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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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Related articles in PubMed

  1. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, et al. Sci Data, 2018 Mar 6. PMID 29509190, Free PMC Article
  2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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

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