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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	286187
Gene name	Protein phosphatase 1 regulatory subunit 42
Gene symbol	PPP1R42
Synonyms (NCBI Gene)	LRRC67TLLRTLRRdtr
Chromosome	8
Chromosome location	8q13.1
Summary	The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provi

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence
GO:0002177	Component	Manchette	ISS
GO:0003779	Function	Actin binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	ISS
GO:0005815	Component	Microtubule organizing center	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0015630	Component	Microtubule cytoskeleton	ISS
GO:0015631	Function	Tubulin binding	ISS
GO:0070840	Function	Dynein complex binding	ISS

MIM	HGNC	e!Ensembl
617720	33732	ENSG00000178125

Q7Z4L9

Protein name

Protein phosphatase 1 regulatory subunit 42 (Leucine-rich repeat-containing protein 67)

Protein function

Regulates phosphatase activity of protein phosphatase 1 (PP1) complexes in the testis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12799	LRR_4	72 → 114	Leucine Rich repeats (2 copies)	Repeat
PF14580	LRR_9	139 → 256		Repeat

Sequence

MVRLTLDLIARNSNLKPRKEETISQCLKKITHINFSDKNIDAIEDLSLCKNLSVLYLYDN
CISQITNLNYATNLTHLYLQNNCISCIENLRSLKKLEKLYLGGNYIAVIEGLEGLGELRE
LHVENQRLPLGEKLLFDPRTLHSLAKSLCILNISNNNIDDITDLELLENLNQLIAVDNQL
LHVKDLEFLLNKLMKLWKIDLNGNPVCLKPKYRDRLILVSKSLEFLDGKEIKNIERQFLM
NWKASKDAKKISKKRSSKNEDASNSLISNFKTMHHIVPVYYPQVGKPKLAFFSEIQRYPV
NANASPESS

Sequence length

309

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 Unknown Diseases (2)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29550070	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	29444897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29550070	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28330901	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31275059	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24786973	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28605364	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29721383, 29997124	★★★★★ ★☆☆☆☆ Found in Text Mining only

PPP1R42 (protein phosphatase 1 regulatory subunit 42)