Seroatlas · Human Serome Atlas

EFHD2

EF-hand domain-containing protein D2

Also known as: EFHD2_HUMAN, MGC4342

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

Protein identityUniProt · HPA

UniProt accession: Q96C19
Gene: EFHD2
Ensembl: ENSG00000142634
Chromosome: 1
Canonical length: 240 aa
Protein class: Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

Enables cadherin binding activity. Predicted to be located in membrane raft. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

240 residues, UniProt reviewed canonical sequence.

>Q96C19|EFHD2
     1  MATDELATKL SRRLQMEGEG GGETPEQPGL NGAAAAAAGA PDEAAEALGS ADCELSAKLL
    61  RRADLNQGIG EPQSPSRRVF NPYTEFKEFS RKQIKDMEKM FKQYDAGRDG FIDLMELKLM
   121  MEKLGAPQTH LGLKNMIKEV DEDFDSKLSF REFLLIFRKA AAGELQEDSG LCVLARLSEI
   181  DVSSEGVKGA KSFFEAKVQA INVSSRFEEE IKAEQEERKK QAEEMKQRKA AFKELQSTFK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFHD2 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: 0
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 164 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 164 nTPM
spleen: 133 nTPM
cerebral cortex: 96 nTPM
testis: 92 nTPM
small intestine: 91 nTPM
stomach: 87 nTPM

Single-cell type

neutrophils: 928 nCPM
pancreatic acinar cells: 455 nCPM
monocytes: 406 nCPM
foveolar cells: 395 nCPM
late spermatids: 355 nCPM
extravillous trophoblasts: 305 nCPM

Immune cell

neutrophil: 134 nTPM
eosinophil: 53 nTPM
gdT-cell: 44 nTPM
intermediate monocyte: 35 nTPM
classical monocyte: 34 nTPM
non-classical monocyte: 30 nTPM

Brain region

pons: 196 nTPM
cerebral cortex: 140 nTPM
medulla oblongata: 126 nTPM
white matter: 113 nTPM
basal ganglia: 94 nTPM
hippocampal formation: 67 nTPM

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): 1.27
gnomAD pLI: 0.01
gnomAD missense Z: 0.96
DepMap mean gene effect: -0.13
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

Molecular functions

Cellular components

membrane raft

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EFHD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CASP9

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EFHD2 as an antibody target. Whether an autoantibody or antibody against EFHD2 could matter depends on whether native EFHD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFHD2 is annotated at the cell surface, where native EFHD2 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 EFHD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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