WDR73 WD repeat domain 73 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR73provided by HGNC
Official Full Name: WD repeat domain 73provided by HGNC
Primary source: HGNC:HGNC:25928
See related: Ensembl:ENSG00000177082 MIM:616144; AllianceGenome:HGNC:25928
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAMOS; GAMOS1; HSPC264
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]
Expression: Ubiquitous expression in thyroid (RPKM 6.8), prostate (RPKM 5.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (84639285..84654283, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (82391705..82406696, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (85182516..85197514, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
Title: Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
A new homozygous missense mutation was identified in two siblings with Galloway-Mowat syndrome.
Title: WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip.
Title: Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
WDR73 as a candidate gene of severe intellectual disability and cerebellar hypoplasia.
Title: WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration.
Title: WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome
Title: Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
WDR73 interacts with mitotic microtubules to regulate cell cycle progression, proliferation and survival in brain
Title: Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
WDR73 plays a crucial role in the maintenance of cell architecture and cell survival.
Title: Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Galloway-Mowat syndrome 1 MedGen: C4551772 OMIM: 251300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2279 (e-PCR)
- UniSTS:473907

D11S3114 (e-PCR)
- UniSTS:152207

D2S2557 (e-PCR)
- UniSTS:52659

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoplasmic microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleus organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with cleavage furrow	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cytosol	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with cytosol	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with spindle pole	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 73

Names: FLJ00296 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042034.2 RefSeqGene

Range

5000..19998

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032856.5 → NP_116245.2 WD repeat-containing protein 73

See identical proteins and their annotated locations for NP_116245.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the protein.

Source sequence(s)

AC048382

Consensus CDS

CCDS45339.1

UniProtKB/Swiss-Prot

Q6P4I2, Q96JZ1, Q9P0B7

UniProtKB/TrEMBL

Q6PJL8

Related

ENSP00000387982.3, ENST00000434634.7

Conserved Domains (2) summary

COG2319
Location:238 → 370

WD40; WD40 repeat [General function prediction only]

sd00039
Location:279 → 329

7WD40; WD40 repeat [structural motif]

RNA

NR_130944.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC048382, AK055578, AK225068, BC014115, BC050648, BM050710, BM875282, CX867053
NR_130945.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC048382, AK225068, BC014115, BC050648, BM050710, BM875282, BX446522, CN481562, CX867053
NR_130946.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in its 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC048382, BC014115, BC050648, BM050710, BM875282, CX867053
NR_130947.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC048382, AK225068, BC014115, BC050648, BM050710, BM875282, CD514627, CX867053