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FGD4

GENERAL INFORMATION

Gene name

 FGD4

Gene description

 FYVE, RhoGEF and PH domain containing 4

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA039235
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical
N/ACerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin05101520253035TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin0246810RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina050100150200Tags Per Million

GENE INFORMATION

Gene name

 FGD4 (HGNC Symbol)

Synonyms

 CMT4H, frabin, FRABP, ZFYVE6

Description

 FYVE, RhoGEF and PH domain containing 4 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 12

Cytoband

 p11.21

Chromosome location (bp)

 32399529 - 32646050

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000139132 (version 83.38)

Entrez gene

 121512

UniProt

 Q96M96 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96M96

Antibodypedia

 FGD4 antibodies

PROTEIN BROWSER
FGD4-001
FGD4-005
FGD4-010
FGD4-011
FGD4-013
FGD4-015
FGD4-017

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FGD4-001
ENSP00000394487
ENST00000427716
Q96M96 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 4
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726 [ruffle]
GO:0003779 [actin binding]
GO:0005085 [guanyl-nucleotide exchange factor activity]
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0007010 [cytoskeleton organization]
GO:0007264 [small GTPase mediated signal transduction]
GO:0008360 [regulation of cell shape]
GO:0015629 [actin cytoskeleton]
GO:0030027 [lamellipodium]
GO:0030036 [actin cytoskeleton organization]
GO:0030175 [filopodium]
GO:0031267 [small GTPase binding]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043065 [positive regulation of apoptotic process]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0046847 [filopodium assembly]
GO:0046872 [metal ion binding]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0097190 [apoptotic signaling pathway]
Show all
 766 aa
86.6 kDa 		No 0
FGD4-005
ENSP00000434356
ENST00000472289
E9PQT1 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 4
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0015629 [actin cytoskeleton]
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 207 aa
22.3 kDa 		No 0
FGD4-010
ENSP00000431323
ENST00000531134
B7Z493 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 4; cDNA FLJ55905, highly similar to FYVE, RhoGEF and PH domain-containing protein 4
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0015629 [actin cytoskeleton]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
GO:0046872 [metal ion binding]
Show all
 851 aa
95.5 kDa 		No 0
FGD4-011
ENSP00000433666
ENST00000525053
E9PJX4 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 4
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0015629 [actin cytoskeleton]
GO:0030027 [lamellipodium]
GO:0030032 [lamellipodium assembly]
GO:0030035 [microspike assembly]
GO:0030175 [filopodium]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
GO:0046872 [metal ion binding]
Show all
 878 aa
98.7 kDa 		No 0
FGD4-013
ENSP00000449273
ENST00000534526
F8VWL3 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 4
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0015629 [actin cytoskeleton]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
GO:0046872 [metal ion binding]
Show all
 903 aa
101 kDa 		No 0
FGD4-015
ENSP00000446695
ENST00000546442
F8W1R0 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 4
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005089 [Rho guanyl-nucleotide exchange factor activity]
GO:0015629 [actin cytoskeleton]
GO:0035023 [regulation of Rho protein signal transduction]
GO:0043547 [positive regulation of GTPase activity]
GO:0046872 [metal ion binding]
Show all
 673 aa
76.7 kDa 		No 0
FGD4-017
ENSP00000462623
ENST00000583694
J3KSS3 [Direct mapping]
FYVE, RhoGEF and PH domain-containing protein 4
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 30 aa
3.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.