1. Gene
  2. GFI1 - growth factor independent 1 transcriptional repressor Gene

GFI1 - growth factor independent 1 transcriptional repressor Gene

Homo sapiens

Also known as SCN2; GFI-1; GFI1A; ZNF163

Gene ID: 2672 | Gene type: protein coding

About GFI1

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:92,473,043-92,486,925 (from NCBI)

This gene has 9 transcripts (splice variants), 232 orthologues, 28 paralogues and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 11.4), lymph node (RPKM 2.0) and 10 other tissues.

Summary

This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

GFI1 Products(3)

mRNA Protein Name
NM_001127215.3 NP_001120687.1 zinc finger protein Gfi-1
NM_001127216.3 NP_001120688.1 zinc finger protein Gfi-1
NM_005263.5 NP_005254.2 zinc finger protein Gfi-1

GFI1 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (270 - 295)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (312 - 334)

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (340 - 350)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (355 - 378)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (382 - 405)

  • 0
  • 100
  • 200
  • 300
  • 422 a.a.
Protein Preferred Names Protein Names

zinc finger protein Gfi-1

growth factor independence-1

Related Diseases

Diseases Alias
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults

Nonimmune Chronic Idiopathic Neutropenia Of Adults

NI-CINA

Adult Idiopathic Neutropenia

Adult Chronic Idiopathic Neutropenia

Dominant Nonimmune Chronic Idiopathic Neutropenia Of Adults

Neutropenia, Nonimmune Chronic Idiopathic, Adult

Neutropenia, Severe Congenital, 2, Autosomal Dominant

SCN2

Neutropenia, Severe Congenital 2, Autosomal Dominant

Neutropenia, Severe Congenital, Autosomal Dominant 2

Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Neutropenia

Leukopenia

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Prostate Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Prostate

Bleeding Disorder, Platelet-Type, 17

Platelet-Type Bleeding Disorder 17

BDPLT17

Thrombasthenia-Thrombocytopenia, Hereditary

Hereditary Thrombasthenia-Thrombocytopenia

Autosomal Dominant Macrothrombocytopenia Gfi1b-Related

Autosomal Dominant Platelet Disorder Gfi1b-Related

Bleeding Disorder, Platelet Type 17

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Severe Congenital Neutropenia 2

Scn2

Cyclic Neutropenia

Cyclic Hematopoiesis

Cyclical Neutropenia

Neutropenia Cyclic

Cyclic Hematopoesis

Neutropenia, Cyclic

Cyclic Agranulocytosis

Neutropenia, Periodic

Cyclic Leucopenia

Periodic Neutropenia

Cyclic Haematopoiesis

CH

Hematopoiesis, Cyclic

Neutropenia, Cyclical

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Deafness, Autosomal Dominant 15

DFNA15

Autosomal Dominant Nonsyndromic Deafness 15

Autosomal Dominant Deafness 15

Deafness, Autosomal Dominant, 15

Deafness, Autosomal Dominant, Type 15

Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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
Mus musculus GFI1 MGD MGI:103170
Canis familiaris GFI1 VGNC VGNC:41181
Bos taurus GFI1 VGNC VGNC:29325
Felis catus GFI1 VGNC VGNC:62522
Macaca mulatta GFI1 VGNC VGNC:99959
Rattus norvegicus GFI1 RGD RGD:2680