WDR72 - WD repeat domain 72 Gene

中文名称：WD 重复域 72

种属: Homo sapiens

同用名: AI2A3

基因 ID: 256764 | 基因类型: protein coding

关于 WDR72

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:53,513,741-53,762,878 (from NCBI)

This gene has 8 transcripts (splice variants), 130 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 35.1), thyroid (RPKM 25.6) and 3 other tissues.

功能概要

该基因编码一种具有八个 WD-40 重复序列的蛋白质。该基因的突变与 2A3 型釉质发育不全症发育不良有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 3 月]

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

WDR72 基因产物(2)

mRNA	Protein	Name
NM_001277176.2	NP_001264105.1	WD repeat-containing protein 72 isoform b
NM_182758.4	NP_877435.3	WD repeat-containing protein 72 isoform a

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	20938048	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

WDR72 蛋白结构

WD40

0
200
400
600
800
1000
1102 a.a.

蛋白主名

其他名称

WD repeat-containing protein 72

关联疾病

疾病名称

别名

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

Amelogenesis Imperfecta Hypomaturation Type

Aih	Hypomaturation Amelogenesis Imperfecta
Amelogenesis Imperfecta Type 2

Distal Renal Tubular Acidosis With Hemolytic Anemia

Renal Tubular Acidosis, Distal, With Hemolytic Anemia

Acidosis, Tubular, Renal, Distal, With Hemolytic Anemia

Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia

DRTA4	Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
Distal Renal Tubular Acidosis 4 With Hemolytic Anemia	Distal Renal Tubular Acidosis With Anemia
Drta With Anemia	Autosomal Recessive Distal Rta With Hemolytic Anemia
DRTA-NRC

Distal Renal Tubular Acidosis

Classic Rta	Familial Distal Primary Acidosis
Renal Tubular Acidosis Type 1	Drta
Renal Tubular Acidosis, Distal

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

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Hereditary Distal Renal Tubular Acidosis

Classic Renal Tubular Acidosis

Type 1 Rta

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

Retinitis Pigmentosa 4

RP4	Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive
Retinitis Pigmentosa, Rhodopsin-Related	Retinitis Pigmentosa, Type 4

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

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

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

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome	Tdo Syndrome
Trichodontoosseous Syndrome	TDO
Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Renal Tubular Acidosis

Acidosis Renal Tubular	Acidosis, Renal Tubular
Lightwood-Albright Syndrome	Lightwood Syndrome
Idiopathic Infantile Hypercalcemia - Mild Form	Kidney Tubular Acidosis
Renal Tubule Acidosis	Kidney Acidosis
Renal Acidosis	Renal Hyperchloremic Acidosis
Rta - [Renal Tubular Acidosis]

Teeth Hard Tissue Disease

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome	KTZS
Epilepsy And Yellow Teeth	Kohlschutter Tonz Syndrome
Kohlschutter Syndrome	Epilepsy Dementia Amelogenesis Imperfecta
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome	Epilepsy, Dementia, And Amelogenesis Imperfecta
Kohlschutter'S Syndrome	Kohlschütter-Tönz Syndrome
Kohlschuetter-Toenz Syndrome	Presenile Dementia
Dementia

Brachyolmia

Brachyrachia

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15793	WDR72 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	WDR72	VGNC	VGNC:48384
Bos taurus	WDR72	VGNC	VGNC:36916
Mus musculus	WDR72	MGD	MGI:3583957
Macaca mulatta	WDR72	VGNC	VGNC:79638
Felis catus	WDR72	VGNC	VGNC:67051
Rattus norvegicus	WDR72	RGD	RGD:1563550

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