ARFGEF3 - ARFGEF family member 3 Gene

Also Known as BIG3; A7322; C6orf92; PPP1R33; KIAA1244; dJ171N11.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57221

About ARFGEF3

Cytogenetic location: 6q23.3-q24.1 Genomic coordinates (GRCh38): 6:138,161,939-138,344,663 (from NCBI)

This gene has 1 transcript (splice variant) and 186 orthologues. Broad expression in brain (RPKM 10.4), prostate (RPKM 8.3) and 15 other tissues.

Summary

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in actin Cytoskeleton organization. Predicted to be located in transport vesicle membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ARFGEF3 Products (1)

mRNA Protein Name
NM_020340.5 NP_065073.3 brefeldin A-inhibited guanine nucleotide-exchange protein 3

ARFGEF3 Protein Structure

DUF1981

DUF1981: Domain of unknown function (DUF1981) (1245 - 1312)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2177 a.a.
Protein Preferred Names Protein Names

brefeldin A-inhibited guanine nucleotide-exchange protein 3

  • protein phosphatase 1, regulatory subunit 33

Related Diseases

Diseases Alias
Hermansky-Pudlak Syndrome 3
  • HPS3

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

  • Delta Storage Pool Disease

  • Hermansky-Pudlak Syndrome, Type 3

  • Platelet Storage Pool Deficiency

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

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 ARFGEF3 VGNC VGNC:69877
Bos taurus ARFGEF3 VGNC VGNC:26066
Canis familiaris ARFGEF3 VGNC VGNC:38037
Mus musculus ARFGEF3 MGD MGI:106387
Rattus norvegicus ARFGEF3 RGD RGD:1309903
Felis catus ARFGEF3 VGNC VGNC:59870