WDR73 - WD repeat domain 73 Gene

Also Known as GAMOS; GAMOS1; HSPC264

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84942

About WDR73

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:84,639,285-84,654,283 (from NCBI)

This gene has 21 transcripts (splice variants), 190 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 6.8), prostate (RPKM 5.3) and 25 other tissues.

Summary

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 Amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during Mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

WDR73 Products (1)

mRNA	Protein	Name
NM_032856.5	NP_116245.2	WD repeat-containing protein 73

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in cytoplasmic microtubule organization	IMP IMP: Inferred from mutant phenotype	25466283	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	25466283	GOA
involved in nucleus organization	IMP IMP: Inferred from mutant phenotype	25466283	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with cleavage furrow	IDA IDA: Inferred from direct assay	25466283	GOA
colocalizes with cytosol	IDA IDA: Inferred from direct assay	25466283	GOA
colocalizes with spindle pole	IDA IDA: Inferred from direct assay	25466283	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
WD repeat-containing protein 73	FLJ00296 protein

WDR73 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810108	WDR73 Antibody (YA9452)	WB, IP, ELISA	human

Related Diseases

Diseases	Alias
Galloway-Mowat Syndrome 1	Galloway Syndrome Nephrosis-Neuronal Dysmigration Syndrome Nephrosis-Microcephaly Syndrome Camos Scar5 GAMOS1 Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Microcephaly, Hiatal Hernia And Nephrotic Syndrome Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly Scar5, Formerly Spinocerebellar Ataxia Autosomal Recessive 5 Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities Camos Syndrome Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome Galloway-Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 5 Galloway Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive 5
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Cerebellar Hypoplasia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Galloway-Mowat Syndrome 2
Bladder Calculus	Urinary Bladder Calculi Urinary Bladder Stone Bladder Calculi Bladder Stone Urinary Bladder Calculus Vesical Calculi Vesical Calculus Vesicolithiasis Cystolithiasis Cystic Calculi Cystic Calculus
Lower Urinary Tract Calculus	Calculus Of Lower Urinary Tract
Partial Optic Atrophy
Hernia, Hiatus	Hiatal Hernia Hiatus Hernia Diaphragmatic - Hiatus -Hernia Hernia, Hiatal
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Polymicrogyria	Pmg
Frasier Syndrome	FS
Peho Syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy Infantile Cerebellooptic Atrophy PEHO Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy Progressive Encephalopathy-Optic Atrophy Syndrome
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Interstitial Nephritis, Karyomegalic	Karyomegalic Interstitial Nephritis KMIN Kin Systemic Karyomegaly Karyomegalic Tubulointerstitial Nephritis Ktn

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-RS15794	WDR73 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	WDR73	RGD	RGD:1306429
Canis familiaris	WDR73	VGNC	VGNC:48385
Mus musculus	WDR73	MGD	MGI:1919218
Felis catus	WDR73	VGNC	VGNC:67052
Macaca mulatta	WDR73	VGNC	VGNC:79558
Bos taurus	WDR73	VGNC	VGNC:36917