MAD2L2
Mitotic spindle assembly checkpoint protein MAD2B
Also known as: FANCV, MAD2B, MD2L2_HUMAN, POLZ2, REV7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UI95
- Gene
- MAD2L2
- Ensembl
- ENSG00000116670
- Chromosome
- 1
- Canonical length
- 211 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
211 residues, UniProt reviewed canonical sequence.
>Q9UI95|MAD2L2
1 MTTLTRQDLN FGQVVADVLC EFLEVAVHLI LYVREVYPVG IFQKRKKYNV PVQMSCHPEL
61 NQYIQDTLHC VKPLLEKNDV EKVVVVILDK EHRPVEKFVF EITQPPLLSI SSDSLLSHVE
121 QLLRAFILKI SVCDAVLDHN PPGCTFTVLV HTREAATRNM EKIQVIKDFP WILADEQDVH
181 MHDPRLIPLK TMTSDILKMQ LYVEERAHKG SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MAD2L2 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)
- 0.28
- Highest tissue expression
- 65 nTPM
Expression across tissuesHPA
Tissue
- testis: 65 nTPM
- bone marrow: 56 nTPM
- skeletal muscle: 51 nTPM
- thymus: 51 nTPM
- liver: 51 nTPM
- pancreas: 41 nTPM
Single-cell type
- late spermatids: 941 nCPM
- late primary spermatocytes: 189 nCPM
- early spermatids: 156 nCPM
- extravillous trophoblasts: 70 nCPM
- hepatocytes: 64 nCPM
- hofbauer cells: 58 nCPM
Immune cell
- plasmacytoid DC: 139 nTPM
- myeloid DC: 101 nTPM
- intermediate monocyte: 97 nTPM
- total PBMC: 92 nTPM
- non-classical monocyte: 87 nTPM
- classical monocyte: 85 nTPM
Brain region
- thalamus: 33 nTPM
- white matter: 31 nTPM
- medulla oblongata: 31 nTPM
- hypothalamus: 28 nTPM
- cerebral cortex: 26 nTPM
- spinal cord: 25 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MAD2L2.
Disease | AllUniProt
Conditions MAD2L2 is implicated in, by any mechanism.
- Fanconi anemia, complementation group V (FANCV) MIM:617243
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 191 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Fanconi anemia complementation group V
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)
- 0.72
- gnomAD pLI
- 0.08
- gnomAD missense Z
- 1.57
- DepMap mean gene effect
- -0.87
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin filament organization
- cell division
- DNA repair
- double-strand break repair
- error-prone translesion synthesis
- mitotic spindle assembly checkpoint signaling
- negative regulation of canonical Wnt signaling pathway
- negative regulation of cell-cell adhesion mediated by cadherin
- negative regulation of double-strand break repair via homologous recombination
- negative regulation of epithelial to mesenchymal transition
- negative regulation of protein catabolic process
- negative regulation of transcription by competitive promoter binding
- negative regulation of transcription by RNA polymerase II
- negative regulation of ubiquitin protein ligase activity
- positive regulation of DNA-templated transcription
- positive regulation of double-strand break repair via nonhomologous end joining
- positive regulation of isotype switching
- positive regulation of peptidyl-serine phosphorylation
- regulation of cell growth
- somatic diversification of immunoglobulins involved in immune response
- telomere maintenance in response to DNA damage
- translesion synthesis
- DNA damage response, signal transduction resulting in transcription
Molecular functions
- JUN kinase binding
- protein-macromolecule adaptor activity
- RNA polymerase II-specific DNA-binding transcription factor binding
- transcription corepressor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MAD2L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MAD2L2 as an antibody target. Whether an autoantibody or antibody against MAD2L2 could matter depends on whether native MAD2L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MAD2L2 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 MAD2L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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