Seroatlas · Human Serome Atlas

MAN2C1

Alpha-mannosidase 2C1

Also known as: MA2C1_HUMAN, MANA, MANA1

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

Protein identityUniProt · HPA

UniProt accession: Q9NTJ4
Gene: MAN2C1
Ensembl: ENSG00000140400
Chromosome: 15
Canonical length: 1040 aa
Protein class: Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Predicted to enable alpha-mannosidase activity. Predicted to be involved in oligosaccharide catabolic process. Located in nucleoplasm. Implicated in congenital disorder of deglycosylation 2. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1040 residues, UniProt reviewed canonical sequence.

>Q9NTJ4|MAN2C1
     1  MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT PERLPYQEAV
    61  QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC WESDGEGLVW RDGEPVQGLT
   121  KEGEKTSYVL TDRLGERDPR SLTLYVEVAC NGLLGAGKGS MIAAPDPEKM FQLSRAELAV
   181  FHRDVHMLLV DLELLLGIAK GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR
   241  FFGQHGGESQ HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA
   301  QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF LQGQNFFLQE
   361  FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN LVNSFPHHTF FWEGLDGSRV
   421  LVHFPPGDSY GMQGSVEEVL KTVANNRDKG RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS
   481  NTDGLPRVQL SSPRQLFSAL ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL
   541  HDVELLSSLA LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR
   601  SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA LVTVPSMGYA
   661  PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP TGRLTSLVLV ASGREAIAEG
   721  AVGNQFVLFD DVPLYWDAWD VMDYHLETRK PVLGQAGTLA VGTEGGLRGS AWFLLQISPN
   781  SRLSQEVVLD VGCPYVRFHT EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN
   841  TSWDWARFEV WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG
   901  RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV SSPAVVLETV
   961  KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC DLLERPDPAG HLTLRDNRLK
  1021  LTFSPFQVLS LLLVLQPPPH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAN2C1 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): 0.2
Highest tissue expression: 63 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 63 nTPM
ovary: 55 nTPM
pituitary gland: 54 nTPM
adrenal gland: 52 nTPM
skeletal muscle: 52 nTPM
spleen: 51 nTPM

Single-cell type

proximal tubule cells: 62 nCPM
adipocytes: 57 nCPM
adrenal cortex cells: 56 nCPM
somatotrophs: 56 nCPM
cardiomyocytes: 52 nCPM
astrocytes: 51 nCPM

Immune cell

intermediate monocyte: 23 nTPM
myeloid DC: 22 nTPM
classical monocyte: 19 nTPM
non-classical monocyte: 19 nTPM
total PBMC: 14 nTPM
T-reg: 9.6 nTPM

Brain region

cerebral cortex: 38 nTPM
medulla oblongata: 37 nTPM
white matter: 34 nTPM
pons: 33 nTPM
thalamus: 31 nTPM
basal ganglia: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAN2C1.

Disease | AllUniProt

Conditions MAN2C1 is implicated in, by any mechanism.

Congenital disorder of deglycosylation 2 (CDDG2) MIM:619775

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 286 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital disorder of deglycosylation 2
Familial cancer of breast

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): 1.08
gnomAD pLI: 0
gnomAD missense Z: 0.16
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAN2C1 as an antibody target. Whether an autoantibody or antibody against MAN2C1 could matter depends on whether native MAN2C1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAN2C1 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 MAN2C1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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