoc Exon Structure for
ODAPH
ECgene alternative splicing isoforms for
ODAPH

Expression for ODAPH Gene

NURSA nuclear receptor signaling pathways regulating expression of ODAPH Gene:

ODAPH

mRNA Expression by UniProt/SwissProt for ODAPH Gene:

Q17RF5-CD026_HUMAN
Tissue specificity: Highly expressed in placenta.

Evidence on tissue expression from TISSUES for ODAPH Gene

  • Intestine(4)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 ODAPH Gene

Orthologs for ODAPH Gene

This gene was present in the common ancestor of mammals.

Orthologs for ODAPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4H4orf26 33
  • 97.95 (n)
C4orf26 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6H4orf26 33
  • 86.9 (n)
dog
(Canis familiaris)
Mammalia C32H4orf26 33
  • 80.46 (n)
mouse
(Mus musculus)
Mammalia Gm1045 33
  • 71.05 (n)
Odaph 16
rat
(Rattus norvegicus)
Mammalia LOC100911949 33
  • 70.43 (n)
Species where no ortholog for ODAPH 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 ODAPH Gene

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

Paralogs for ODAPH Gene

No data available for Paralogs for ODAPH Gene

Variants for ODAPH Gene

Sequence variations from dbSNP and Humsavar for ODAPH 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 ODAPH Gene

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

Variation tolerance for ODAPH 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 ODAPH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ODAPH

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

Disorders for ODAPH Gene

MalaCards: The human disease database

(3) MalaCards diseases for ODAPH 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
Search ODAPH in MalaCards View complete list of genes associated with diseases

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 ODAPH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ODAPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ODAPH
genes like me logo Genes that share disorders with ODAPH: view

No data available for Genatlas for ODAPH Gene

Publications for ODAPH Gene

  1. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. (PMID: 22901946) Parry DA … Mighell AJ (American journal of human genetics 2012) 2 3 4 60
  2. Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. (PMID: 27558265) Prasad MK … Bloch-Zupan A (Journal of dental research 2016) 2 3 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Inactivation of C4orf26 in toothless placental mammals. (PMID: 26596502) Springer MS … Gatesy J (Molecular phylogenetics and evolution 2016) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for ODAPH Gene

Sources for ODAPH Gene

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