Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610098 21484 ENSG00000111877
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
YGIVMQR
WKPFQQDVRCEVEIVLKANYIQVNNEQSSGIIMDEEVQKEFEDFWEYYKSDPF
AGRNVILASLCPQVFGMYLVKLAVAMVLAGGIQRTDATGTRVRGESHLLLVGDPGTGKSQ
FLKYAAKITPRSVLTTGIGSTSAGLTVTAVKDSGEWNLEAGALVLADAGLCCIDEFNSLK
EHDRTSIHEAMEQQTISVAKAGLVCKLNTRTTILAATNPKGQYDPQESVSVNIALGSPLL
SRFDLILVLLDTKNEDWDRIISSFILENK
GYPSKSEKLWSMEKMKTYFCLIRNLQPTLSD
VGNQVLLRYYQMQRQSDCRNAARTTIRLLESLIRLAEAHARLMFRDTVTLEDAITVVSVM
ESSM
QGGALLGGVNALHTSFPENPGEQYQRQCELILEKLELQSLLSEELRRLERLQNQSV
HQSQPRVLEVETTPGSLRNGPGEESNFRTSSQQEINYSTHIFSPGGSPEGSPVLDPPPHL
EPNRSTSRKHSAQHKNNRDDSLDWFDFMATHQSEPKNTVVVSPHPKTSGENMASKISNST
SQGKEKSEPGQRSKVDIGLLPSPGETGVPWRADNVESNKKKRLALDSEAAVSADKPDSVL
THHVPRNLQKLCKERAQKLCRNSTRVPAQCTVPSHPQSTPVHSPDRMLDSPKRKRPKSLA
QVEEPAIENVKPPGSPVAKLAKFTFKQKSKLIHSFEDHSHVSPGATKIAVHSPKISQRRT
RRDAALPVKRPGKLTSTPGNQISSQPQGETKEVSQQPPEKHGPREKVMCAPEKRIIQPEL
ELGNETGCAHLTCEGDKKEEVSGSNKSGKVHACTLARLANFCFTPPSESKSKSPPPERKN
RGERGPSSPPTTTAPMRVSKRKSFQLRGSTEKLIVSKESLFTLPELGDEAFDCDWDEEMR
KKS
Sequence length 1143
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,XX ovarian dysgenesis-short stature syndrome Pathogenic; Likely pathogenic rs587777871, rs587777872, rs1380220881, rs772472098, rs774660544, rs1060505058 RCV000149815
RCV000149816
RCV002289161
RCV004594995
RCV004594996
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-obstructive azoospermia Likely pathogenic; Pathogenic rs587777872 RCV001640177
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 1 Pathogenic; Likely pathogenic rs587777871, rs587777872 RCV000144731
RCV000144732
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46,XX ovarian dysgenesis-short stature syndrome 46, XX ovarian dysgenesis-short stature syndrome Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36445337 Stimulate
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Chromosomal instability Pubtator 25480036 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26806154
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 39596218 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 33750944 Associate
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism BEFREE 25480036, 26771056
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Gonadal Dysgenesis 46 XX 46, xx gonadal dysgenesis Pubtator 39529088 Associate
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 25480036 Associate
★☆☆☆☆
Found in Text Mining only