Seroatlas · Human Serome Atlas

FGD4

FYVE, RhoGEF and PH domain-containing protein 4

Also known as: CMT4H, FGD4_HUMAN, frabin, FRABP, ZFYVE6

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

Protein identityUniProt · HPA

UniProt accession
Q96M96
Gene
FGD4
Ensembl
ENSG00000139132
Chromosome
12
Canonical length
766 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Actin filaments
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

Canonical amino-acid sequenceUniProt

766 residues, UniProt reviewed canonical sequence.

>Q96M96|FGD4
     1  MEEIKPASAS CVSKEKPSKV SDLISRFEGG SSLSNYSDLK KESAVNLNAP RTPGRHGLTT
    61  TPQQKLLSQH LPQRQGNDTD KTQGAQTCVA NGVMAAQNQM ECEEEKAATL SSDTSIQASE
   121  PLLDTHIVNG ERDETATAPA SPTTDSCDGN ASDSSYRTPG IGPVLPLEER GAETETKVQE
   181  RENGESPLEL EQLDQHHEMK ETNEQKLHKI ANELLLTERA YVNRLDLLDQ VFYCKLLEEA
   241  NRGSFPAEMV NKIFSNISSI NAFHSKFLLP ELEKRMQEWE TTPRIGDILQ KLAPFLKMYG
   301  EYVKGFDNAM ELVKNMTERI PQFKSVVEEI QKQKICGSLT LQHHMLEPVQ RIPRYEMLLK
   361  DYLRKLPPDS LDWNDAKKSL EIISTAASHS NSAIRKMENL KKLLEIYEML GEEEDIVNPS
   421  NELIKEGQIL KLAARNTSAQ ERYLFLFNNM LLYCVPKFSL VGSKFTVRTR VGIDGMKIVE
   481  TQNEEYPHTF QVSGKERTLE LQASSAQDKE EWIKALQETI DAFHQRHETF RNAIAKDNDI
   541  HSEVSTAELG KRAPRWIRDN EVTMCMKCKE PFNALTRRRH HCRACGYVVC WKCSDYKAQL
   601  EYDGGKLSKV CKDCYQIISG FTDSEEKKRK GILEIESAEV SGNSVVCSFL QYMEKSKPWQ
   661  KAWCVIPKQD PLVLYMYGAP QDVRAQATIP LLGYVVDEMP RSADLPHSFK LTQSKSVHSF
   721  AADSEELKQK WLKVILLAVT GETPGGPNEH PATLDDHPEP KKKSEC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FGD4 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)
0.41
Highest tissue expression
28 nTPM

Expression across tissuesHPA

Tissue

  • stomach: 28 nTPM
  • retina: 24 nTPM
  • liver: 17 nTPM
  • ovary: 16 nTPM
  • testis: 15 nTPM
  • parathyroid gland: 14 nTPM

Single-cell type

  • neutrophils: 4,466 nCPM
  • neutrophil progenitors: 1,728 nCPM
  • monocytes: 1,394 nCPM
  • rod photoreceptor cells: 1,140 nCPM
  • proximal tubule cells: 1,012 nCPM
  • renal collecting duct intercalated cells: 890 nCPM

Immune cell

  • eosinophil: 8.2 nTPM
  • intermediate monocyte: 5.8 nTPM
  • neutrophil: 5.2 nTPM
  • non-classical monocyte: 5.2 nTPM
  • classical monocyte: 3.5 nTPM
  • myeloid DC: 3.4 nTPM

Brain region

  • white matter: 50 nTPM
  • choroid plexus: 48 nTPM
  • medulla oblongata: 47 nTPM
  • pons: 43 nTPM
  • cerebellum: 43 nTPM
  • spinal cord: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FGD4.

Disease | AllUniProt

Conditions FGD4 is implicated in, by any mechanism.

  • Charcot-Marie-Tooth disease, demyelinating, type 4H (CMT4H) MIM:609311

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 808 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.46
gnomAD pLI
0.01
gnomAD missense Z
2.14
DepMap mean gene effect
0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FGD4 as an antibody target. Whether an autoantibody or antibody against FGD4 could matter depends on whether native FGD4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FGD4 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 FGD4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FGD4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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