FOXD1 - forkhead box D1 Gene

Also Known as FKHL8; FREAC4; FREAC-4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2297

About FOXD1

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:73,446,266-73,448,777 (from NCBI)

This gene has 2 transcripts (splice variants), 80 orthologues and 42 paralogues.

Summary

This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]

FOXD1 Products (1)

mRNA Protein Name
NM_004472.3 NP_004463.1 forkhead box protein D1
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
7957066 GOA
enables DNA binding, bending IDA
IDA: Inferred from direct assay
7957066 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
7957066 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

FOXD1 Protein Structure

Forkhead

Forkhead: Forkhead domain (125 - 220)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 459 a.a.
Protein Preferred Names Protein Names

forkhead box protein D1

  • Forkhead, drosophila, homolog-like 8

Related Diseases

Diseases Alias
Hypertrichosis Universalis Congenita, Ambras Type
  • Ambras Syndrome

  • Hypertrichosis, Congenital Generalized

  • HTC1

  • HTC2

  • Chromosome Xq27.1 Interchromosomal Insertion Syndrome

  • Cgh

  • Hcg

  • Ambras Type Hypertrichosis Universalis Congenita

  • X-Linked Congenital Generalized Hypertrichosis

  • Congenital Generalized Hypertrichosis, Macias-Flores Type

  • Macias Flores-Garcia Cruz-Rivera Syndrome

  • Htc 1

  • Hypertrichosis Universalis Congenita Ambras Type

  • Hypertrichosis Congenital Generalized X-Linked

  • Macias-Flores Garcia-Cruz Rivera Syndrome

  • Congenital Generalized Hypertrichosis, Ambras Type

Hemophagocytic Lymphohistiocytosis, Familial, 2
  • Familial Hemophagocytic Lymphohistiocytosis 2

  • FHL2

  • Hplh2

  • Hlh2

  • Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

  • Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Ureteral Disease
  • Ureteral Diseases

  • Ureteral Disorders

  • Disorder Of Ureter

Urinary Tract Obstruction
  • Obstructive Uropathy

  • Urinary Obstruction

  • Urologic Diseases

Renal Hypodysplasia/Aplasia 1
  • Renal Agenesis

  • Renal Adysplasia

  • Renal Aplasia

  • RHDA1

  • Hereditary Renal Aplasia

  • Hra

  • Hereditary Urogenital Adysplasia

  • Hypodysplasia/Aplasia, Renal, Type 1

  • Congenital Absence Of Kidneys Syndrome

  • Congenital Absence Of Kidney

  • Aplastic Kidney

Cakut
  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1

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 FOXD1 MGD MGI:1347463
Rattus norvegicus FOXD1 RGD RGD:621712
Macaca mulatta FOXD1 VGNC VGNC:84381
Others FOXD1 NCBI