Seroatlas · Human Serome Atlas

GNE

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Also known as: GLCNE_HUMAN, IBM2, Uae1

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

Protein identityUniProt · HPA

UniProt accession
Q9Y223
Gene
GNE
Ensembl
ENSG00000159921
Chromosome
9
Canonical length
722 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Cytosol
Quaternary structure
Homohexamer

OverviewNCBI Gene

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

722 residues, UniProt reviewed canonical sequence.

>Q9Y223|GNE
     1  MEKNGNNRKL RVCVATCNRA DYSKLAPIMF GIKTEPEFFE LDVVVLGSHL IDDYGNTYRM
    61  IEQDDFDINT RLHTIVRGED EAAMVESVGL ALVKLPDVLN RLKPDIMIVH GDRFDALALA
   121  TSAALMNIRI LHIEGGEVSG TIDDSIRHAI TKLAHYHVCC TRSAEQHLIS MCEDHDRILL
   181  AGCPSYDKLL SAKNKDYMSI IRMWLGDDVK SKDYIVALQH PVTTDIKHSI KMFELTLDAL
   241  ISFNKRTLVL FPNIDAGSKE MVRVMRKKGI EHHPNFRAVK HVPFDQFIQL VAHAGCMIGN
   301  SSCGVREVGA FGTPVINLGT RQIGRETGEN VLHVRDADTQ DKILQALHLQ FGKQYPCSKI
   361  YGDGNAVPRI LKFLKSIDLQ EPLQKKFCFP PVKENISQDI DHILETLSAL AVDLGGTNLR
   421  VAIVSMKGEI VKKYTQFNPK TYEERINLIL QMCVEAAAEA VKLNCRILGV GISTGGRVNP
   481  REGIVLHSTK LIQEWNSVDL RTPLSDTLHL PVWVDNDGNC AALAERKFGQ GKGLENFVTL
   541  ITGTGIGGGI IHQHELIHGS SFCAAELGHL VVSLDGPDCS CGSHGCIEAY ASGMALQREA
   601  KKLHDEDLLL VEGMSVPKDE AVGALHLIQA AKLGNAKAQS ILRTAGTALG LGVVNILHTM
   661  NPSLVILSGV LASHYIHIVK DVIRQQALSS VQDVDVVVSD LVDPALLGAA SMVLDYTTRR
   721  IY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNE 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)
0.23
Highest tissue expression
85 nTPM

Expression across tissuesHPA

Tissue

  • liver: 85 nTPM
  • salivary gland: 52 nTPM
  • rectum: 45 nTPM
  • colon: 32 nTPM
  • breast: 15 nTPM
  • bone marrow: 15 nTPM

Single-cell type

  • hepatocytes: 162 nCPM
  • salivary acinar cells: 141 nCPM
  • goblet cells: 139 nCPM
  • epicardial cells: 114 nCPM
  • respiratory secretory cells: 89 nCPM
  • salivary duct cells: 82 nCPM

Immune cell

  • naive CD8 T-cell: 1.2 nTPM
  • naive CD4 T-cell: 1 nTPM
  • memory CD4 T-cell: 0.9 nTPM
  • naive B-cell: 0.9 nTPM
  • memory CD8 T-cell: 0.8 nTPM
  • non-classical monocyte: 0.8 nTPM

Brain region

  • white matter: 26 nTPM
  • cerebellum: 24 nTPM
  • pons: 24 nTPM
  • choroid plexus: 22 nTPM
  • medulla oblongata: 21 nTPM
  • midbrain: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNE.

Disease | AllUniProt

Conditions GNE is implicated in, by any mechanism.

Disease | GeneticClinVar

223 pathogenic / likely-pathogenic of 1,239 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.16
gnomAD pLI
0
gnomAD missense Z
2.59
DepMap mean gene effect
-0.06
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

  • ATPase, nucleotide binding domain
  • ROK family
  • UDP-N-acetylglucosamine 2-epimerase domain
  • Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
  • ROK family
  • UDP-N-acetylglucosamine 2-epimerase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Canonical record: https://seroatlas.com/gene/GNE. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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