Details for: ODAPH

Gene ID: 152816

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: ODAPH

Ensembl ID: ENSG00000174792

Description: odontogenesis associated phosphoprotein

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • syncytiotrophoblast cell CL0000525
    CSI 3.76
    rCSI 10.84%
    PRS 99.86

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [ODAPH](/details-gene/152816) (Odontogenesis Associated Phosphoprotein) is a protein-coding gene located on chromosome 4q21.1. As an extracellular protein, [ODAPH](/details-gene/152816) plays a crucial role in biomineralization, particularly in tooth enamel development. Functional studies have demonstrated its involvement in hydroxyapatite crystal nucleation and growth, and mutations in this gene are causally linked to Amelogenesis Imperfecta, a hereditary condition causing defects in enamel formation ([Link](https://doi.org/10.1016/j.ajhg.2012.07.020), [Link](https://doi.org/10.1177/0022034516663200)). While its function in odontogenesis is established, expression data also suggest a significant presence in the [syncytiotrophoblast cell](/details-cell/CL0000525), indicating a potential, uncharacterized role in placental biology. ## Cellular Roles and Expression Landscape The expression profile of [ODAPH](/details-gene/152816) highlights its specialized function. In an **Overall** context, the gene shows its most significant expression in the [syncytiotrophoblast cell](/details-cell/CL0000525) (CSI: 3.76). Syncytiotrophoblasts are the primary epithelial barrier of the placenta, involved in nutrient exchange and hormone production. The high significance of [ODAPH](/details-gene/152816) in this cell type is intriguing given its well-characterized role in tooth enamel formation and suggests a possible function in placental mineralization or extracellular matrix organization, processes which can involve controlled calcium and phosphate deposition. ## Pathways and Molecular Function The known functions of [ODAPH](/details-gene/152816) are tightly linked to the development of mineralized tissues. Gene Ontology annotations confirm its participation in biological processes such as 'positive regulation of biomineral tissue development' ([GO:0070169](https://www.ebi.ac.uk/QuickGO/term/GO:0070169)) and, more specifically, 'positive regulation of enamel mineralization' ([GO:0070175](https://www.ebi.ac.uk/QuickGO/term/GO:0070175)). Its molecular function is annotated as 'protein binding' ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)), and it operates within the 'extracellular region' ([GO:0005576](https://www.ebi.ac.uk/QuickGO/term/GO:0005576)). This is consistent with its proposed mechanism of action, where it is secreted into the extracellular matrix to orchestrate the controlled nucleation and growth of hydroxyapatite crystals during enamel formation ([Link](https://doi.org/10.1016/j.ajhg.2012.07.020)). ## Research Directions The established role of [ODAPH](/details-gene/152816) in odontogenesis, combined with its significant expression in placental tissue, opens new avenues for investigation. The disparity between its well-characterized function and its expression landscape warrants further research. **Proposed Hypotheses:** 1. [ODAPH](/details-gene/152816) functions as a regulator of placental calcification, contributing to the structural integrity or mineral homeostasis of the placenta via its activity in [syncytiotrophoblast cells](/details-cell/CL0000525). Dysregulation of its expression may be associated with pathological placental calcification. 2. The protein-binding function of [ODAPH](/details-gene/152816) is not restricted to biomineralization but may also play a role in mediating cell-matrix interactions or binding to signaling molecules within the placental microenvironment. **Suggested Experimental Approach:** To test the hypothesis that [ODAPH](/details-gene/152816) is involved in placental calcification, one could first validate its expression and localization in human placental tissue sections using immunohistochemistry and *in situ* hybridization, confirming its presence in [syncytiotrophoblast cells](/details-cell/CL0000525). Subsequently, a functional study using a human trophoblast cell line (e.g., BeWo cells) could be performed. Knockdown of [ODAPH](/details-gene/152816) using shRNA, followed by culture in mineralization-inducing media, would allow for the assessment of changes in calcium deposition via Alizarin Red S staining and quantitative calcium assays. **Therapeutic Potential:** As loss-of-function mutations in [ODAPH](/details-gene/152816) are the direct cause of Amelogenesis Imperfecta, its therapeutic potential is primarily in the fields of regenerative medicine and gene therapy. It is not a candidate for traditional inhibition or activation. Strategies could involve the development of protein-based biomaterials incorporating recombinant [ODAPH](/details-gene/152816) to promote enamel regeneration or targeted gene-replacement therapies aimed at restoring functional protein expression in ameloblasts during tooth development.

Genular Protein ID: 2972502640

Symbol: ODAPH_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q17RF5 B4DTI3 E7ETQ0 Q8TEC3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 4 SMR 1 STRING 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 22901946

Title: Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

PubMed ID: 22901946

DOI: 10.1016/j.ajhg.2012.07.020

PubMed ID: 27558265

Title: Amelogenesis Imperfecta: 1 family, 2 phenotypes, and 2 mutated Genes.

PubMed ID: 27558265

DOI: 10.1177/0022034516663200

Sequence Information:

  • Length: 130
  • Mass: 15556
  • Checksum: 5E0FDD63FB5F2C75
  • Sequence:
    • MARRHCFSYW LLVCWLVVTV AEGQEEVFTP PGDSQNNADA TDCQIFTLTP PPAPRSPVTR 
AQPITKTPRC PFHFFPRRPR IHFRFPNRPF VPSRCNHRFP FQPFYWPHRY LTYRYFPRRR 
LQRGSSSEES

Genular Protein ID: 1389693098

Symbol: A0A087WV33_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WV33

Database IDs:

Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 Proteomes 2 RefSeq 1 SAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 85
  • Mass: 9651
  • Checksum: B745D3CE6AA44657
  • Sequence:
    • MARRHCFSYW LLVCWLVVTV AEGQEEVFTP PGDSQNNADA TDCQIFTLTP PPAPRSPVTR 
AQPITKTPRY FPRRRLQRGS SSEES