ESAM

Protein identityUniProt · HPA

UniProt accession

Q96AP7

Gene

ESAM

Ensembl

ENSG00000149564

Chromosome

11

Canonical length

390 aa

Protein class

Plasma proteins, Predicted membrane proteins

Subcellular location

Cell Junctions,Cytosol

OverviewNCBI Gene

Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin filament polymerization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

390 residues, UniProt reviewed canonical sequence.

>Q96AP7|ESAM
     1  MISLPGPLVT NLLRFLFLGL SALAPPSRAQ LQLHLPANRL QAVEGGEVVL PAWYTLHGEV
    61  SSSQPWEVPF VMWFFKQKEK EDQVLSYING VTTSKPGVSL VYSMPSRNLS LRLEGLQEKD
   121  SGPYSCSVNV QDKQGKSRGH SIKTLELNVL VPPAPPSCRL QGVPHVGANV TLSCQSPRSK
   181  PAVQYQWDRQ LPSFQTFFAP ALDVIRGSLS LTNLSSSMAG VYVCKAHNEV GTAQCNVTLE
   241  VSTGPGAAVV AGAVVGTLVG LGLLAGLVLL YHRRGKALEE PANDIKEDAI APRTLPWPKS
   301  SDTISKNGTL SSVTSARALR PPHGPPRPGA LTPTPSLSSQ ALPSPRLPTT DGAHPQPISP
   361  IPGGVSSSGL SRMGAVPVMV PAQSQAGSLV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESAM 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)

0.49

Highest tissue expression

106 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ESAM.

Disease | AllUniProt

Conditions ESAM is implicated in, by any mechanism.

• Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) MIM:620371

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
• 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)

0.59

gnomAD pLI

0.2

gnomAD missense Z

-0.46

DepMap mean gene effect

0.15

DepMap dependency class

none

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

• bicellular tight junction assembly
• cell-cell adhesion
• homophilic cell adhesion via plasma membrane adhesion molecules
• intracellular protein localization
• maintenance of blood-brain barrier
• regulation of actin cytoskeleton organization
• regulation of actin filament polymerization

Molecular functions

• cell-cell adhesion mediator activity

Cellular components

• adherens junction
• bicellular tight junction
• cell-cell junction
• plasma membrane
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Immunoglobulin V-set domain
• Immunoglobulin-like fold
• Immunoglobulin-like domain superfamily
• Immunoglobulin V-set domain
• Immunoglobulin domain
• Endothelial cell-selective adhesion molecule

KeywordsUniProt

• Cell adhesion
• Cell junction
• Cell membrane
• Disulfide bond
• Glycoprotein
• Immunoglobulin domain
• Intellectual disability
• Membrane
• Phosphoprotein
• Repeat
• Signal
• Tight junction
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of ESAM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MAGI1