1. Gene
  2. RFX6 - regulatory factor X6 Gene

RFX6 - regulatory factor X6 Gene

中文名称:调节因子 X6

种属: Homo sapiens

同用名: MTFS; MTCHRS; RFXDC1; dJ955L16.1

基因 ID: 222546 | 基因类型: protein coding

关于 RFX6

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:116,877,242-116,932,161 (from NCBI)

This gene has 3 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 4.5), adrenal (RPKM 2.6) and 6 other tissues.

功能概要

由该基因编码的核蛋白是转录因子调节因子 X (RFX) 家族的成员。对小鼠的研究表明,该基因是胰岛细胞分化产生胰岛素所特别需要的,而不是胰腺多肽产生细胞的分化所必需的。它调节参与 β 细胞成熟和功能的转录因子,从而限制 β 细胞分化和规范基因的表达。该基因的突变与 Mitchell-Riley 综合征有关,其特征是新生儿糖尿病伴胰腺发育不全、十二指肠和空肠闭锁以及胆囊发育不全。[RefSeq 提供,2010 年 9 月]

The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of Insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]

RFX6 基因产物(1)

mRNA Protein Name
NM_173560.4 NP_775831.2 DNA-binding protein RFX6
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
20148032 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
20148032 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
20148032 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
25497100 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

RFX6 蛋白结构

RFX_DNA_binding

RFX_DNA_binding: RFX DNA-binding domain (118 - 200)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 928 a.a.
蛋白主名 其他名称

DNA-binding protein RFX6

regulatory factor X domain-containing protein 1

RFX6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RFX6 Q8HWS3 PLEKHN1 Homo sapiens Q494U1 25416956
种属内
RFX6 Q8HWS3 SNRPC Homo sapiens Q5TAL4 25416956
种属内
RFX6 Q8HWS3 PATZ1 Homo sapiens Q9HBE1-4 32296183
种属内
RFX6 Q8HWS3 MEMO1 Homo sapiens Q9Y316 32296183
种属内
RFX6 Q8HWS3 PRKAA1 Homo sapiens Q13131 25416956
种属内
RFX6 Q8HWS3 PRKAA1 Homo sapiens Q13131 25416956
种属内
RFX6 Q8HWS3 PRKAA2 Homo sapiens P54646 25416956
种属内
RFX6 Q8HWS3 NEDD9 Homo sapiens Q14511 25416956
种属内
RFX6 Q8HWS3 VPS37C Homo sapiens A5D8V6 25416956
种属内
RFX6 Q8HWS3 SNRPB Homo sapiens P14678-2 25416956
种属内
RFX6 Q8HWS3 SNRPB Homo sapiens P14678-2 25416956
种属内
RFX6 Q8HWS3 SNRPB Homo sapiens P14678-2 25416956
种属内
RFX6 Q8HWS3 TLE5 Homo sapiens Q08117 25416956
种属内
RFX6 Q8HWS3 FRS3 Homo sapiens O43559 25416956
种属内
RFX6 Q8HWS3 FRS3 Homo sapiens O43559 25416956
种属内
RFX6 Q8HWS3 DUSP21 Homo sapiens Q9H596 32296183
种属内
RFX6 Q8HWS3 DTX2 Homo sapiens Q86UW9 25416956
种属内
RFX6 Q8HWS3 CATSPER1 Homo sapiens Q8NEC5 25416956
种属内
RFX6 Q8HWS3 CATSPER1 Homo sapiens Q8NEC5 25416956
种属内
RFX6 Q8HWS3 CATSPER1 Homo sapiens Q8NEC5 32296183
种属内
RFX6 Q8HWS3 CATSPER1 Homo sapiens Q8NEC5 25416956
种属内
RFX6 Q8HWS3 ZMYND19 Homo sapiens Q96E35 32296183
种属内
RFX6 Q8HWS3 STK16 Homo sapiens O75716 25416956
种属内
RFX6 Q8HWS3 TEKT4 Homo sapiens Q8WW24 32296183
种属内
RFX6 Q8HWS3 TENT5B Homo sapiens Q96A09 32296183
种属内
RFX6 Q8HWS3 TEKT3 Homo sapiens Q9BXF9 32296183
种属内
RFX6 Q8HWS3 DMRT3 Homo sapiens Q9NQL9 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Mitchell-Riley Syndrome

MTCHRS

Diabetes, Neonatal, With Pancreatic Hypoplasia, Intestinal Atresia, And Gallbladder Aplasia Or Hypoplasia

Diabetes Neonatal With Pancreatic Hypoplasia Intestinal Atresia And Gallbladder Aplasia Or Hypoplasia

Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome
Diabetes Mellitus

Diabetes

Jejunal Atresia

Atresia Of Small Intestine

Apple Peel Syndrome

Apple Peel Small Bowel Syndrome

Apsb

Small Intestinal Atresia

Intestinal Atresia Type Iiib

Jejunoileal Atresia

Congenital Atresia Of The Small Intestine

Small Intestine Atresia

Apple-Peel Intestinal Atresia

Familial Apple Peel Jejunal Atresia

Intestinal Atresia

Congenital Stenosis Of Small Intestine

Congenital Absence Of Small Intestine

Congenital Small Intestinal Stricture Nos

Neonatal Diabetes

Neonatal Diabetes Mellitus

Diabetes Mellitus Syndrome In Newborn Infant

Ndm

Pancreas, Annular

Annular Pancreas

Pancreas Annulare

Congenital Annular Pancreas

Diarrhea 4, Malabsorptive, Congenital

Enteric Anendocrinosis

Congenital Malabsorptive Diarrhea 4

DIAR4

Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells

Congenital Malabsorptive Diarrhoea 4

Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells

Diarrhea, Type 4, Malabsorptive, Congenital

Pancreatic Agenesis

Partial Pancreatic Agenesis

Congenital Pancreatic Agenesis

Partial Agenesis Of The Pancreas

Agenesis, Pancreatic

Pancreatic Agenesis, Congenital

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Hyperinsulinemic Hypoglycemia, Familial, 7

HHF7

Exercise-Induced Hyperinsulinemic Hypoglycemia

Exercise-Induced Hyperinsulinism

Familial Hyperinsulinemic Hypoglycemia 7

Eihi

Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency

Hyperinsulinism Due To Slc16a1 Deficiency

Hyperinsulinemic Hypoglycemia, Exercise-Induced

Exercise Induced Hyperinsulinemic Hypoglycemia

Hyperinsulinemic Hypoglycemia Exercise-Induced

Hyperinsulinemic Hypoglycemia Familial 7

Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism

Neonatal Diabetes Mellitus With Congenital Hypothyroidism

Ndh Syndrome

NDH

Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome

Permanent Neonatal Diabetes Mellitus

Pndm

Permanent Diabetes Mellitus Of Infancy

Pdmi

Neonatal Diabetes Mellitus, Permanent

Maturity-Onset Diabetes Of The Young, Type 13

Maturity-Onset Diabetes Of The Young Type 13

MODY13

Mody Type 13

Mody, Type 13

Maturity-Onset Diabetes Of The Young 13

Diabetes Of The Young, Maturity-Onset, Type 13

Maturity-Onset Diabetes Of The Young, Type 11

Maturity-Onset Diabetes Of The Young Type 11

MODY11

Maturity-Onset Diabetes Of The Young 11

Mody-11

Mody Type 11

Diabetes Of The Young, Maturity-Onset, Type 11

Intestinal Atresia
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction

Maturity-Onset Diabetes Of The Young Type 8

MODY8

Dped

Maturity-Onset Diabetes Of The Young, Type Viii

Mody Type 8

Diabetes And Pancreatic Exocrine Dysfunction

Diabetes-Pancreatic Exocrine Dysfunction Syndrome

Diabetes And Pancreatic Exocrine

Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction

Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction

Diabetes And Pancreatic Exocrine Dysfunction Syndrome

Mody-8

Diabetes Of The Young, Maturity-Onset, Type 8

Maturity-Onset Diabetes Of The Young, Type 9

Maturity-Onset Diabetes Of The Young Type 9

MODY9

Maturity-Onset Diabetes Of The Young, Type Ix

Maturity-Onset Diabetes Of The Young 9

Mody-9

Mody Type 9

Diabetes Of The Young, Maturity-Onset, Type 9

Thiamine-Responsive Megaloblastic Anemia Syndrome

TRMA

Rogers Syndrome

Thiamine-Responsive Myelodysplasia

Thiamine-Responsive Anemia Syndrome

Thiamine Metabolism Dysfunction Syndrome 1

Thmd1

Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine Responsive Megaloblastic Anemia Syndrome

Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia

Thiamine-Responsive Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Maturity-Onset Diabetes Of The Young, Type 7

Maturity-Onset Diabetes Of The Young Type 7

MODY7

Maturity-Onset Diabetes Of The Young, Type Vii

Maturity-Onset Diabetes Of The Young 7

Mody-7

Mody Type 7

Diabetes Of The Young, Maturity-Onset, Type 7

Maturity-Onset Diabetes Of The Young, Type 4

Maturity-Onset Diabetes Of The Young Type 4

MODY4

Mody, Type Iv

Mody Type 4

Mody, Type 4

Maturity-Onset Diabetes Of The Young 4

Mody-4

Diabetes Of The Young, Maturity-Onset, Type 4

Maturity-Onset Diabetes Of The Young, Type Iv

Maturity-Onset Diabetes Of The Young, Type 2

Maturity-Onset Diabetes Of The Young Type 2

MODY2

Mody Glucokinase-Related

Mody Type 2

Mody, Type 2

Mody, Glucokinase-Related

Mody, Type Ii

Maturity-Onset Diabetes Of The Young 2

Mody-2

Diabetes Of The Young, Maturity-Onset, Type 2

Diabetes Mellitus Autosomal Dominant Type Ii

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

Maturity-Onset Diabetes Of The Young, Type 10

Maturity-Onset Diabetes Of The Young Type 10

MODY10

Maturity-Onset Diabetes Of The Young 10

Mody-10

Mody Type 10

Diabetes Of The Young, Maturity-Onset, Type 10

Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1

MODY1

Mild Juvenile Diabetes Mellitus

Mody, Type I

Diabetes Mellitus Type 2

Mody Type 1

Mody, Type 1

Maturity-Onset Diabetes Of The Young 1

Mody-1

Diabetes Of The Young, Maturity-Onset, Type 1

Maturity-Onset Diabetes Of The Young, Type 6

MODY6

Maturity-Onset Diabetes Of The Young Type 6

Maturity-Onset Diabetes Of The Young 6

Mody Type 6

Mody, Type 6

Mody-6

Diabetes Of The Young, Maturity-Onset, Type 6

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3

MODY3

Mody, Type Iii

Mody Type 3

Mody, Type 3

Maturity-Onset Diabetes Of The Young 3

Mody-3

Diabetes Of The Young, Maturity-Onset, Type 3

Renal Cysts And Diabetes Syndrome

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Wolfram Syndrome

Didmoad Syndrome

Didmoad

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

Wfs

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

Didmoadud

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Udp Glucuronyl Transferase Deficiency

Crigler Najjar Syndrome

Crigler Najjar Syndrome, Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin-Ugt Deficiency

Hyperbilirubinemia, Crigler-Najjar Type I

Hblrcn1

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Hereditary Unconjugated Hyperbilirubinemia

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin-Ugt Deficiency Type 1

Crigler-Najjar Syndrome 1

CN1

Cn-I

Crigler-Najjar Syndrome Type I

Hereditary Unconjugated Hyperbilirubinaemia

Ugt Deficiency

Bilirubin Glucuronosyltransferase Deficiency

Crigler-Najjar Disease Or Syndrome

Deficiency Of Glucuronosyltransferase

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Udp Glucuronyl Transferase Deficiency

Cns - [Crigler-Najjar Syndrome]

Congenital Familial Nonhemolytic Jaundice

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

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
Bos taurus RFX6 VGNC VGNC:33898
Rattus norvegicus RFX6 RGD RGD:1307491
Canis familiaris RFX6 VGNC VGNC:45508
Macaca mulatta RFX6 VGNC VGNC:76800
Felis catus RFX6 VGNC VGNC:64587
Mus musculus RFX6 MGD MGI:2445208