1. Gene
  2. ODAPH - odontogenesis associated phosphoprotein Gene

ODAPH - odontogenesis associated phosphoprotein Gene

中文名称:牙发生相关磷蛋白

种属: Homo sapiens

同用名: AI2A4; C4orf26

基因 ID: 152816 | 基因类型: protein coding

关于 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).

功能概要

牙釉质形成牙齿的外层,是脊椎动物中发现的最坚硬的物质。该基因被认为编码一种细胞外基质酸性磷蛋白,该蛋白在釉质形成过程中具有釉质矿化作用。该基因的突变与隐性低矿化牙釉质发育不全有关。[RefSeq 提供,2012 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of biomineral tissue development IMP
IMP: 通过突变表型推断
22901946 GOA
involved in positive regulation of enamel mineralization IMP
IMP: 通过突变表型推断
22901946 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

odontogenesis associated phosphoprotein

amelogenesis imperfecta type IIA4

ODAPH 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ODAPH Q17RF5 LCN2 Homo sapiens P80188
Y2H Array
32296183
种属内
ODAPH Q17RF5 LCN2 Homo sapiens P80188
Y2H Prey Pooling
32296183
种属内
ODAPH Q17RF5 MDFI Homo sapiens Q99750
Y2H Prey Pooling
25416956
种属内
ODAPH Q17RF5 MDFI Homo sapiens Q99750
Validated Y2H
32296183
种属内
ODAPH Q17RF5 MDFI Homo sapiens Q99750
Y2H Array
25416956
种属内
ODAPH Q17RF5 MDFI Homo sapiens Q99750
Y2H Array
32296183
种属内
ODAPH Q17RF5 MDFI Homo sapiens Q99750
Validated Y2H
25416956
种属内
ODAPH Q17RF5 MDFI Homo sapiens Q99750
Y2H Prey Pooling
32296183
种属内
ODAPH Q17RF5 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
种属内
ODAPH Q17RF5 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
种属内
ODAPH Q17RF5 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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