Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51398
Gene name	WD repeat domain 83 opposite strand
Gene symbol	WDR83OS
Synonyms (NCBI Gene)	ASTERIXC19orf56NEDFHCAPAT-10PAT10PTD008
Chromosome	19
Chromosome location	19p13.13

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028781	hsa-miR-26b-5p	Microarray	19088304
MIRT049445	hsa-miR-92a-3p	CLASH	23622248
MIRT689265	hsa-miR-8066	HITS-CLIP	23313552
MIRT689264	hsa-miR-4524b-3p	HITS-CLIP	23313552
MIRT689263	hsa-miR-3681-5p	HITS-CLIP	23313552
MIRT689262	hsa-miR-6849-5p	HITS-CLIP	23313552
MIRT689261	hsa-miR-4501	HITS-CLIP	23313552
MIRT689260	hsa-miR-4698	HITS-CLIP	23313552
MIRT689259	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689258	hsa-miR-5191	HITS-CLIP	23313552
MIRT689257	hsa-miR-376b-5p	HITS-CLIP	23313552
MIRT689256	hsa-miR-376c-5p	HITS-CLIP	23313552
MIRT689265	hsa-miR-8066	HITS-CLIP	23313552
MIRT689264	hsa-miR-4524b-3p	HITS-CLIP	23313552
MIRT689263	hsa-miR-3681-5p	HITS-CLIP	23313552
MIRT689262	hsa-miR-6849-5p	HITS-CLIP	23313552
MIRT689261	hsa-miR-4501	HITS-CLIP	23313552
MIRT689260	hsa-miR-4698	HITS-CLIP	23313552
MIRT689259	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689258	hsa-miR-5191	HITS-CLIP	23313552
MIRT689257	hsa-miR-376b-5p	HITS-CLIP	23313552
MIRT689256	hsa-miR-376c-5p	HITS-CLIP	23313552

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814900, 35271311
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12475939, 32814900
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006457	Process	Protein folding	IEA
GO:0016020	Component	Membrane	IEA
GO:0044183	Function	Protein folding chaperone	IBA
GO:0044183	Function	Protein folding chaperone	IDA	32814900
GO:0044183	Function	Protein folding chaperone	IEA
GO:0045048	Process	Protein insertion into ER membrane	IBA
GO:0045048	Process	Protein insertion into ER membrane	IDA	32814900
GO:0045048	Process	Protein insertion into ER membrane	IEA
GO:0101031	Component	Protein folding chaperone complex	IPI	32814900
GO:0160063	Process	Multi-pass transmembrane protein insertion into ER membrane	IDA	36261522
GO:0160064	Component	Multi-pass translocon complex	IDA	36261522
GO:0160064	Component	Multi-pass translocon complex	IPI	36261522

MIM	HGNC	e!Ensembl
618474	30203	ENSG00000105583

Q9Y284

Protein name

PAT complex subunit Asterix (Protein associated with the ER translocon of 10kDa) (PAT-10) (PAT10) (WD repeat domain 83 opposite strand) (WDR83 opposite strand)

Protein function

Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:12475939, PubMed:32814900, PubMed:36261522). The MPT complex takes over after the SEC61 comp

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03669	UPF0139	5 → 103	Uncharacterised protein family (UPF0139)	Family

Sequence

MSTNNMSDPRRPNKVLRYKPPPSECNPALDDPTPDYMNLLGMIFSMCGLMLKLKWCAWVA
VYCSFISFANSRSSEDTKQMMSSFMLSISAVVMSYLQNPQPMTPPW

Sequence length

106

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypercholanemia, familial	Pathogenic	rs2024315415	RCV004696479	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Growth Disorders	Growth disorder	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholanemia Familial	Hypercholesterolemia	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30250217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR83OS (WD repeat domain 83 opposite strand)