Seroatlas · Human Serome Atlas

MCMDC2

Minichromosome maintenance domain-containing protein 2

Also known as: C8orf45, FLJ25692, MCMD2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q4G0Z9
Gene: MCMDC2
Ensembl: ENSG00000178460
Chromosome: 8
Canonical length: 681 aa
Protein class: Predicted intracellular proteins
Subcellular location: Actin filaments

OverviewNCBI Gene

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 meiosis I cell cycle process; oogenesis; and spermatogenesis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

681 residues, UniProt reviewed canonical sequence.

>Q4G0Z9|MCMDC2
     1  MSNLKMKEAA LIYLDRSGGL QKFIDDCKYY NDSKQSYAVY RFKILINPSD VVELDAELGN
    61  HILHQPLKAA EVFQSVCFIA VKTLSLIGQL QTETQINIVL KLTHLPPLPS YGLDLCEFPL
   121  DYTSQRFYMM QGIVIAMTTI TKYTQGARFL CSDEACPLSK GFQYIRVHVP GATESATIRN
   181  DFLCNLCASS LQEDRKFRVL GDKQIVEIIA TKALRAFQGY SNNQPFRFQS LTIFLRDESV
   241  NKMNIGNEYK IIGIPTCVKT SQTAVCIEAN SITFCNSKVP SGISDNFRCL LSLTSSSCWK
   301  FTAILANIFA SQITPPGTYN LLKLCLLMSL VQTTDRNKEL EDCLDILIIT SDTLLIDRLL
   361  NFSINLVPRG IRHLVSTEIF PTLSRNKYGT GAVSIQAGSA LLAKGGICFI GDLASHKKDK
   421  LEQLQTVLES RSITVYIPGK KFGEDIDQQM TFPVQCSFWS FVDVDSSSRR NAQKINTLIG
   481  QMDCSLIPAN LVEAFGLLIN CNESSPCHPF LPTVQHTLNK AINPEGLFYA ASRQFTTEDF
   541  EKLLAFAKNL NVEFSLEAER MTHGYYLASR RIRTGSVCGS KLSASALKYL VFLSEAHARL
   601  NLRNKVLKED VLIAALLFET SLTLKYGATV FCVAPNAVFP FELYNEEYLE QRDLYLTQCQ
   661  QQLEQFIATY GPGTTIFSSD E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MCMDC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 11 nTPM

Expression across tissuesHPA

Tissue

testis: 11 nTPM
skeletal muscle: 5.6 nTPM
retina: 4.1 nTPM
bone marrow: 3.9 nTPM
lymph node: 2.6 nTPM
heart muscle: 2.4 nTPM

Single-cell type

early primary spermatocytes: 90 nCPM
late primary spermatocytes: 73 nCPM
myonuclei: 43 nCPM
early spermatids: 42 nCPM
retinal ganglion cells: 27 nCPM
bergmann glia: 20 nCPM

Immune cell

naive CD4 T-cell: 1.6 nTPM
memory CD4 T-cell: 1.4 nTPM
naive CD8 T-cell: 1.4 nTPM
NK-cell: 1.3 nTPM
MAIT T-cell: 1.2 nTPM
plasmacytoid DC: 1.2 nTPM

Brain region

cerebellum: 8.2 nTPM
white matter: 7.7 nTPM
basal ganglia: 6 nTPM
medulla oblongata: 6 nTPM
pons: 5.9 nTPM
midbrain: 5.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MCMDC2.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 82 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Male infertility with azoospermia or oligozoospermia due to single gene mutation
Azoospermia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.9
gnomAD pLI: 0
gnomAD missense Z: 1.07
DepMap mean gene effect: 0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

double-strand break repair involved in meiotic recombination
double-strand break repair via break-induced replication
oogenesis
spermatogenesis
synaptonemal complex assembly
late meiotic recombination nodule assembly

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

P-loop containing nucleoside triphosphate hydrolase
Mini-chromosome maintenance protein
MCM, AAA-lid domain
MCM AAA-lid domain
MCMDC2, N-terminal domain
MCMDC2, N-terminal domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MCMDC2 as an antibody target. Whether an autoantibody or antibody against MCMDC2 could matter depends on whether native MCMDC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MCMDC2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MCMDC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...