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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	254394
Gene name	Minichromosome maintenance 9 homologous recombination repair factor
Gene symbol	MCM9
Synonyms (NCBI Gene)	C6orf61MCMDC1ODG4dJ329L24.1dJ329L24.3
Chromosome	6
Chromosome location	6q22.31
Summary	The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recr

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777871	A>G	Pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs587777872	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1060505058	C>A	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant

116

Show/Hide all (116)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024400	hsa-miR-215-5p	Microarray	19074876
MIRT024400	hsa-miR-215-5p	Microarray	19074876
MIRT026373	hsa-miR-192-5p	Microarray	19074876
MIRT633754	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT633753	hsa-miR-7160-3p	HITS-CLIP	23824327
MIRT633752	hsa-miR-4512	HITS-CLIP	23824327
MIRT633751	hsa-miR-5693	HITS-CLIP	23824327
MIRT633750	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT633749	hsa-miR-4284	HITS-CLIP	23824327
MIRT633748	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633747	hsa-miR-6781-5p	HITS-CLIP	23824327
MIRT633746	hsa-miR-1296-5p	HITS-CLIP	23824327
MIRT633745	hsa-miR-2909	HITS-CLIP	23824327
MIRT446902	hsa-miR-6750-3p	PAR-CLIP	22100165
MIRT446901	hsa-miR-888-5p	PAR-CLIP	22100165
MIRT446900	hsa-miR-4453	PAR-CLIP	22100165
MIRT446899	hsa-miR-4538	PAR-CLIP	22100165
MIRT446898	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT446897	hsa-miR-371b-5p	PAR-CLIP	22100165
MIRT446896	hsa-miR-373-5p	PAR-CLIP	22100165
MIRT446895	hsa-miR-616-5p	PAR-CLIP	22100165
MIRT446894	hsa-miR-5579-3p	PAR-CLIP	22100165
MIRT446893	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT633754	hsa-miR-6895-5p	HITS-CLIP	23824327
MIRT633753	hsa-miR-7160-3p	HITS-CLIP	23824327
MIRT633752	hsa-miR-4512	HITS-CLIP	23824327
MIRT633751	hsa-miR-5693	HITS-CLIP	23824327
MIRT633750	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT633749	hsa-miR-4284	HITS-CLIP	23824327
MIRT633748	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633747	hsa-miR-6781-5p	HITS-CLIP	23824327
MIRT633746	hsa-miR-1296-5p	HITS-CLIP	23824327
MIRT633745	hsa-miR-2909	HITS-CLIP	23824327
MIRT446902	hsa-miR-6750-3p	PAR-CLIP	22100165
MIRT446901	hsa-miR-888-5p	PAR-CLIP	22100165
MIRT446900	hsa-miR-4453	PAR-CLIP	22100165
MIRT446899	hsa-miR-4538	PAR-CLIP	22100165
MIRT446898	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT446897	hsa-miR-371b-5p	PAR-CLIP	22100165
MIRT446896	hsa-miR-373-5p	PAR-CLIP	22100165
MIRT446895	hsa-miR-616-5p	PAR-CLIP	22100165
MIRT446894	hsa-miR-5579-3p	PAR-CLIP	22100165
MIRT446893	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT1137845	hsa-miR-1207-3p	CLIP-seq
MIRT1137846	hsa-miR-138	CLIP-seq
MIRT1137847	hsa-miR-224	CLIP-seq
MIRT1137848	hsa-miR-3652	CLIP-seq
MIRT1137849	hsa-miR-3664-5p	CLIP-seq
MIRT1137850	hsa-miR-4282	CLIP-seq
MIRT1137851	hsa-miR-4430	CLIP-seq
MIRT1137852	hsa-miR-4503	CLIP-seq
MIRT1137853	hsa-miR-4699-5p	CLIP-seq
MIRT1137854	hsa-miR-4760-3p	CLIP-seq
MIRT1137855	hsa-miR-4774-5p	CLIP-seq
MIRT1137856	hsa-miR-4803	CLIP-seq
MIRT1137857	hsa-miR-490-3p	CLIP-seq
MIRT1137858	hsa-miR-649	CLIP-seq
MIRT1137859	hsa-miR-3123	CLIP-seq
MIRT1137860	hsa-miR-3159	CLIP-seq
MIRT1137861	hsa-miR-34b	CLIP-seq
MIRT1137862	hsa-miR-34c-3p	CLIP-seq
MIRT1137863	hsa-miR-3647-3p	CLIP-seq
MIRT1137864	hsa-miR-374a	CLIP-seq
MIRT1137865	hsa-miR-374b	CLIP-seq
MIRT1137866	hsa-miR-3925-5p	CLIP-seq
MIRT1137867	hsa-miR-4445	CLIP-seq
MIRT1137868	hsa-miR-4762-5p	CLIP-seq
MIRT1137869	hsa-miR-489	CLIP-seq
MIRT1137870	hsa-miR-539	CLIP-seq
MIRT1137845	hsa-miR-1207-3p	CLIP-seq
MIRT2039124	hsa-miR-140-3p	CLIP-seq
MIRT2039125	hsa-miR-2052	CLIP-seq
MIRT2039126	hsa-miR-3650	CLIP-seq
MIRT1137848	hsa-miR-3652	CLIP-seq
MIRT1137851	hsa-miR-4430	CLIP-seq
MIRT2039127	hsa-miR-496	CLIP-seq
MIRT2039128	hsa-miR-630	CLIP-seq
MIRT2269183	hsa-miR-23a	CLIP-seq
MIRT2269184	hsa-miR-23b	CLIP-seq
MIRT2269185	hsa-miR-23c	CLIP-seq
MIRT2039126	hsa-miR-3650	CLIP-seq
MIRT1137848	hsa-miR-3652	CLIP-seq
MIRT1137849	hsa-miR-3664-5p	CLIP-seq
MIRT1137851	hsa-miR-4430	CLIP-seq
MIRT2269186	hsa-miR-4639-3p	CLIP-seq
MIRT2269187	hsa-miR-4719	CLIP-seq
MIRT1137857	hsa-miR-490-3p	CLIP-seq
MIRT2269188	hsa-miR-587	CLIP-seq
MIRT2269189	hsa-miR-640	CLIP-seq
MIRT1137858	hsa-miR-649	CLIP-seq
MIRT2390737	hsa-miR-1208	CLIP-seq
MIRT2039126	hsa-miR-3650	CLIP-seq
MIRT1137845	hsa-miR-1207-3p	CLIP-seq
MIRT2039124	hsa-miR-140-3p	CLIP-seq
MIRT2269183	hsa-miR-23a	CLIP-seq
MIRT2269184	hsa-miR-23b	CLIP-seq
MIRT2269185	hsa-miR-23c	CLIP-seq
MIRT2039126	hsa-miR-3650	CLIP-seq
MIRT1137848	hsa-miR-3652	CLIP-seq
MIRT2568425	hsa-miR-3672	CLIP-seq
MIRT1137851	hsa-miR-4430	CLIP-seq
MIRT2269188	hsa-miR-587	CLIP-seq
MIRT2390737	hsa-miR-1208	CLIP-seq
MIRT2684739	hsa-miR-1236	CLIP-seq
MIRT2039124	hsa-miR-140-3p	CLIP-seq
MIRT2039126	hsa-miR-3650	CLIP-seq
MIRT1137848	hsa-miR-3652	CLIP-seq
MIRT1137849	hsa-miR-3664-5p	CLIP-seq
MIRT2568425	hsa-miR-3672	CLIP-seq
MIRT1137851	hsa-miR-4430	CLIP-seq
MIRT2684740	hsa-miR-4474-5p	CLIP-seq
MIRT2269186	hsa-miR-4639-3p	CLIP-seq
MIRT2684741	hsa-miR-4695-3p	CLIP-seq
MIRT2684742	hsa-miR-4729	CLIP-seq
MIRT2684743	hsa-miR-4778-3p	CLIP-seq
MIRT2684744	hsa-miR-579	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	22771115
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	23401855
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	22771115
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IMP	26300262
GO:0003682	Function	Chromatin binding	IDA	23401855, 26300262
GO:0003682	Function	Chromatin binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	23401855, 26215093, 26300262, 32296183, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23401855, 26300262
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006260	Process	DNA replication	IGI	23401855
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IDA	22771115
GO:0006974	Process	DNA damage response	IEA
GO:0007276	Process	Gamete generation	IEA
GO:0007292	Process	Female gamete generation	IEA
GO:0007292	Process	Female gamete generation	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017116	Function	Single-stranded DNA helicase activity	IBA
GO:0019899	Function	Enzyme binding	IPI	23401855, 26300262
GO:0032406	Function	MutLbeta complex binding	IDA	26300262
GO:0032407	Function	MutSalpha complex binding	IDA	26300262
GO:0032408	Function	MutSbeta complex binding	IDA	26300262
GO:0036298	Process	Recombinational interstrand cross-link repair	IEA
GO:0036298	Process	Recombinational interstrand cross-link repair	IMP	23401855
GO:0042555	Component	MCM complex	IBA
GO:0044877	Function	Protein-containing complex binding	IDA	26215093
GO:0070716	Process	Mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication	IMP	26300262
GO:0070716	Process	Mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication	NAS	26300262
GO:0071168	Process	Protein localization to chromatin	IMP	23401855
GO:0097362	Component	MCM8-MCM9 complex	IDA	22771115, 23401855, 26215093, 26300262
GO:0097362	Component	MCM8-MCM9 complex	IEA
GO:0097362	Component	MCM8-MCM9 complex	IPI	26300262

MIM	HGNC	e!Ensembl
610098	21484	ENSG00000111877

Q9NXL9

Protein name

DNA helicase MCM9 (hMCM9) (EC 3.6.4.12) (Mini-chromosome maintenance deficient domain-containing protein 1) (Minichromosome maintenance 9)

Protein function

Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NB

PDB

7DPD , 7WI7 , 7YOX , 8S91 , 8S92 , 8S94

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17207	MCM_OB	114 → 247	MCM OB domain	Domain
PF00493	MCM	294 → 509	MCM P-loop domain	Domain
PF17855	MCM_lid	522 → 604	MCM AAA-lid domain	Domain

Sequence

MNSDQVTLVGQVFESYVSEYHKNDILLILKERDEDAHYPVVVNAMTLFETNMEIGEYFNM
FPSEVLTIFDSALRRSALTILQSLSQPEAVSMKQNLHARISGLPVCPELVREHIPKTKDV
GHFLSVTGTVIRTSLVKVLEFERDYMCNKCKHVFVIKADFEQYYTFCRPSSCPSLESCDS
SKFTCLSGLSSSPTRCRDYQEIKIQEQVQRLSVGSIPRSMKVILEDDLVDSCKSGDDLTI
YGIVMQRWKPFQQDVRCEVEIVLKANYIQVNNEQSSGIIMDEEVQKEFEDFWEYYKSDPF
AGRNVILASLCPQVFGMYLVKLAVAMVLAGGIQRTDATGTRVRGESHLLLVGDPGTGKSQ
FLKYAAKITPRSVLTTGIGSTSAGLTVTAVKDSGEWNLEAGALVLADAGLCCIDEFNSLK
EHDRTSIHEAMEQQTISVAKAGLVCKLNTRTTILAATNPKGQYDPQESVSVNIALGSPLL
SRFDLILVLLDTKNEDWDRIISSFILENKGYPSKSEKLWSMEKMKTYFCLIRNLQPTLSD
VGNQVLLRYYQMQRQSDCRNAARTTIRLLESLIRLAEAHARLMFRDTVTLEDAITVVSVM
ESSMQGGALLGGVNALHTSFPENPGEQYQRQCELILEKLELQSLLSEELRRLERLQNQSV
HQSQPRVLEVETTPGSLRNGPGEESNFRTSSQQEINYSTHIFSPGGSPEGSPVLDPPPHL
EPNRSTSRKHSAQHKNNRDDSLDWFDFMATHQSEPKNTVVVSPHPKTSGENMASKISNST
SQGKEKSEPGQRSKVDIGLLPSPGETGVPWRADNVESNKKKRLALDSEAAVSADKPDSVL
THHVPRNLQKLCKERAQKLCRNSTRVPAQCTVPSHPQSTPVHSPDRMLDSPKRKRPKSLA
QVEEPAIENVKPPGSPVAKLAKFTFKQKSKLIHSFEDHSHVSPGATKIAVHSPKISQRRT
RRDAALPVKRPGKLTSTPGNQISSQPQGETKEVSQQPPEKHGPREKVMCAPEKRIIQPEL
ELGNETGCAHLTCEGDKKEEVSGSNKSGKVHACTLARLANFCFTPPSESKSKSPPPERKN
RGERGPSSPPTTTAPMRVSKRKSFQLRGSTEKLIVSKESLFTLPELGDEAFDCDWDEEMR
KKS

Sequence length

1143

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XX ovarian dysgenesis-short stature syndrome	Pathogenic; Likely pathogenic	rs587777871, rs587777872, rs1380220881, rs772472098, rs774660544, rs1060505058	RCV000149815 RCV000149816 RCV002289161 RCV004594995 RCV004594996 RCV000477968
Non-obstructive azoospermia	Likely pathogenic; Pathogenic	rs587777872	RCV001640177
Premature ovarian failure 1	Pathogenic; Likely pathogenic	rs587777871, rs587777872	RCV000144731 RCV000144732

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs9387607	RCV005908781
Hepatocellular carcinoma	Benign	rs9387607	RCV005908779
Malignant tumor of esophagus	Benign	rs9387607	RCV005908780
MCM9-related disorder	Likely benign; Benign	rs768666305, rs928548799, rs149471755, rs76967739, rs78231991, rs61742362, rs116048760, rs182397736	RCV003911867 RCV003961515 RCV003917146 RCV003979287 RCV003928262 RCV003960652 RCV003930518 RCV004758077
Premature ovarian failure	Likely benign	rs78231991	RCV001002741
Premature ovarian insufficiency	Likely benign	rs78231991	RCV000766165

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	31323040
Carcinoma Squamous Cell	Stimulate	36445337
Chromosomal Instability	Associate	25480036
Colorectal Neoplasms	Associate	39596218
DNA Virus Infections	Associate	27802094
Down Syndrome	Associate	33750944
Genomic Instability	Associate	25480036
Gonadal Dysgenesis 46 XX	Associate	39529088
Growth Disorders	Associate	25480036
Hypogonadism	Associate	25480036
Intestinal Polyposis	Associate	34704405
Lung Neoplasms	Associate	35360518
Nasopharyngeal Carcinoma	Associate	34432380
Neoplasm Metastasis	Stimulate	26965286
Ovarian Dysgenesis 2	Associate	25480036
Pancreatic Neoplasms	Associate	27695057
Primary Ovarian Insufficiency	Associate	25480036, 27802094, 30276597, 30406445, 32145932, 32962729, 33109206, 33538981
Tremor	Associate	35063306
Uterine Cervical Neoplasms	Associate	32066835

MCM9 (minichromosome maintenance 9 homologous recombination repair factor)