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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MCM3AP
minichromosome maintenance complex component 3 associated protein
Chromosome 21 Β· 21q22.3
NCBI Gene: 8888Ensembl: ENSG00000160294.11HGNC: HGNC:6946UniProt: O60318
104PubMed Papers
21Diseases
0Drugs
107Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnuclear membranehistone H3 acetyltransferase activityhistone bindingperipheral neuropathy, autosomal recessive, with or without impaired intellectual developmentgenetic disorderautism spectrum disorderTesticular Germ Cell Tumor
✦AI Summary

MCM3AP (minichromosome maintenance complex component 3 associated protein) is a multifunctional protein that plays critical roles in DNA replication control and transcriptional regulation. The protein binds to and acetylates the replication protein MCM3, participating in the initiation of DNA replication and ensuring that DNA replication occurs only once per cell cycle. Through its histone acetyltransferase activity, MCM3AP affects nucleosome assembly at immunoglobulin variable region genes and promotes recruitment of transcription complexes to facilitate DNA cytosine deaminase AICDA/AID targeting, thereby promoting somatic hypermutations in immune cells. The protein is associated with various cellular processes including mRNA export from the nucleus and chr21 organization. MCM3AP is linked to peripheral neuropathy with or without intellectual disability when mutated. Additionally, the antisense RNA transcript MCM3AP-AS1 has emerged as a significant long non-coding RNA involved in cancer biology, with aberrant expression associated with tumor progression, metastasis, and poor prognosis across multiple cancer types 12. The MCM3AP-AS1 lncRNA functions as a competitive endogenous RNA, sequestering various microRNAs and affecting cancer-related signaling pathways including PTEN/AKT and PI3K/AKT 34.

Sources cited
1
MCM3AP-AS1 lncRNA has oncogenic roles in several cancers and is involved in cancer cell growth, proliferation, angiogenesis, and metastasis
PMID: 36002764
2
MCM3AP-AS1 overexpression or under-expression affects cancer cell proliferation, invasion, and translocation
PMID: 35156580
3
MCM3AP-AS1 sequester various microRNAs and influences PTEN/AKT, PI3K/AKT and ERK1/2 signaling pathways
PMID: 35790972
4
MCM3AP-AS1 overexpression is associated with poor overall survival and relapse-free survival in cancer patients
PMID: 35783010
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
peripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentOpen Targets
0.79Strong
genetic disorderOpen Targets
0.51Moderate
autism spectrum disorderOpen Targets
0.33Weak
Testicular Germ Cell TumorOpen Targets
0.29Weak
testicular carcinomaOpen Targets
0.29Weak
mental or behavioural disorderOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.26Weak
premature birthOpen Targets
0.23Weak
peripheral neuropathyOpen Targets
0.14Weak
congenital fibrosis of extraocular musclesOpen Targets
0.12Weak
posterior cortical atrophyOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentUniProt
Pathogenic Variants107
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)Pathogenic
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1272
NM_003906.5(MCM3AP):c.2936_2937del (p.Pro979fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 979
NM_003906.5(MCM3AP):c.546_549del (p.Ser183fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 183
NM_003906.5(MCM3AP):c.3228dup (p.Asp1077Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1077
NM_003906.5(MCM3AP):c.3476_3477del (p.Gln1159fs)Pathogenic
not provided|Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development|Inborn genetic diseases|MCM3AP-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1159
NM_003906.5(MCM3AP):c.5278dup (p.Arg1760fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1760
NM_003906.5(MCM3AP):c.4297del (p.His1433fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1433
NM_003906.5(MCM3AP):c.112_113del (p.Leu38fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 38
NM_003906.5(MCM3AP):c.1747G>T (p.Glu583Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 583
NM_003906.5(MCM3AP):c.2209C>T (p.Gln737Ter)Likely pathogenic
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
β˜…β˜†β˜†β˜†2025β†’ Residue 737
NM_003906.5(MCM3AP):c.814_817del (p.Gln272fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 272
NM_003906.5(MCM3AP):c.1541_1542insA (p.Phe514fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 514
NM_003906.5(MCM3AP):c.1668-1G>CLikely pathogenic
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
β˜…β˜†β˜†β˜†2025
NM_003906.5(MCM3AP):c.3091_3092del (p.Gln1031fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1031
NM_003906.5(MCM3AP):c.508C>T (p.Gln170Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 170
NM_003906.5(MCM3AP):c.3933-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003906.5(MCM3AP):c.5038+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003906.5(MCM3AP):c.528dup (p.Thr177fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 177
NM_003906.5(MCM3AP):c.5342dup (p.Asn1781fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1781
NM_003906.5(MCM3AP):c.3335+1G>ALikely pathogenic
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
DDX39BProtein interaction100%ALYREFProtein interaction100%NUP153Protein interaction100%MCM3Protein interaction99%SEM1Protein interaction97%CETN2Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Lung
100%
Bone Marrow
93%
Heart
74%
Liver
71%
Brain
68%
Gene Interaction Network
Click a node to explore
MCM3APDDX39BALYREFNUP153MCM3SEM1CETN2
PROTEIN STRUCTURE
Preparing viewer…
PDB4DHX Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.56–0.77]
RankingsWhere MCM3AP stands among ~20K protein-coding genes
  • #4,594of 20,598
    Most Researched104 Β· top quartile
  • #725of 5,498
    Most Pathogenic Variants107 Β· top quartile
  • #6,225of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedMCM3AP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
The role of LncRNA MCM3AP-AS1 in human cancer.
PMID: 36002764
Clin Transl Oncol Β· 2023
0.90
3
MCM3AP-AS1: A LncRNA Participating in the Tumorigenesis of Cancer Through Multiple Pathways.
PMID: 35156580
Mini Rev Med Chem Β· 2022
0.80
4
Long Non-Coding RNA MCM3AP-AS1: A Crucial Role in Human Malignancies.
PMID: 35783356
Pathol Oncol Res Β· 2022
0.70
5
A review on the role of MCM3AP-AS1 in the carcinogenesis and tumor progression.
PMID: 35790972
Cancer Cell Int Β· 2022
0.60