Seroatlas · Human Serome Atlas

EHD2

EH domain-containing protein 2

Also known as: EHD2_HUMAN, PAST2

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

Protein identityUniProt · HPA

UniProt accession: Q9NZN4
Gene: EHD2
Ensembl: ENSG00000024422
Chromosome: 19
Canonical length: 543 aa
Protein class: Predicted intracellular proteins
Subcellular location: Plasma membrane,Primary cilium,Primary cilium transition zone
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

543 residues, UniProt reviewed canonical sequence.

>Q9NZN4|EHD2
     1  MFSWLKRGGA RGQQPEAIRT VTSALKELYR TKLLPLEEHY RFGAFHSPAL EDADFDGKPM
    61  VLVAGQYSTG KTSFIQYLLE QEVPGSRVGP EPTTDCFVAV MHGDTEGTVP GNALVVDPDK
   121  PFRKLNPFGN TFLNRFMCAQ LPNQVLESIS IIDTPGILSG AKQRVSRGYD FPAVLRWFAE
   181  RVDLIILLFD AHKLEISDEF SEAIGALRGH EDKIRVVLNK ADMVETQQLM RVYGALMWAL
   241  GKVVGTPEVL RVYIGSFWSQ PLLVPDNRRL FELEEQDLFR DIQGLPRHAA LRKLNDLVKR
   301  ARLVRVHAYI ISYLKKEMPS VFGKENKKKQ LILKLPVIFA KIQLEHHISP GDFPDCQKMQ
   361  ELLMAHDFTK FHSLKPKLLE ALDEMLTHDI AKLMPLLRQE ELESTEVGVQ GGAFEGTHMG
   421  PFVERGPDEA MEDGEEGSDD EAEWVVTKDK SKYDEIFYNL APADGKLSGS KAKTWMVGTK
   481  LPNSVLGRIW KLSDVDRDGM LDDEEFALAS HLIEAKLEGH GLPANLPRRL VPPSKRRHKG
   541  SAE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EHD2 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): 0.29
Highest tissue expression: 187 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 187 nTPM
adipose tissue: 183 nTPM
breast: 131 nTPM
endometrium: 112 nTPM
colon: 112 nTPM
lung: 99 nTPM

Single-cell type

alveolar cells type 1: 247 nCPM
pericytes: 179 nCPM
vascular smooth muscle cells: 164 nCPM
hepatic stellate cells: 136 nCPM
decidual stromal cells: 130 nCPM
peritubular myoid cells: 101 nCPM

Immune cell

neutrophil: 0.3 nTPM
basophil: 0.1 nTPM
total PBMC: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

thalamus: 39 nTPM
medulla oblongata: 37 nTPM
pons: 30 nTPM
midbrain: 28 nTPM
cerebral cortex: 26 nTPM
amygdala: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EHD2.

Disease | ImmuneIEDB

Conditions an epitope on EHD2 was assayed in.

melanoma T cell

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): 0.54
gnomAD pLI: 0.31
gnomAD missense Z: 1.88
DepMap mean gene effect: 0
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EHD2 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 EHD2 as an antibody target. Whether an autoantibody or antibody against EHD2 could matter depends on whether native EHD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EHD2 is annotated at the cell surface, where native EHD2 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 EHD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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