Seroatlas · Human Serome Atlas

EFHC2

EF-hand domain-containing family member C2

Also known as: EFHC2_HUMAN, FLJ22843, MRX74

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

Protein identityUniProt · HPA

UniProt accession: Q5JST6
Gene: EFHC2
Ensembl: ENSG00000183690
Chromosome: X
Canonical length: 749 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

749 residues, UniProt reviewed canonical sequence.

>Q5JST6|EFHC2
     1  MALPLLPGNS FNRNVGKEKF HKSQHWGFCN NVMMLVSDEK PGIGGEPLLG QKIKPKCSIY
    61  PKGDGSDVPS WVAFDKQVLS FDAYLEEEVL DKSQTNYRIR YYKIYFYPED DTIQVNEPEV
   121  KNSGLLQGTS IRRHRITLPP PDEDQFYTVY HFNVGTEVVF YGRTFKIYDC DAFTRNFLRK
   181  IGVKVNPPVQ CPEDPYMKIR REVVEHVEPL RPYESLDTLK QFLQYHGKIL CFFCLWDDSV
   241  SMFGDRRELI LHYFLCDDTI EIKELLPHSS GRDALKMFLR RSKLPKNCPP RVYQPGQITD
   301  RAVLNSYGDF IKNQADGYLF DRYKLGKVDQ EFYKDSDLSL GVTINVWGRK VLLYDCDEFT
   361  KSYYKSKYGI ENFTSVSCKP PSPPPKIERK FPPYNGFGSE EDSLRNCIDL KPTPHRRNFK
   421  KFMEKDSYGS KSNILRFFAK LVTDKCVDLD RMFVISYYLG DDTISVFEPI ERNSGIAGGM
   481  FLKRSRVKKP GQEVFKSELS EYIKAEELYI GVTVNVNGYL FRLLNADEYT LNYMEQNTDK
   541  YPFSNLKLAL QKLKQEEGKS RELKQVFKAA DSKHTNMVDY NTFRDILMSL TVGNLAEQEF
   601  VTIARHYRVP EGTCSDMDFL IALAHEKFKK NMFENFDTFI YSCVYEDREK KNVLPTKDIK
   661  RLCKSSRLPL SDDLLESLLS RFEDSEKQID YKSFFSALNW RKNPVPELQP ASYLKERCED
   721  VWLGMPSPIP AKYIDYWTFL KDAFGLEEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFHC2 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): 0.37
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 26 nTPM
fallopian tube: 14 nTPM
salivary gland: 7.7 nTPM
testis: 6.3 nTPM
endometrium: 3.4 nTPM
seminal vesicle: 3.4 nTPM

Single-cell type

choroid plexus epithelial cells: 393 nCPM
ependymal cells: 361 nCPM
respiratory ciliated cells: 297 nCPM
fallopian tube ciliated cells: 237 nCPM
endometrial ciliated cells: 187 nCPM
epididymal efferent duct ciliated cells: 147 nCPM

Immune cell

basophil: 16 nTPM
NK-cell: 5.8 nTPM
gdT-cell: 1.5 nTPM
neutrophil: 1.5 nTPM
total PBMC: 0.9 nTPM
naive CD8 T-cell: 0.7 nTPM

Brain region

choroid plexus: 37 nTPM
medulla oblongata: 12 nTPM
midbrain: 8.9 nTPM
spinal cord: 6.2 nTPM
thalamus: 5.9 nTPM
white matter: 5.9 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): 0.15
gnomAD pLI: 1
gnomAD missense Z: 0.62
DepMap mean gene effect: -0.05
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

calcium ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EFHC2 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 EFHC2 as an antibody target. Whether an autoantibody or antibody against EFHC2 could matter depends on whether native EFHC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFHC2 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 EFHC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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