1. Gene
  2. FOXD1 - forkhead box D1 Gene

FOXD1 - forkhead box D1 Gene

中文名称:叉头盒 D1

种属: Homo sapiens

同用名: FKHL8; FREAC4; FREAC-4

基因 ID: 2297 | 基因类型: protein coding

关于 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.

功能概要

该基因属于转录因子的叉头家族,其特征在于独特的叉头结构域。对直系同源小鼠蛋白的研究表明,它通过促进肾单位祖细胞分化在肾脏发育中发挥作用,它还在视网膜和视交叉的发育中发挥作用。它还可以调节炎症反应并防止自身免疫。[RefSeq 提供,2014 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_004472.3 NP_004463.1 forkhead box protein D1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
7957066 GOA
enables DNA binding, bending IDA
IDA: 通过直接分析推断
7957066 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
7957066 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FOXD1 蛋白结构

Forkhead

Forkhead: Forkhead domain (125 - 220)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 459 a.a.
蛋白主名 其他名称

forkhead box protein D1

Forkhead, drosophila, homolog-like 8

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus FOXD1 MGD MGI:1347463
Rattus norvegicus FOXD1 RGD RGD:621712
Macaca mulatta FOXD1 VGNC VGNC:84381