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

Gene ID: 157777, updated on 1-Aug-2020

Summary

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
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
Expression
Broad expression in testis (RPKM 6.3), ovary (RPKM 2.7) and 24 other tissues See more
Orthologs

Genomic context

See MCMDC2 in Genome Data Viewer
Location:
8q13.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (66870757..66926436)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67782984..67834283)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene C8orf44-SGK3 readthrough Neighboring gene chromosome 8 open reading frame 44 Neighboring gene serum/glucocorticoid regulated kinase family member 3 Neighboring gene pituitary tumor-transforming 3, pseudogene Neighboring gene small nucleolar RNA, C/D box 87 Neighboring gene small nucleolar RNA host gene 6 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25692

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA replication origin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA strand elongation involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA unwinding involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair involved in meiotic recombination IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair via break-induced replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late meiotic recombination nodule assembly IEA
Inferred from Electronic Annotation
more info
 
mitotic DNA replication initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
pre-replicative complex assembly involved in nuclear cell cycle DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
synaptonemal complex assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MCM complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001136160.1NP_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, AK302169
    Consensus CDS
    CCDS47868.1
    UniProtKB/TrEMBL
    B4DXX4
    Related
    ENSP00000317234.5, ENST00000313616.5
    Conserved Domains (2) summary
    PTZ00111
    Location:358435
    PTZ00111; DNA replication licensing factor MCM4; Provisional
    pfam00493
    Location:514622
    MCM; MCM2/3/5 family
  2. NM_001136161.2NP_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_173518.5NP_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
    Q4G0Z9
    Related
    ENSP00000413632.2, ENST00000422365.7
    Conserved Domains (2) summary
    PTZ00111
    Location:358435
    PTZ00111; DNA replication licensing factor MCM4; Provisional
    pfam00493
    Location:514622
    MCM; MCM2/3/5 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    66870757..66926436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447078.1XP_024302846.1  minichromosome maintenance domain-containing protein 2 isoform X7

    Conserved Domains (2) summary
    cl25443
    Location:116193
    MCM_OB; MCM OB domain
    cl26101
    Location:293380
    MCM; MCM2/3/5 family
  2. XM_006716427.3XP_006716490.1  minichromosome maintenance domain-containing protein 2 isoform X2

    Conserved Domains (2) summary
    PTZ00111
    Location:340417
    PTZ00111; DNA replication licensing factor MCM4; Provisional
    pfam00493
    Location:496604
    MCM; MCM2/3/5 family
  3. XM_006716433.3XP_006716496.1  minichromosome maintenance domain-containing protein 2 isoform X7

    See identical proteins and their annotated locations for XP_006716496.1

    UniProtKB/Swiss-Prot
    Q4G0Z9
    Conserved Domains (2) summary
    cl25443
    Location:116193
    MCM_OB; MCM OB domain
    cl26101
    Location:293380
    MCM; MCM2/3/5 family
  4. XM_017013140.1XP_016868629.1  minichromosome maintenance domain-containing protein 2 isoform X8

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

    UniProtKB/Swiss-Prot
    Q4G0Z9
    Conserved Domains (2) summary
    PTZ00111
    Location:295372
    PTZ00111; DNA replication licensing factor MCM4; Provisional
    pfam00493
    Location:451559
    MCM; MCM2/3/5 family
  6. XM_011517469.2XP_011515771.1  minichromosome maintenance domain-containing protein 2 isoform X5

    Conserved Domains (2) summary
    PTZ00111
    Location:358435
    PTZ00111; DNA replication licensing factor MCM4; Provisional
    pfam00493
    Location:514622
    MCM; MCM2/3/5 family
  7. XM_006716429.2XP_006716492.1  minichromosome maintenance domain-containing protein 2 isoform X3

    Conserved Domains (1) summary
    pfam00493
    Location:487595
    MCM; MCM2/3/5 family
  8. XM_011517468.2XP_011515770.1  minichromosome maintenance domain-containing protein 2 isoform X4

    Conserved Domains (2) summary
    PTZ00111
    Location:316393
    PTZ00111; DNA replication licensing factor MCM4; Provisional
    pfam00493
    Location:472580
    MCM; MCM2/3/5 family
  9. XM_011517467.3XP_011515769.1  minichromosome maintenance domain-containing protein 2 isoform X1

    Conserved Domains (2) summary
    PTZ00111
    Location:358435
    PTZ00111; DNA replication licensing factor MCM4; Provisional
    pfam00493
    Location:514622
    MCM; MCM2/3/5 family
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