ODAPH - odontogenesis associated phosphoprotein Gene

Also Known as AI2A4; C4orf26

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 152816

About ODAPH

Cytogenetic location: 4q21.1 Genomic coordinates (GRCh38): 4:75,556,066-75,565,893 (from NCBI)

This gene has 5 transcripts (splice variants), 69 orthologues and is associated with 3 phenotypes. Biased expression in placenta (RPKM 1.1) and testis (RPKM 0.0).

Summary

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]

ODAPH Products (3)

mRNA	Protein	Name
NM_001206981.2	NP_001193910.1	odontogenesis associated phosphoprotein isoform 1 precursor
NM_001257072.2	NP_001244001.1	odontogenesis associated phosphoprotein isoform 3 precursor
NM_178497.5	NP_848592.2	odontogenesis associated phosphoprotein isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in positive regulation of biomineral tissue development	IMP IMP: Inferred from mutant phenotype	22901946	GOA
involved in positive regulation of enamel mineralization	IMP IMP: Inferred from mutant phenotype	22901946	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
odontogenesis associated phosphoprotein	amelogenesis imperfecta type IIA4

ODAPH Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	ODAPH	Q17RF5	LCN2	Homo sapiens	P80188	Y2H Array	32296183
Intra	ODAPH	Q17RF5	LCN2	Homo sapiens	P80188	Y2H Prey Pooling	32296183
Intra	ODAPH	Q17RF5	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	25416956
Intra	ODAPH	Q17RF5	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
Intra	ODAPH	Q17RF5	MDFI	Homo sapiens	Q99750	Y2H Array	25416956
Intra	ODAPH	Q17RF5	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	ODAPH	Q17RF5	MDFI	Homo sapiens	Q99750	Validated Y2H	25416956
Intra	ODAPH	Q17RF5	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	ODAPH	Q17RF5	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183
Intra	ODAPH	Q17RF5	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183
Intra	ODAPH	Q17RF5	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	AI2A4 Amelogenesis Imperfecta Hypomaturation Type 2a4 Amelogenesis Imperfecta, Type Iia4 Amelogenesis Imperfecta Hypomaturation Type Iia4 Amelogenesis Imperfecta Type Iia4 Amelogenesis Imperfecta, Hypomaturation Type, 2a4 Amelogenesis Imperfecta Pigmented Hypomaturation Type Iia4
Amelogenesis Imperfecta Hypomaturation Type	Aih Hypomaturation Amelogenesis Imperfecta Amelogenesis Imperfecta Type 2
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Immunodeficiency 9	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 Combined Immunodeficiency Due To Orai1 Deficiency IMD9 Cid Due To Orai1 Deficiency Severe Combined Immunodeficiency Due To Crac Channel Dysfunction Immunodeficiency, Type 9
Amelogenesis Imperfecta, Type Iiia	Ai3 Adhcai Amelogenesis Imperfecta Type 3 AI3A Amelogenesis Imperfecta, Type Iii Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant Amelogenesis Imperfecta Type 3a Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iii Hypocalcified Amelogenesis Imperfecta Amelogenesis Imperfecta, Type 3 Amelogenesis Imperfecta, Hypomineralization Type Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type Amelogenesis Imperfecta 3a Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis Imperfecta Hypomaturation Type 2a5 AI2A5 Amelogenesis Imperfecta, Type Iia5 Amelogenesis Imperfecta Hypomaturation Type Iia5 Amelogenesis Imperfecta Type Iia5 Amelogenesis Imperfecta, Hypomaturation Type, 2a5
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis Imperfecta Hypomaturation Type 2a2 AI2A2 Amelogenesis Imperfecta, Type Iia2 Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2 Amelogenesis Imperfecta Hypomaturation Type Iia2 Amelogenesis Imperfecta Type Iia2 Amelogenesis Imperfecta, Hypomaturation Type, 2a2 Amelogenesis Imperfecta 2 Hypocalcification Type
Exudative Vitreoretinopathy 3	EVR3
Trichodentoosseous Syndrome	Tricho-Dento-Osseous Syndrome Tdo Syndrome Trichodontoosseous Syndrome TDO Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis Imperfecta Hypomaturation Type 2a3 AI2A3 Amelogenesis Imperfecta Hypomaturation Type Iia3 Amelogenesis Imperfecta, Type Iia3 Amelogenesis Imperfecta Type Iia3 Amelogenesis Imperfecta, Hypomaturation Type, 2a3
Heimler Syndrome 1	Deafness Enamel Hypoplasia Nail Defects Heimler Syndrome HMLR1 Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects Peroxisome Biogenesis Disorder 1c Pbd1c Deafness-Enamel Hypoplasia-Nail Defects Syndrome Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities Peroxisomal Biogenesis Disorder 1c Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome Heimler, Syndrome Heimler Syndrome, Type 1
Jalili Syndrome	Cone-Rod Dystrophy And Amelogenesis Imperfecta Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome Cone-Rod Dystrophy Amelogenesis Imperfecta Cone-Rod Dystrophy With Amelogenesis Imperfecta JALIS Cone Rod Dystrophy Amelogenesis Imperfecta
Teeth Hard Tissue Disease
Tooth Ankylosis	Ankylosis Of Teeth Ankylosis Of Tooth
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Immunodeficiency 10	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 Combined Immunodeficiency Due To Stim1 Deficiency IMD10 Stim1 Deficiency Cid Due To Stim1 Deficiency Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2 Immunodeficiency, Type 10
T Cell And Nk Cell Immunodeficiency
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS09749	ODAPH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	ODAPH	RGD	RGD:6489816
Mus musculus	ODAPH	MGD	MGI:2685891
Bos taurus	ODAPH	VGNC	VGNC:107248
Canis familiaris	ODAPH	VGNC	VGNC:106607
Felis catus	ODAPH	VGNC	VGNC:107381
Others	ODAPH	NCBI