Fgd4 FYVE, RhoGEF and PH domain containing 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fgd4provided by MGI
Official Full Name: FYVE, RhoGEF and PH domain containing 4provided by MGI
Primary source: MGI:MGI:2183747
See related: Ensembl:ENSMUSG00000022788 AllianceGenome:MGI:2183747
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Frabp; ZFYVE6; 9030023J02Rik; 9330209B17Rik
Summary: This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Expression: Broad expression in CNS E18 (RPKM 3.6), whole brain E14.5 (RPKM 3.0) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A2- A3; 16 10.18 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (16234774..16418400, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (16416910..16600534, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Atorvastatin reduces IOP in ocular hypertension in vivo and suppresses ECM in trabecular meshwork perhaps via FGD4.
Title: Atorvastatin reduces IOP in ocular hypertension in vivo and suppresses ECM in trabecular meshwork perhaps via FGD4.
The enrichment of activated Cdc42 in SSeCKS-null leading edge filopodia correlated with recruitment of the Cdc42-specific guanine nucleotide exchange factor, Frabin.
Title: Suppression of chemotaxis by SSeCKS via scaffolding of phosphoinositol phosphates and the recruitment of the Cdc42 GEF, Frabin, to the leading edge.
This study demonistrated that the disease-initiating event in CMT4H is loss of a Schwann cell-specific cellular function of Frabin/Fgd4.
Title: Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-43d2 (e-PCR)
- UniSTS:257794

g3 (e-PCR), detects polymorphism
- UniSTS:258307

px-12d4 (e-PCR)
- UniSTS:258315

px-30g2 (e-PCR)
- UniSTS:257568

px-64d8 (e-PCR)
- UniSTS:258095

25.MMHAP64FLA4.seq (e-PCR)
- UniSTS:123696

px-33a1 (e-PCR)
- UniSTS:257605

px-34e1 (e-PCR)
- UniSTS:257617

px-6a2 (e-PCR)
- UniSTS:258132

px-1e5 (e-PCR)
- UniSTS:257384

px-35f1 (e-PCR)
- UniSTS:257640

UniSTS:495977 (e-PCR)
- UniSTS:495977

Avpr1b (e-PCR), detects polymorphism
- UniSTS:495977

px-45f3 (e-PCR)
- UniSTS:258415

px-72g5 (e-PCR)
- UniSTS:258181

px-60g6 (e-PCR)
- UniSTS:258437

px-8a5 (e-PCR)
- UniSTS:258463

px-8b4 (e-PCR)
- UniSTS:258464

px-24g2 (e-PCR)
- UniSTS:257457

px-24g4 (e-PCR)
- UniSTS:257458

px-59f4 (e-PCR)
- UniSTS:257988

px-9h2 (e-PCR)
- UniSTS:258246

px-61b6 (e-PCR)
- UniSTS:258032

px-42e1 (e-PCR)
- UniSTS:257778

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info	PubMed
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lamellipodium assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within microspike assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JNK cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of JUN kinase activity	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of cell shape	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: FYVE, RhoGEF and PH domain-containing protein 4

Names: Fgd1-related F-actin-binding protein; actin filament-binding protein frabin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301817.2 → NP_001288746.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC169505, CT476831, CT573014

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (5) summary

cd13236
Location:758 → 860

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:544 → 637

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:675 → 739

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

pfam00169
Location:544 → 641

PH; PH domain

pfam00621
Location:331 → 512

RhoGEF; RhoGEF domain
NM_001301818.1 → NP_001288747.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform alpha

See identical proteins and their annotated locations for NP_001288747.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. It represents the use of an alternate promoter. The resulting isoform (alpha) has a shorter N-terminus, compared to isoform 1. Variants alpha and 2 encode the same isoform (alpha).

Source sequence(s)

AC169505, AK028302, AK042588, AK149626, BQ175875, BQ445726, BQ831987, CA327140, CJ258048, CO045234, CO045914, CT573014

Consensus CDS

CCDS27986.1

UniProtKB/Swiss-Prot

A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5

UniProtKB/TrEMBL

F8WGX0

Related

ENSMUSP00000069573.8, ENSMUST00000069284.14

Conserved Domains (4) summary

cd00160
Location:207 → 391

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:637 → 739

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:423 → 516

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:554 → 618

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
NM_139232.3 → NP_631978.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform alpha

See identical proteins and their annotated locations for NP_631978.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. It represents use of an alternate promoter. The resulting isoform (alpha) has a shorter N-terminus, compared to isoform 1. Variants alpha and 2 encode the same isoform (alpha).

Source sequence(s)

AF402611, AK042588, BQ175875, BQ445726, BQ831987, CA327140, CJ120679, CJ258048, CO045234, CO045914, CT573014

Consensus CDS

CCDS27986.1

UniProtKB/Swiss-Prot

A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5

UniProtKB/TrEMBL

F8WGX0

Related

ENSMUSP00000125174.2, ENSMUST00000161861.8

Conserved Domains (4) summary

cd00160
Location:207 → 391

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:637 → 739

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:423 → 516

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:554 → 618

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

16234774..16418400 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011245874.4 → XP_011244176.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

See identical proteins and their annotated locations for XP_011244176.1

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (4) summary

cd00160
Location:163 → 347

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:593 → 695

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:379 → 472

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:510 → 574

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
XM_006522027.5 → XP_006522090.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

See identical proteins and their annotated locations for XP_006522090.1

UniProtKB/Swiss-Prot

A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (4) summary

cd00160
Location:207 → 391

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:637 → 739

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:423 → 516

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:554 → 618

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
XM_036159882.1 → XP_036015775.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (4) summary

cd00160
Location:163 → 347

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:593 → 695

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:379 → 472

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:510 → 574

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
XM_006522024.5 → XP_006522087.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X2

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (4) summary

cd00160
Location:251 → 435

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:681 → 783

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:467 → 560

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:598 → 662

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
XM_006522023.3 → XP_006522086.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X1

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (4) summary

cd00160
Location:281 → 465

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:711 → 813

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:497 → 590

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:628 → 692

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
XM_030249066.2 → XP_030104926.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (4) summary

cd00160
Location:163 → 347

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:593 → 695

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:379 → 472

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:510 → 574

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
XM_006522029.4 → XP_006522092.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

See identical proteins and their annotated locations for XP_006522092.1

UniProtKB/Swiss-Prot

A1L355, Q3UEB6, Q8BW60, Q8BZI7, Q91ZT3, Q91ZT4, Q91ZT5

UniProtKB/TrEMBL

F8WGX0

Related

ENSMUSP00000125736.2, ENSMUST00000162671.8

Conserved Domains (4) summary

cd00160
Location:207 → 391

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:637 → 739

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:423 → 516

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:554 → 618

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
XM_006522025.5 → XP_006522088.1 FYVE, RhoGEF and PH domain-containing protein 4 isoform X3

UniProtKB/TrEMBL

F8WGX0

Conserved Domains (4) summary

cd00160
Location:224 → 408

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd13236
Location:654 → 756

PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus

cd15791
Location:440 → 533

PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain

cd15741
Location:571 → 635

FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

RNA

XR_875778.3 RNA Sequence
XR_004939181.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_139233.2: Suppressed sequence

Description

NM_139233.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_139234.2: Suppressed sequence

Description

NM_139234.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.