Seroatlas · Human Serome Atlas

HEPACAM

Hepatic and glial cell adhesion molecule

Also known as: FLJ25530, GLIALCAM, HECAM_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q14CZ8
Gene
HEPACAM
Ensembl
ENSG00000165478
Chromosome
11
Canonical length
416 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Vesicles
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]

Canonical amino-acid sequenceUniProt

416 residues, UniProt reviewed canonical sequence.

>Q14CZ8|HEPACAM
     1  MKRERGALSR ASRALRLAPF VYLLLIQTDP LEGVNITSPV RLIHGTVGKS ALLSVQYSST
    61  SSDRPVVKWQ LKRDKPVTVV QSIGTEVIGT LRPDYRDRIR LFENGSLLLS DLQLADEGTY
   121  EVEISITDDT FTGEKTINLT VDVPISRPQV LVASTTVLEL SEAFTLNCSH ENGTKPSYTW
   181  LKDGKPLLND SRMLLSPDQK VLTITRVLME DDDLYSCMVE NPISQGRSLP VKITVYRRSS
   241  LYIILSTGGI FLLVTLVTVC ACWKPSKRKQ KKLEKQNSLE YMDQNDDRLK PEADTLPRSG
   301  EQERKNPMAL YILKDKDSPE TEENPAPEPR SATEPGPPGY SVSPAVPGRS PGLPIRSARR
   361  YPRSPARSPA TGRTHSSPPR APSSPGRSRS ASRTLRTAGV HIIREQDEAG PVEISA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HEPACAM 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 55 nTPM
  • cerebral cortex: 53 nTPM
  • amygdala: 51 nTPM
  • spinal cord: 43 nTPM
  • hippocampal formation: 38 nTPM
  • midbrain: 37 nTPM

Single-cell type

  • bergmann glia: 268 nCPM
  • astrocytes: 265 nCPM
  • oligodendrocytes: 237 nCPM
  • oligodendrocyte progenitor cells: 131 nCPM
  • ependymal cells: 76 nCPM
  • adipocytes: 64 nCPM

Immune cell

  • basophil: 0.6 nTPM
  • MAIT T-cell: 0.2 nTPM
  • memory B-cell: 0.2 nTPM
  • naive CD4 T-cell: 0.2 nTPM
  • neutrophil: 0.2 nTPM
  • NK-cell: 0.2 nTPM

Brain region

  • medulla oblongata: 325 nTPM
  • spinal cord: 290 nTPM
  • white matter: 286 nTPM
  • basal ganglia: 278 nTPM
  • midbrain: 236 nTPM
  • thalamus: 233 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HEPACAM.

Disease | AllUniProt

Conditions HEPACAM is implicated in, by any mechanism.

  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) MIM:613925
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development (MLC2B) MIM:613926

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 326 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Megalencephalic leukoencephalopathy with subcortical cysts 2A
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
  • HEPACAM-related disorder
  • MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
  • Megalencephalic leukoencephalopathy with subcortical cysts 1

Disease | ImmuneIEDB

Conditions an epitope on HEPACAM was assayed in.

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)
0.41
gnomAD pLI
0.87
gnomAD missense Z
1.59
DepMap mean gene effect
0.12
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

HEPACAM is annotated at the cell surface, where native HEPACAM is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label HEPACAM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HEPACAM. 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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