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FGD4 FYVE, RhoGEF and PH domain containing 4 [ Homo sapiens (human) ]

Gene ID: 121512, updated on 11-Apr-2024

Summary

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Official Symbol
FGD4provided by HGNC
Official Full Name
FYVE, RhoGEF and PH domain containing 4provided by HGNC
Primary source
HGNC:HGNC:19125
See related
Ensembl:ENSG00000139132 MIM:611104; AllianceGenome:HGNC:19125
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMT4H; FRABP; ZFYVE6
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]
Expression
Ubiquitous expression in ovary (RPKM 8.0), stomach (RPKM 6.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
12p11.21
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (32399558..32646050)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (32275797..32522311)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32552492..32798984)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6181 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32260751-32261388 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32271849-32272465 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32273271-32273980 Neighboring gene BICD1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32284941-32285442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6185 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32308728-32309229 Neighboring gene BICD cargo adaptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32326137-32326651 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:32401528-32402727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6189 Neighboring gene MPRA-validated peak1664 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:32451501-32451672 Neighboring gene MPRA-validated peak1665 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32552038-32552978 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28311 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32552979-32553918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32553919-32554859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32554860-32555799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32558711-32559696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32563517-32564117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32572153-32573139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32590359-32590858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32597499-32598044 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32606043-32606832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4338 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32676322-32676822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32715914-32716598 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32719564-32720065 Neighboring gene uncharacterized LOC124902914 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:32827128-32828327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4339 Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene dynamin 1 like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma. Yang Y, et al. Future Oncol, 2021 Jun. PMID 33709789
  2. Expression of FGD4 positively correlates with the aggressive phenotype of prostate cancer. Bossan A, et al. BMC Cancer, 2018 Dec 17. PMID 30558664, Free PMC Article
  3. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. Hyun YS, et al. Ann Hum Genet, 2015 Nov. PMID 26400421
  4. Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Adam MP, et al. , 1993. PMID 23926620
  5. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. Boubaker C, et al. Ann Hum Genet, 2013 Jul. PMID 23550889

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma.
    Title: Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma.
  2. MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4.
    Title: MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4.
  3. Circular RNA circFGD4 suppresses gastric cancer progression via modulating miR-532-3p/APC/beta-catenin signalling pathway.
    Title: Circular RNA circFGD4 suppresses gastric cancer progression via modulating miR-532-3p/APC/β-catenin signalling pathway.
  4. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
    Title: Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
  5. Results show that the expression of FGD4 is upregulated in cancerous prostates compared to the luminal cells in benign prostatic hyperplasia and demonstrate a tumor promoting and a cell migratory function of FGD4 in prostate cancer cells. Its inhibition enhances the response for both androgen-dependent and independent prostate cancer cells towards currently used prostate cancer drugs.
    Title: Expression of FGD4 positively correlates with the aggressive phenotype of prostate cancer.
  6. FGD4 c.2044-236 A-allele carriers had an increased risk of paclitaxel dose reduction (HR per A-allele=1.38, P=0.036) when adjusted for total cumulative paclitaxel dose
    Title: Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients.
  7. identified two different pairs of novel compound heterozygous mutations in the FGD4 gene from nonconsanguineous Korean Charcot-Marie-Tooth disease type 4H families
    Title: Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
  8. Our results suggest that FGD4 should be screened in other early-onset CMT subtypes, regardless of the severity of the phenotype, and particularly in patients of consanguineous descent.
    Title: A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
  9. A single nucleotide polymorphism in FGD4 was associated with the onset of paclitaxel-induced sensory peripheral neuropathy.
    Title: A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
  10. LMP1, through its transmembrane domains, directly bound FGD4 and enhanced FGD4 activity toward Cdc42, leading to actin cytoskeleton rearrangement and increased motility of NPC cells.
    Title: Epstein-Barr virus-encoded LMP1 interacts with FGD4 to activate Cdc42 and thereby promote migration of nasopharyngeal carcinoma cells.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34370, FLJ42663, MGC57222, DKFZp313E1818, DKFZp434K1572

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in filopodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in filopodium IEA
Inferred from Electronic Annotation
more info
  
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in ruffle ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
FYVE, RhoGEF and PH domain-containing protein 4
Names
FGD1 family, member 4
FGD1-related F-actin-binding protein
actin-filament binding protein frabin
zinc finger FYVE domain-containing protein 6

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.

Genomic

  1. NG_008626.2 RefSeqGene

    Range
    91444..251522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_240

mRNA and Protein(s)

  1. NM_001304481.2 → NP_001291410.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001291410.1

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440, AC090677
    Consensus CDS
    CCDS76544.1
    UniProtKB/TrEMBL
    B7Z493, E9PJX4
    Related
    ENSP00000431323.1, ENST00000531134.7
    Conserved Domains (4) summary
    cd00160
    Location:292 → 476
    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:722 → 824
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:508 → 601
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:639 → 703
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

  2. NM_001304483.2 → NP_001291412.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 4

    See identical proteins and their annotated locations for NP_001291412.1

    Status: REVIEWED

    Source sequence(s)
    AC090440, AL832064, BC045552, BC096746, BI756188
    UniProtKB/TrEMBL
    Q49A55
    Conserved Domains (4) summary
    cd15791
    Location:175 → 268
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:306 → 370
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00621
    Location:2 → 143
    RhoGEF; RhoGEF domain
    cl17171
    Location:389 → 440
    PH-like; Pleckstrin homology-like domain

  3. NM_001304484.2 → NP_001291413.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440, AK303334, AL832064, BC096746
    UniProtKB/TrEMBL
    A0A804HK93
    Related
    ENSP00000507831.1, ENST00000683182.1
    Conserved Domains (5) summary
    cd13236
    Location:293 → 395
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:79 → 172
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:210 → 274
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:79 → 176
    PH; PH domain
    cl02571
    Location:1 → 47
    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.

  4. NM_001330373.2 → NP_001317302.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440, AK057294, AL832064, BC039708, BC096746, BI752085
    Consensus CDS
    CCDS81679.1
    UniProtKB/TrEMBL
    A0A2X0U2J9, F8W1R0
    Related
    ENSP00000446695.1, ENST00000546442.5
    Conserved Domains (4) summary
    cd00160
    Location:114 → 298
    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:544 → 646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330 → 423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461 → 525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

  5. NM_001330374.2 → NP_001317303.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440, AK057294, AK297025, AL832064, BC039708, BC096746, BI752085
    Consensus CDS
    CCDS81679.1
    UniProtKB/TrEMBL
    A0A2X0U2J9, F8W1R0
    Conserved Domains (4) summary
    cd00160
    Location:114 → 298
    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:544 → 646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330 → 423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461 → 525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

  6. NM_001370297.1 → NP_001357226.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440, AC090677
    Conserved Domains (4) summary
    cd00160
    Location:23 → 207
    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:453 → 555
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:239 → 332
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:370 → 434
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

  7. NM_001370298.3 → NP_001357227.2  FYVE, RhoGEF and PH domain-containing protein 4 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC087245, AC090440
    Consensus CDS
    CCDS91680.1
    UniProtKB/TrEMBL
    E9PJX4, F8VWL3
    Related
    ENSP00000449273.1, ENST00000534526.7
    Conserved Domains (4) summary
    cd00160
    Location:344 → 528
    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:774 → 876
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:560 → 653
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:691 → 755
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

  8. NM_001384126.1 → NP_001371055.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC087245, AC090440
    UniProtKB/TrEMBL
    E9PJX4
    Conserved Domains (4) summary
    cd00160
    Location:344 → 528
    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:774 → 876
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:560 → 653
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:691 → 755
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

  9. NM_001384127.1 → NP_001371056.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440, AC090677
    UniProtKB/TrEMBL
    A0A2X0U2J9
    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

  10. NM_001384128.1 → NP_001371057.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440
    UniProtKB/TrEMBL
    A0A2X0U2J9
    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

  11. NM_001384130.1 → NP_001371059.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440
    Consensus CDS
    CCDS81679.1
    UniProtKB/TrEMBL
    A0A2X0U2J9, F8W1R0
    Conserved Domains (4) summary
    cd00160
    Location:114 → 298
    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:544 → 646
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:330 → 423
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:461 → 525
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

  12. NM_001384131.1 → NP_001371060.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC090440, AC090677
    Consensus CDS
    CCDS91681.1
    UniProtKB/TrEMBL
    E9PNX0, E9PQT1
    Related
    ENSP00000434356.1, ENST00000472289.5

  13. NM_001384132.1 → NP_001371061.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC090440
    Consensus CDS
    CCDS91681.1
    UniProtKB/TrEMBL
    E9PNX0, E9PQT1

  14. NM_001385118.1 → NP_001372047.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440
    Consensus CDS
    CCDS8727.1
    UniProtKB/Swiss-Prot
    Q6ULS2, Q8TCP6, Q96M96
    UniProtKB/TrEMBL
    A0A2X0U2J9
    Related
    ENSP00000433666.2, ENST00000525053.6
    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

  15. NM_139241.3 → NP_640334.2  FYVE, RhoGEF and PH domain-containing protein 4 isoform 3

    See identical proteins and their annotated locations for NP_640334.2

    Status: REVIEWED

    Source sequence(s)
    AC084824, AC090440, AK057294, AL832064, BC039708, BC096746
    Consensus CDS
    CCDS8727.1
    UniProtKB/Swiss-Prot
    Q6ULS2, Q8TCP6, Q96M96
    UniProtKB/TrEMBL
    A0A2X0U2J9
    Related
    ENSP00000462623.2, ENST00000583694.2
    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

RNA

  1. NR_168884.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090440, AC090677
    Related
    ENST00000494275.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    32399558..32646050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428291.1 → XP_047284247.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X1

  2. XM_047428292.1 → XP_047284248.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X2

  3. XM_047428297.1 → XP_047284253.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

  4. XM_047428293.1 → XP_047284249.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X3

    UniProtKB/Swiss-Prot
    Q6ULS2, Q8TCP6, Q96M96

  5. XM_047428295.1 → XP_047284251.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    UniProtKB/TrEMBL
    F8W1R0
    Related
    ENSP00000507616.1, ENST00000682739.1

  6. XM_047428296.1 → XP_047284252.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    UniProtKB/TrEMBL
    F8W1R0

  7. XM_047428294.1 → XP_047284250.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    UniProtKB/TrEMBL
    F8W1R0

  8. XM_011520558.3 → XP_011518860.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X6

    Conserved Domains (5) summary
    cd13236
    Location:438 → 540
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:224 → 317
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:355 → 419
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:224 → 321
    PH; PH domain
    pfam00621
    Location:11 → 192
    RhoGEF; RhoGEF domain

  9. XM_011520559.4 → XP_011518861.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X8

    UniProtKB/TrEMBL
    Q49A55
    Conserved Domains (5) summary
    cd13236
    Location:382 → 484
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:168 → 261
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:299 → 363
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:168 → 265
    PH; PH domain
    pfam00621
    Location:21 → 136
    RhoGEF; RhoGEF domain

  10. XM_005253310.5 → XP_005253367.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X7

    UniProtKB/TrEMBL
    Q49A55
    Conserved Domains (4) summary
    cd13236
    Location:389 → 491
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd15791
    Location:175 → 268
    PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:306 → 370
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00621
    Location:2 → 143
    RhoGEF; RhoGEF domain

RNA

  1. XR_001748576.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    32275797..32522311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371087.1 → XP_054227062.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X1

  2. XM_054371088.1 → XP_054227063.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X2

  3. XM_054371089.1 → XP_054227064.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X3

    UniProtKB/Swiss-Prot
    Q6ULS2, Q8TCP6, Q96M96

  4. XM_054371091.1 → XP_054227066.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    UniProtKB/TrEMBL
    F8W1R0

  5. XM_054371092.1 → XP_054227067.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    UniProtKB/TrEMBL
    F8W1R0

  6. XM_054371090.1 → XP_054227065.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

    UniProtKB/TrEMBL
    F8W1R0

  7. XM_054371093.1 → XP_054227068.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X6

  8. XM_054371095.1 → XP_054227070.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X8

  9. XM_054371094.1 → XP_054227069.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X7

RNA

  1. XR_008488531.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001304480.1: Suppressed sequence

    Description
    NM_001304480.1: This RefSeq was removed because currently there is support for the transcript but not for the protein N-terminus.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96M96.2 GenPept UniProtKB/Swiss-Prot:Q96M96

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