1. Gene
  2. DSPP - dentin sialophosphoprotein Gene

DSPP - dentin sialophosphoprotein Gene

中文名称:牙本质涎磷蛋白

种属: Homo sapiens

同用名: DPP; DSP; DGI1; DMP3; DFNA39

基因 ID: 1834 | 基因类型: protein coding

关于 DSPP

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:87,608,529-87,616,873 (from NCBI)

This gene has 1 transcript (splice variant), 71 orthologues and is associated with 10 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码小整合素结合配体 N 连接糖蛋白 (SIBLING) 蛋白家族的成员。编码的前原蛋白由成牙本质细胞分泌并经过蛋白水解处理以产生牙齿的牙本质细胞外基质的两种主要蛋白质,牙本质唾液酸蛋白和牙本质磷蛋白。这两种蛋白质产物可能在牙本质矿化中发挥不同但相关的作用。该基因的突变与牙本质发育不全和牙本质发育不良有关。该基因存在于 4 号染色体上的基因簇中。已发现该基因因重复多态性而导致的等位基因差异。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jan 2016]

DSPP 基因产物(1)

mRNA Protein Name
NM_014208.3 NP_055023.2 dentin sialophosphoprotein preproprotein
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11856645 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

dentin sialophosphoprotein

deafness, autosomal dominant 39

关联疾病

疾病名称 别名
Dentinogenesis Imperfecta 1

Capdepont Teeth

Dentinogenesis Imperfecta Type 2

Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi-Ii

Dentinogenesis Imperfecta, Shields Type 2

DGI1

Opalescent Teeth Without Osteogenesis Imperfecta

Dentinogenesis Imperfecta, Shields Type Ii

Dgi-2

Di-2

DGI2

Dentinogenesis Imperfecta Shields Type Ii

Non-Syndromic Dentinogenesis Imperfecta

Non-Syndromic Dgi

Dentinogenesis Imperfecta, Shields Type Iii

Dentinogenesis Imperfecta Type 3

Brandywine Type Dentinogenesis Imperfecta

Dentinogenesis Imperfecta, Shields Type 3

Dgi-Iii

Dentinogenesis Imperfecta Shields Type 3

Dentinogenesis Imperfecta Type Iii

DGI3

Dentin Dysplasia, Type Ii

DTDP2

Coronal Dentin Dysplasia

Anomalous Dysplasia Of Dentin

Pulpal Dysplasia

Pulp Stones

Dentin Dysplasia, Coronal

Dd-Ii

Dentin Dysplasia Type Ii

Dentin Dysplasia, Shields Type Ii

Dentin Dyspalsia, Shields Type 2

Dentin Dysplasia 2

Dentin Dysplasia Shields Type Ii

Dysplasia, Dentin, Type 2

Dental Pulp Stone

Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1

Dfna39/Dentinogenesis Imperfecta 1 Syndrome

Dfna39/Dgi1 Syndrome

Dgi1/Dfna39 Syndrome

Deafness, Autosomal Dominant 39, With Dentinogenesis

Deafness, Autosomal Dominant, 39, With Dentinogenesis Imperfecta 1

DFNA39/DGI1

Deafness, Autosomal Dominant, Type 39, With Dentinogenesis

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Dentin Dysplasia, Type I

Radicular Dentin Dysplasia

DTDP1

Rootless Teeth

Dentin Dysplasia Type I

Dd-I

Dentin Dysplasia Shields Type I

Dentin Dysplasia, Shields Type I

Dentin Dysplasia, Type I, With Microdontia And Misshapen Teeth

Dentin Dysplasia, Type 1

Atypical Dentin Dysplasia Due To Smoc2 Deficiency

Dentin Dysplasia Type 1 With Microdontia And Shape Anomalies

Dentin Dysplasia, Radicular

Dentin Dysplasia 1

Dentin Dysplasia 1, With Extreme Microdontia And Misshapen Teeth

DTDP1-MMT

Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth

Dysplasia, Dentin, Type I

Dentin Dysplasia

Dentinal Dysplasia

Dd

Dysplasia, Dentin

Shell Teeth

Dentin Sensitivity

Sensitive Dentin

Root Caries

Cementum Caries

Dental Caries Of Root Surface

Tooth Resorption
Regional Odontodysplasia

Ghost Teeth

Odontodysplasia

Dental Pulp Necrosis

Pulp Necrosis

Necrotic Pulp

Necrosis Of The Pulp

Dead Pulp

Devitalised Pulp

Putrescent Pulpitis

Devitalized Tooth

Dental Pulp Gangrene

Pulp Gangrene

Nonvital Tooth

Pulpless Tooth

Putrescent Pulp

Dental Caries

Dental Caries Extending Into Pulp

Dental Caries Of Smooth Surface

Dental Caries Pit And Fissure

Smooth Surface Dental Caries

Dental Decay

Carious Teeth

Dental Cavity

Saprodontia

Teeth Decayed

Tooth Caries

Tooth Decay

Pulp Degeneration

Degeneration Of Dental Pulp

Periapical Periodontitis

Apical Periodontitis

Periodontitis Apical

Pulpitis

Pulp Stones

Pulpitis Nos

Root Resorption
Suppurative Periapical Periodontitis

Periapical Abscess

Apical Abscess

Suppurative Apical Periodontitis

Dentoalveolar Abscess

Dental Abscess With Sinus

Dentoalveolar Abscess With Sinus

Dental Sinus

Periapical Abscess Fistula

Apical Tooth Abscess

Apex Abscess

Dental Abscess Nos

Infection Of Tooth Nos

Abscess Of Tooth

Dental Infection Nos

Hypercementosis

Cementation Hyperplasia

Dens Evaginatus
Tooth Erosion

Generalized Erosion

Localized Erosion

Generalized Erosions

Erosion, Localized

Dental Pulp Calcification

Pulp Calcification

Pulp Calcifications

Pulpal Calcifications

Dental Pulp Stone

Gingival Recession

Localized Gingival Recession

Gingival Recession, Localized

Minimal Gingival Recession

Moderate Gingival Recession

Severe Gingival Recession

Gingival Recession, Minimal

Gingival Recession, Severe

Atrophy Of Gums

Gum Atrophy

Gingival Atrophy

Teeth, Fused

Fused Teeth

Odontoma
Dental Pulp Disease

Dental Pulp Diseases

Dental Pulp Disorder

Disorder Of Pulp Of Tooth

Pulp Disorder

Hypophosphatemia

Vitamin D-Resistant Rickets

Hereditary Hypophosphatemic Rickets

Vdrr

Vitamin D Resistant Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Familial Hypophosphatemic Rickets

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Hypophosphatasia

Phosphoethanolaminuria

Childhood Hypophosphatasia

Deficiency Of Alkaline Phosphatase

Hypophospatasia, Childhood

Hypophosphatasia Mild

Phosphoethanol-Aminuria

Rathburn Disease

Hpp

Rathbun Disease

Hypophosphatasia, Childhood

Infantile Hypophosphatasia

Taurodontism

Bull Teeth

Large Pulp Chambers In The Molars

Rickets

Vitamin D Deficiency

Vitamin D

Active Rickets

Hypovitaminosis D

Nutritional Rickets

Vitamin D Deficiency Disease

Vitamin-D Deficiency Rickets

Vitamin D-Dependent Rickets

Avitaminosis D

Infantile Osteomalacia

Juvenile Osteomalacia

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Teeth, Supernumerary

Supernumerary Teeth

Teeth Hard Tissue Disease
Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets

X-Linked Recessive Hypophosphatemic Rickets

XLRHR

Hypophosphatemic Rickets Disorders

Rickets Hypophosphatemic

Rickets, Hypophosphatemic, X-Linked Recessive

Familial Hypophosphatemic Rickets

Dentin Caries

Compound Dental Caries

Dental Caries Extending Into Dentine

Dental Caries Extending Into Dentin

Autosomal Recessive Hypophosphatemic Rickets

Arhr

Hypophosphatemic Rickets, Autosomal Recessive

Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I

EDSCL1

Ehlers-Danlos Syndrome Classic Type 1

Ehlers-Danlos Syndrome Type 1

Ehlers-Danlos Syndrome, Type I, Formerly

Eds1, Formerly

Ehlers-Danlos Syndrome, Severe Classic Type, Formerly

Eds I, Formerly

Ehlers-Danlos Syndrome, Gravis Type, Formerly

Ehlers-Danlos Syndrome, Type 1

Type I Ehlers-Danlos Syndrome

Eds1

Eds I

Ehlers-Danlos Syndrome, Gravis Type

Ehlers-Danlos Syndrome, Severe Classic Type

Ehlers-Danlos Syndrome 1

Ehlers-Danlos, Classic Syndrome, Type 1

Ehlers-Danlos Syndrome Type 2

Geotrichosis
Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4

Osteogenesis Imperfecta Type Iv

OI4

Oi, Type Iv

Osteogenesis Imperfecta With Normal Sclerae

Oi Type Iv

Oi Type 4

Osteogenesis Imperfecta With Normal Sclera

Common Variable Oi With Normal Sclerae

Osteogenesis Imperfecta 4

Oi-Iv

Hypophosphatemic Rickets, X-Linked Dominant

X-Linked Hypophosphatemia

Xlh

Vitamin D-Resistant Rickets, X-Linked

X-Linked Hypophosphatemic Rickets

XLHR

Hyp

Hypophosphatemic Vitamin D-Resistant Rickets

Hpdr

X-Linked Dominant Hypophosphatemic Rickets

Familial Hypophosphatemic Rickets

Hypophosphatemia, X-Linked

Hypophosphatemia, Vitamin D-Resistant Rickets

Hypophosphatemic Rickets X-Linked Dominant

X-Linked Vitamin D-Resistant Rickets

Hypophophatemia, X-Linked

Hypophophatemic Vitamin D-Resistant Rickets

Hypophosphatemia X-Linked

Vitamin D-Resistant Rickets X-Linked

Vitamin D-Resistant Rickets

Rickets, X-Linked Hypophosphatemic

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

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
Mus musculus DSPP MGD MGI:109172
Felis catus DSPP VGNC VGNC:78482
Bos taurus DSPP VGNC VGNC:106717
Rattus norvegicus DSPP RGD RGD:2525