1. Gene
  2. FGD6 - FYVE, RhoGEF and PH domain containing 6 Gene

FGD6 - FYVE, RhoGEF and PH domain containing 6 Gene

Homo sapiens

Also known as ZFYVE24

Gene ID: 55785 | Gene type: protein coding

About FGD6

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:95,076,749-95,217,467 (from NCBI)

This gene has 7 transcripts (splice variants), 263 orthologues and 10 paralogues. Ubiquitous expression in skin (RPKM 3.9), gall bladder (RPKM 3.5) and 25 other tissues.

Summary

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in several processes, including filopodium assembly; regulation of GTPase activity; and regulation of cell shape. Predicted to be located in Golgi apparatus; lamellipodium; and ruffle. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

FGD6 Products(1)

mRNA Protein Name
NM_018351.4 NP_060821.3 FYVE, RhoGEF and PH domain-containing protein 6
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FGD6 Protein Structure

RhoGEF

RhoGEF: RhoGEF domain (875 - 1059)

PH

PH: PH domain (1092 - 1182)

FYVE

FYVE: FYVE zinc finger (1218 - 1281)

PH

PH: PH domain (1336 - 1426)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1430 a.a.
Protein Preferred Names Protein Names

FYVE, RhoGEF and PH domain-containing protein 6

zinc finger FYVE domain-containing protein 24

FGD6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
FGD6 Q6ZV73 YWHAH Homo sapiens Q04917
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Aarskog-Scott Syndrome

Aarskog Syndrome

Faciogenital Dysplasia

Faciodigitogenital Syndrome

AAS

Fgdy

X-Linked Aarskog Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic 16

Aarskog Syndrome, X-Linked

Intellectual Developmental Disorder, X-Linked Syndromic 16

Greig'S Syndrome

Aarskog Scott Syndrome

Aarskog Disease

Scott Aarskog Syndrome

Facio-Digito-Genital Dysplasia

Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

Aarskog-Scott Syndrome ) Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta FGD6 VGNC VGNC:72548
Bos taurus FGD6 VGNC VGNC:28969
Felis catus FGD6 VGNC VGNC:62244
Mus musculus FGD6 MGD MGI:1261419
Canis familiaris FGD6 VGNC VGNC:40838
Rattus norvegicus FGD6 RGD RGD:1565609