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    MCMDC2 minichromosome maintenance domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 157777, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MCMDC2provided by HGNC
    Official Full Name
    minichromosome maintenance domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:26368
    See related
    Ensembl:ENSG00000178460 MIM:617545; AllianceGenome:HGNC:26368
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C8orf45
    Summary
    Predicted to enable ATP binding activity and DNA binding activity. Predicted to be involved in double-strand break repair via break-induced replication. Predicted to act upstream of or within gamete generation and meiosis I cell cycle process. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 6.3), ovary (RPKM 2.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCMDC2 in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66870771..66926382)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67297252..67352914)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67783006..67834283)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene C8orf44-SGK3 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27491 Neighboring gene chromosome 8 putative open reading frame 44 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19255 Neighboring gene serum/glucocorticoid regulated kinase family member 3 Neighboring gene NANOG hESC enhancer GRCh37_chr8:67666223-67666757 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:67687144-67687644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:67690173-67690674 Neighboring gene pituitary tumor-transforming 3, pseudogene Neighboring gene MPRA-validated peak7059 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27492 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:67837556-67838755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:67852931-67853432 Neighboring gene small nucleolar RNA, C/D box 87 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:67867090-67867662 Neighboring gene small nucleolar RNA host gene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27493 Neighboring gene transcription factor 24 Neighboring gene pre-mRNA processing factor 3 pseudogene Neighboring gene protein phosphatase 1 regulatory subunit 42

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25692

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via break-induced replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    minichromosome maintenance domain-containing protein 2
    Names
    MCM domain-containing protein 2
    MCM domain-containing protein C8orf45

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001136160.2 → NP_001129632.1  minichromosome maintenance domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001129632.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AA928149, AC011031, AK302169
      Consensus CDS
      CCDS47868.1
      UniProtKB/TrEMBL
      B4DXX4
      Related
      ENSP00000317234.5, ENST00000313616.5
      Conserved Domains (2) summary
      PTZ00111
      Location:358 → 435
      PTZ00111; DNA replication licensing factor MCM4; Provisional
      pfam00493
      Location:514 → 622
      MCM; MCM2/3/5 family

    2. NM_001136161.2 → NP_001129633.1  minichromosome maintenance domain-containing protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC011031, BC034576, BC063108
      Consensus CDS
      CCDS47869.1
      UniProtKB/Swiss-Prot
      Q4G0Z9
      Related
      ENSP00000379837.3, ENST00000396592.7

    3. NM_173518.5 → NP_775789.3  minichromosome maintenance domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_775789.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC011031, AK302672, AK303003, AL833526, BG722401
      Consensus CDS
      CCDS6197.2
      UniProtKB/Swiss-Prot
      B4DYZ3, B4DZM4, B4E293, Q4G0Z9, Q6P533, Q7Z3P4
      Related
      ENSP00000413632.2, ENST00000422365.7
      Conserved Domains (2) summary
      PTZ00111
      Location:358 → 435
      PTZ00111; DNA replication licensing factor MCM4; Provisional
      pfam00493
      Location:514 → 622
      MCM; MCM2/3/5 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      66870771..66926382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517469.3 → XP_011515771.1  minichromosome maintenance domain-containing protein 2 isoform X5

      Conserved Domains (2) summary
      PTZ00111
      Location:358 → 435
      PTZ00111; DNA replication licensing factor MCM4; Provisional
      pfam00493
      Location:514 → 622
      MCM; MCM2/3/5 family

    2. XM_006716427.4 → XP_006716490.1  minichromosome maintenance domain-containing protein 2 isoform X2

      Conserved Domains (2) summary
      PTZ00111
      Location:340 → 417
      PTZ00111; DNA replication licensing factor MCM4; Provisional
      pfam00493
      Location:496 → 604
      MCM; MCM2/3/5 family

    3. XM_005251174.3 → XP_005251231.1  minichromosome maintenance domain-containing protein 2 isoform X6

      UniProtKB/Swiss-Prot
      Q4G0Z9
      Conserved Domains (2) summary
      PTZ00111
      Location:295 → 372
      PTZ00111; DNA replication licensing factor MCM4; Provisional
      pfam00493
      Location:451 → 559
      MCM; MCM2/3/5 family

    4. XM_006716429.3 → XP_006716492.1  minichromosome maintenance domain-containing protein 2 isoform X3

      Conserved Domains (1) summary
      pfam00493
      Location:487 → 595
      MCM; MCM2/3/5 family

    5. XM_011517468.3 → XP_011515770.1  minichromosome maintenance domain-containing protein 2 isoform X4

      Conserved Domains (2) summary
      PTZ00111
      Location:316 → 393
      PTZ00111; DNA replication licensing factor MCM4; Provisional
      pfam00493
      Location:472 → 580
      MCM; MCM2/3/5 family

    6. XM_011517467.4 → XP_011515769.1  minichromosome maintenance domain-containing protein 2 isoform X1

      Conserved Domains (2) summary
      PTZ00111
      Location:358 → 435
      PTZ00111; DNA replication licensing factor MCM4; Provisional
      pfam00493
      Location:514 → 622
      MCM; MCM2/3/5 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      67297252..67352914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359852.1 → XP_054215827.1  minichromosome maintenance domain-containing protein 2 isoform X5

    2. XM_054359849.1 → XP_054215824.1  minichromosome maintenance domain-containing protein 2 isoform X2

    3. XM_054359853.1 → XP_054215828.1  minichromosome maintenance domain-containing protein 2 isoform X6

    4. XM_054359850.1 → XP_054215825.1  minichromosome maintenance domain-containing protein 2 isoform X3

    5. XM_054359851.1 → XP_054215826.1  minichromosome maintenance domain-containing protein 2 isoform X4

    6. XM_054359848.1 → XP_054215823.1  minichromosome maintenance domain-containing protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4G0Z9.3 GenPept UniProtKB/Swiss-Prot:Q4G0Z9

    Gene LinkOut

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