1. Gene
  2. ODAPH - odontogenesis associated phosphoprotein Gene

ODAPH - odontogenesis associated phosphoprotein Gene

Homo sapiens

Also known as AI2A4; C4orf26

Gene ID: 152816 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
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

Related Diseases

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

Orthologs Information

Species Symbol Source 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