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] See more...

Aliases for ODAPH Gene

Aliases for ODAPH Gene

  • Odontogenesis Associated Phosphoprotein 2 3 4 5
  • Amelogenesis Imperfecta Type IIA4 2 3
  • C4orf26 3 4
  • Chromosome 4 Open Reading Frame 26 2
  • 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, Hypomaturation Type, Iia4 and Amelogenesis Imperfecta Hypomaturation Type.

UniProtKB/Swiss-Prot Summary for ODAPH Gene

Additional gene information for ODAPH Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ODAPH Gene

Genomics for ODAPH Gene

GeneHancer (GH) Regulatory Elements for ODAPH Gene

Promoters and enhancers for ODAPH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J075555 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 508 +0.3 283 1.2 CTCF JUND BCL11A FOXA2 CBFB FOS FOSL1 BATF POU2F2 NR2F1 ODAPH NONHSAG038225.2 ART3
GH04J075722 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.6 +169.6 169581 5.8 ZBTB40 EP300 CTCF NRF1 MYC POLR2G USF1 SP1 NCOR1 GTF2E2 USO1 G3BP2 RF00017-4332 lnc-G3BP2-1 NUP54 THAP6 SDAD1 CDKL2 PARM1-AS1 ODAPH
GH04J075629 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 10.2 +74.8 74791 2.6 ZNF217 EP300 USF1 SP1 ZNF10 ZIC2 FOS ZBTB26 SAP30 KLF4 CDKL2 G3BP2 ODAPH USO1 lnc-G3BP2-2
GH04J075561 Enhancer 0.8 Ensembl ENCODE 16.8 +6.4 6440 1.3 ZNF217 TEAD4 CUX1 CHD1 CTBP1 SIN3A ZNF592 MLLT1 NEUROD1 ELF1 ODAPH RCHY1 NONHSAG038225.2 lnc-ODAPH-2
GH04J075701 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.1 +148.9 148906 5.1 POLR2G NCOR1 TEAD4 SKI TEAD1 ZKSCAN8 HDAC2 ZNF341 TBP SAP130 G3BP2 USO1 CDKL2 ODAPH CCDC158 piR-61945-387 lnc-CDKL2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ODAPH on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ODAPH

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)
Size:
9,846 bases
Orientation:
Plus strand

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-ODAPH_HUMAN
    Recommended name:
    Odontogenesis associated phosphoprotein
    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:
genes like me logo Genes that share domains with ODAPH: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ODAPH Gene

Function for ODAPH Gene

Molecular function for ODAPH Gene

UniProtKB/Swiss-Prot Function:
May 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
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 4
plasma membrane 1
endoplasmic reticulum 1
golgi apparatus 1

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

PathCards logo

SuperPathways for ODAPH Gene

No Data Available

Gene Ontology (GO) - Biological Process for ODAPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070169 positive regulation of biomineral tissue development IMP 22901946
GO:0070175 positive regulation of enamel mineralization IMP 22901946
genes like me logo Genes that share ontologies with ODAPH: view

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

mRNA/cDNA for ODAPH Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for ODAPH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ODAPH

mRNA Expression by UniProt/SwissProt for ODAPH Gene:

Q17RF5-ODAPH_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 30
  • 97.95 (n)
C4orf26 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6H4orf26 30
  • 86.9 (n)
dog
(Canis familiaris)
Mammalia C32H4orf26 30
  • 80.46 (n)
mouse
(Mus musculus)
Mammalia Gm1045 30
  • 71.05 (n)
Odaph 17
rat
(Rattus norvegicus)
Mammalia LOC100911949 30
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ODAPH Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
788782 Benign: not provided 75,564,323(+) T/C MISSENSE_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
rs146645381 Pathogenic: Amelogenesis imperfecta, hypomaturation type IIA4 75,564,364(+) G/A MISSENSE_VARIANT,NONSENSE,INTRON_VARIANT
rs1560558455 Pathogenic: Amelogenesis imperfecta, hypomaturation type IIA4 75,556,133(+) GGTAAC/ATGCTGGTT FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1560562630 Pathogenic: Amelogenesis imperfecta, hypomaturation type IIA4 75,564,112(+) A/T SPLICE_ACCEPTOR_VARIANT
rs1560562738 Pathogenic: Amelogenesis imperfecta, hypomaturation type IIA4 75,564,175(+) C/A MISSENSE_VARIANT,NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ODAPH Gene

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)

Additional Variant Information for ODAPH Gene

Human Gene Mutation Database (HGMD)
ODAPH
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

(8) MalaCards diseases for ODAPH Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

ODAPH_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, ECO:0000269 PubMed:27558265}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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. Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. (PMID: 27558265) Prasad MK … Bloch-Zupan A (Journal of dental research 2016) 2 3 4 54
  2. 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 54
  3. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. (PMID: 30232004) Abraham CG … Espinosa JM (Cell reports 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Inactivation of C4orf26 in toothless placental mammals. (PMID: 26596502) Springer MS … Gatesy J (Molecular phylogenetics and evolution 2016) 3 54

Products for ODAPH Gene

Sources for ODAPH Gene