Seroatlas · Human Serome Atlas

MAU2

MAU2 chromatid cohesion factor homolog

Also known as: KIAA0892, mau-2, MAU2L, MGC75361, SCC4, SCC4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9Y6X3
Gene: MAU2
Ensembl: ENSG00000129933
Chromosome: 19
Canonical length: 613 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

Enables cohesin loader activity. Involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

613 residues, UniProt reviewed canonical sequence.

>Q9Y6X3|MAU2
     1  MAAQAAAAAQ AAAAQAAQAE AADSWYLALL GFAEHFRTSS PPKIRLCVHC LQAVFPFKPP
    61  QRIEARTHLQ LGSVLYHHTK NSEQARSHLE KAWLISQQIP QFEDVKFEAA SLLSELYCQE
   121  NSVDAAKPLL RKAIQISQQT PYWHCRLLFQ LAQLHTLEKD LVSACDLLGV GAEYARVVGS
   181  EYTRALFLLS KGMLLLMERK LQEVHPLLTL CGQIVENWQG NPIQKESLRV FFLVLQVTHY
   241  LDAGQVKSVK PCLKQLQQCI QTISTLHDDE ILPSNPADLF HWLPKEHMCV LVYLVTVMHS
   301  MQAGYLEKAQ KYTDKALMQL EKLKMLDCSP ILSSFQVILL EHIIMCRLVT GHKATALQEI
   361  SQVCQLCQQS PRLFSNHAAQ LHTLLGLYCV SVNCMDNAEA QFTTALRLTN HQELWAFIVT
   421  NLASVYIREG NRHQEVLYSL LERINPDHSF PVSSHCLRAA AFYVRGLFSF FQGRYNEAKR
   481  FLRETLKMSN AEDLNRLTAC SLVLLGHIFY VLGNHRESNN MVVPAMQLAS KIPDMSVQLW
   541  SSALLRDLNK ACGNAMDAHE AAQMHQNFSQ QLLQDHIEAC SLPEHNLITW TDGPPPVQFQ
   601  AQNGPNTSLA SLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAU2 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): 0.25
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 36 nTPM
cerebellum: 30 nTPM
ovary: 24 nTPM
spleen: 22 nTPM
skin: 22 nTPM
pituitary gland: 21 nTPM

Single-cell type

myonuclei: 190 nCPM
neutrophils: 150 nCPM
neutrophil progenitors: 98 nCPM
thyrotrophs: 97 nCPM
oligodendrocytes: 80 nCPM
lactotrophs: 76 nCPM

Immune cell

non-classical monocyte: 11 nTPM
neutrophil: 10 nTPM
MAIT T-cell: 6.8 nTPM
NK-cell: 6.4 nTPM
total PBMC: 6.1 nTPM
gdT-cell: 6 nTPM

Brain region

white matter: 43 nTPM
cerebral cortex: 33 nTPM
medulla oblongata: 32 nTPM
basal ganglia: 29 nTPM
pons: 28 nTPM
thalamus: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAU2.

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 74 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

De Lange syndrome
CORNELIA DE LANGE SYNDROME 7
MAU2-related chromatinopathy
See cases

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 4.03
DepMap mean gene effect: -0.42
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

cohesin loader activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Tetratricopeptide-like helical domain superfamily
Tetratricopeptide repeat
Chromatid cohesion factor MAU2
Cohesin loading factor

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAU2 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 MAU2 as an antibody target. Whether an autoantibody or antibody against MAU2 could matter depends on whether native MAU2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAU2 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 MAU2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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