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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4342
Gene name	MOS proto-oncogene, serine/threonine kinase
Gene symbol	MOS
Synonyms (NCBI Gene)	MSVOZEMA20
Chromosome	8
Chromosome location	8q12.1
Summary	MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009]

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0000212	Process	Meiotic spindle organization	IEA
GO:0000212	Process	Meiotic spindle organization	ISS
GO:0001556	Process	Oocyte maturation	IMP	34779126, 34997960, 35670744
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004709	Function	MAP kinase kinase kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	21516116, 22939624, 25036637, 25416956, 28514442, 29892012, 30886144, 31515488, 32296183, 32707033, 33961781, 34779126
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	35670744
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	ISS
GO:0007165	Process	Signal transduction	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0040020	Process	Regulation of meiotic nuclear division	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0051296	Process	Establishment of meiotic spindle orientation	IEA
GO:0051296	Process	Establishment of meiotic spindle orientation	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	34779126
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902103	Process	Negative regulation of metaphase/anaphase transition of meiotic cell cycle	IBA
GO:1902103	Process	Negative regulation of metaphase/anaphase transition of meiotic cell cycle	IEA
GO:1902103	Process	Negative regulation of metaphase/anaphase transition of meiotic cell cycle	ISS

MIM	HGNC	e!Ensembl
190060	7199	ENSG00000172680

P00540

Protein name

Proto-oncogene serine/threonine-protein kinase mos (EC 2.7.11.1) (Oocyte maturation factor mos) (Proto-oncogene c-Mos)

Protein function

Serine/threonine kinase involved in the regulation of MAPK signaling. Is an activator of the ERK1/2 signaling cascade playing an essential role in the stimulation of oocyte maturation. {ECO:0000269|PubMed:34779126, ECO:0000269|PubMed:34997960, E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	61 → 337	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in oocytes. Lower expression is detected in early embryo. {ECO:0000269|PubMed:34779126}.

Sequence

MPSPLALRPYLRSEFSPSVDARPCSSPSELPAKLLLGATLPRAPRLPRRLAWCSIDWEQV
CLLQRLGAGGFGSVYKATYRGVPVAIKQVNKCTKNRLASRRSFWAELNVARLRHDNIVRV
VAASTRTPAGSNSLGTIIMEFGGNVTLHQVIYGAAGHPEGDAGEPHCRTGGQLSLGKCLK
YSLDVVNGLLFLHSQSIVHLDLKPANILISEQDVCKISDFGCSEKLEDLLCFQTPSYPLG
GTYTHRAPELLKGEGVTPKADIYSFAITLWQMTTKQAPYSGERQHILYAVVAYDLRPSLS
AAVFEDSLPGQRLGDVIQRCWRPSAAQRPSARLLLVDLTSLKAELG

Sequence length

346

Interactions

View interactions

	KEGG
	Oocyte meiosis Regulation of actin cytoskeleton Progesterone-mediated oocyte maturation

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
Oocyte/zygote/embryo maturation arrest 20	Pathogenic	rs774064952, rs2487036131, rs1563357810, rs2487034928, rs1293467045, rs2487034940, rs2487035279, rs2487035768	RCV003228744 RCV003228745 RCV003228746 RCV003228748 RCV003228749 RCV003228750 RCV003228751 RCV003228753	★★★★★ ★★★★★ 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.
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Atelosteogenesis type 2	Associate	36672822	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Associate	23892411	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Associate	23199169	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	2564734, 2996003	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	11778648	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	6961456	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome Aberrations	Associate	36672822	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	15750208	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	37781924	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Associate	23892411	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	2878411	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Associate	36672822	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Associate	15133472	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Associate	36403623	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	19814819	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Stimulate	37930138	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	2996003	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	36847709	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Associate	2993032	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Associate	16401344	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell	Associate	6300881	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucositis	Associate	23892411	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	15133472, 19750229, 2564182, 2878411, 2895024, 35091678	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	9635841	★★★★★ ★☆☆☆☆ Found in Text Mining only
NOG Related Symphalangism Spectrum Disorder	Associate	15750208	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oncogene Addiction	Associate	35091678	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Associate	34806827	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	26087797, 35038821	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Associate	8695346	★★★★★ ★☆☆☆☆ Found in Text Mining only

MOS (MOS proto-oncogene, serine/threonine kinase)