Seroatlas · Human Serome Atlas

ECHDC2

Enoyl-CoA hydratase domain-containing protein 2, mitochondrial

Also known as: ECHD2_HUMAN, FLJ10948

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

Protein identityUniProt · HPA

UniProt accession: Q86YB7
Gene: ECHDC2
Ensembl: ENSG00000121310
Chromosome: 1
Canonical length: 292 aa
Protein class: Metabolic proteins, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

Predicted to enable lyase activity. Predicted to be involved in fatty acid beta-oxidation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

292 residues, UniProt reviewed canonical sequence.

>Q86YB7|ECHDC2
     1  MLRVLCLLRP WRPLRARGCA SDGAAGGSEI QVRALAGPDQ GITEILMNRP SARNALGNVF
    61  VSELLETLAQ LREDRQVRVL LFRSGVKGVF CAGADLKERE QMSEAEVGVF VQRLRGLMND
   121  IAAFPAPTIA AMDGFALGGG LELALACDLR VAASSAVMGL IETTRGLLPG AGGTQRLPRC
   181  LGVALAKELI FTGRRLSGTE AHVLGLVNHA VAQNEEGDAA YQRARALAQE ILPQAPIAVR
   241  LGKVAIDRGT EVDIASGMAI EGMCYAQNIP TRDRLEGMAA FREKRTPKFV GK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ECHDC2 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): 0.31
Highest tissue expression: 175 nTPM

Expression across tissuesHPA

Tissue

liver: 175 nTPM
kidney: 49 nTPM
thyroid gland: 39 nTPM
adrenal gland: 35 nTPM
ovary: 29 nTPM
skeletal muscle: 29 nTPM

Single-cell type

hepatocytes: 1,510 nCPM
esophageal apical cells: 655 nCPM
cone photoreceptor cells: 431 nCPM
sertoli cells: 411 nCPM
ovarian stromal cells: 397 nCPM
myonuclei: 368 nCPM

Immune cell

T-reg: 14 nTPM
gdT-cell: 12 nTPM
memory CD8 T-cell: 11 nTPM
naive CD4 T-cell: 11 nTPM
memory CD4 T-cell: 9.9 nTPM
myeloid DC: 9.5 nTPM

Brain region

cerebellum: 5.7 nTPM
choroid plexus: 5.1 nTPM
hypothalamus: 2.8 nTPM
basal ganglia: 2.4 nTPM
amygdala: 2.3 nTPM
cerebral cortex: 2.3 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): 1.25
gnomAD pLI: 0
gnomAD missense Z: 0.09
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

fatty acid beta-oxidation

Molecular functions

Cellular components

mitochondrion

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ECHDC2 as an antibody target. Whether an autoantibody or antibody against ECHDC2 could matter depends on whether native ECHDC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ECHDC2 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 ECHDC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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