WDR72 - WD repeat domain 72 Gene

Also Known as AI2A3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 256764

About 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.

Summary

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 Products (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

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20938048	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

WDR72 Protein Structure

WD40

0
200
400
600
800
1000
1102 a.a.

Protein Preferred Names	Protein Names
WD repeat-containing protein 72

Related Diseases

Diseases	Alias
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15793	WDR72 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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