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	157777
Gene name	Minichromosome maintenance domain containing 2
Gene symbol	MCMDC2
Synonyms (NCBI Gene)	C8orf45
Chromosome	8
Chromosome location	8q13.1

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017166	hsa-miR-335-5p	Microarray	18185580
MIRT643733	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT643732	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT643731	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT643730	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT643729	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT643728	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT643727	hsa-miR-6076	HITS-CLIP	23824327
MIRT643726	hsa-miR-6797-3p	HITS-CLIP	23824327
MIRT643725	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT643724	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT643723	hsa-miR-7703	HITS-CLIP	23824327
MIRT643722	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT526930	hsa-miR-541-5p	PAR-CLIP	22012620
MIRT526929	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT526928	hsa-miR-3688-3p	PAR-CLIP	22012620
MIRT526927	hsa-miR-4539	PAR-CLIP	22012620
MIRT526926	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT526925	hsa-miR-4261	PAR-CLIP	22012620
MIRT526924	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT643733	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT643732	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT643731	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT643730	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT643729	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT643728	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT643727	hsa-miR-6076	HITS-CLIP	23824327
MIRT643726	hsa-miR-6797-3p	HITS-CLIP	23824327
MIRT643725	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT643724	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT643723	hsa-miR-7703	HITS-CLIP	23824327
MIRT643722	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT526930	hsa-miR-541-5p	PAR-CLIP	22012620
MIRT526929	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT526928	hsa-miR-3688-3p	PAR-CLIP	22012620
MIRT526927	hsa-miR-4539	PAR-CLIP	22012620
MIRT526926	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT526925	hsa-miR-4261	PAR-CLIP	22012620
MIRT526924	hsa-miR-7158-3p	PAR-CLIP	22012620

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007146	Process	Meiotic recombination nodule assembly	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0042140	Process	Late meiotic recombination nodule assembly	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IEA

MIM	HGNC	e!Ensembl
617545	26368	ENSG00000178460

Q4G0Z9

Protein name

Minichromosome maintenance domain-containing protein 2 (MCM domain-containing protein 2)

Protein function

Plays an important role in meiotic recombination and associated DNA double-strand break repair.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00493	MCM	294 → 440	MCM P-loop domain	Domain
PF17855	MCM_lid	538 → 622	MCM AAA-lid domain	Domain

Sequence

MSNLKMKEAALIYLDRSGGLQKFIDDCKYYNDSKQSYAVYRFKILINPSDVVELDAELGN
HILHQPLKAAEVFQSVCFIAVKTLSLIGQLQTETQINIVLKLTHLPPLPSYGLDLCEFPL
DYTSQRFYMMQGIVIAMTTITKYTQGARFLCSDEACPLSKGFQYIRVHVPGATESATIRN
DFLCNLCASSLQEDRKFRVLGDKQIVEIIATKALRAFQGYSNNQPFRFQSLTIFLRDESV
NKMNIGNEYKIIGIPTCVKTSQTAVCIEANSITFCNSKVPSGISDNFRCLLSLTSSSCWK
FTAILANIFASQITPPGTYNLLKLCLLMSLVQTTDRNKELEDCLDILIITSDTLLIDRLL
NFSINLVPRGIRHLVSTEIFPTLSRNKYGTGAVSIQAGSALLAKGGICFIGDLASHKKDK
LEQLQTVLESRSITVYIPGKKFGEDIDQQMTFPVQCSFWSFVDVDSSSRRNAQKINTLIG
QMDCSLIPANLVEAFGLLINCNESSPCHPFLPTVQHTLNKAINPEGLFYAASRQFTTEDF
EKLLAFAKNLNVEFSLEAERMTHGYYLASRRIRTGSVCGSKLSASALKYLVFLSEAHARL
NLRNKVLKEDVLIAALLFETSLTLKYGATVFCVAPNAVFPFELYNEEYLEQRDLYLTQCQ
QQLEQFIATYGPGTTIFSSDE

Sequence length

681

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Azoospermia	Pathogenic	rs370115455	RCV001797576	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs751075073, rs143895635	RCV003991616 RCV003991617	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

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	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	Pubtator	35172124	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

MCMDC2 (minichromosome maintenance domain containing 2)