1. Gene
  2. AGGF1 - angiogenic factor with G-patch and FHA domains 1 Gene

AGGF1 - angiogenic factor with G-patch and FHA domains 1 Gene

Homo sapiens

Also known as VG5Q; GPATC7; GPATCH7; HSU84971; HUS84971

Gene ID: 55109 | Gene type: protein coding

About AGGF1

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:77,030,404-77,065,234 (from NCBI)

This gene has 4 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 10.3) and 25 other tissues.

Summary

This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]

AGGF1 Products(1)

mRNA Protein Name
NM_018046.5 NP_060516.2 angiogenic factor with G patch and FHA domains 1

AGGF1 Protein Structure

FHA

FHA: FHA domain (435 - 508)

G-patch

G-patch: G-patch domain (620 - 662)

  • 0
  • 200
  • 400
  • 600
  • 714 a.a.
Protein Preferred Names Protein Names

angiogenic factor with G patch and FHA domains 1

G patch domain-containing protein 7

Related Diseases

Diseases Alias
Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome

KTS

Ktw Syndrome

Angioosteohypertrophy Syndrome

Angio-Osteohypertrophy Syndrome

Klippel Trenaunay Syndrome

Klippel-Trénaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Weber-Klippel-Trenaunay

Congenital Dysplastic Angiopathy

Klippel-Trenaunay Disease

Weber Klippel Trenaunay

Metatypical Basal Cell Carcinoma

Skin Metatypical Carcinoma

Basosquamous Carcinoma Of Skin

Skin Metatypical Basal Cell Carcinoma

Frontal Convexity Meningioma
Varicose Veins

Varices

Varix

Venous Ectasia

Venous Varices

Varicosity

Angiokeratoma Circumscriptum
Venous Malformations, Multiple Cutaneous And Mucosal

VMCM

Multiple Cutaneous And Mucosal Venous Malformations

Mucocutaneous Venous Malformations

Vmcm1

Cutaneous And Mucosal Venous Malformation

Dominantly Inherited Venous Malformations

Hemangioma Of Subcutaneous Tissue

Angioma Of The Subcutaneous Tissue

Subcutaneous Haemangioma

Subcutaneous Hemangioma

Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis

Capillary Lymphangioma

Microcystic Lymphatic Malformation

Capillary Lymphatic Malformation

Microcystic Infiltrating Lymphatic Malformation

Microcystic Lymphangioma

Superficial Lymphangioma

Cutaneous Lymphangioma Circumscriptum

Superficial Lymphatic Malformation

Cutaneous Lymphangioma

Lymphangioma Of Skin

Lymphangioma Circumscriptum

Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome

Chondrodysplasia With Hemangioma

Chondroplasia Angiomatosis

Enchondromatosis With Hemangiomata

Hemangiomatosis Chondrodystrophica

Kast Syndrome

Multiple Angiomas And Endochondromas

Dyschondrodysplasia With Hemangiomas

Enchondromatosis Type Ii

Enchondromatosis With Multiple Cavernous Hemangiomas

Dyschondroplasia And Cavernous Hemangioma

Hemangiomata With Dyschondroplasia

Angiomatous Meningioma
Proteus Syndrome

Proteus Syndrome, Somatic

Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly

Wiedemann'S Syndrome

Hemihypertrophy And Macrocephaly

Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly

Ps

PROTEUSS

Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

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
Rattus norvegicus AGGF1 RGD RGD:1310888
Canis familiaris AGGF1 VGNC VGNC:37702
Mus musculus AGGF1 MGD MGI:1913799
Bos taurus AGGF1 VGNC VGNC:25727