Cell atlas - FGD4 - The Human Protein Atlas

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FGD4

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Actin filaments

Human cell
	Actin Filaments

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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
Summary	Localized to the actin filaments.
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Localized to the Actin filaments (supported)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA039235
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the actin filaments.

Main location

Actin filaments (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA039235	A-431	Actin filaments
	HPA039235	U-2 OS	Actin filaments	Intensity
	HPA039235	U-251 MG	Actin filaments

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 Show all	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 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0015629 [actin cytoskeleton] Show all	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 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	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 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		30 aa 3.2 kDa	No	0

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The Project

The Human Protein Atlas

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