1. Gene
  2. FLCN - folliculin Gene

FLCN - folliculin Gene

中文名称:卵泡素

种属: Homo sapiens

同用名: BHD; FLCL; DENND8B

基因 ID: 201163 | 基因类型: protein coding

关于 FLCN

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,212,212-17,237,330 (from NCBI)

This gene has 10 transcripts (splice variants), 208 orthologues and is associated with 97 phenotypes. Ubiquitous expression in endometrium (RPKM 9.4), ovary (RPKM 9.3) and 25 other tissues.

功能概要

该基因位于 17 号染色体上的 Smith-Magenis 综合征区域。该基因的突变与 Birt-Hogg-Dube 综合征相关,其特征是纤维毛囊瘤、肾肿瘤、肺囊肿和气胸。该基因的可变剪接导致编码不同亚型的两个转录变体。[RefSeq 提供,2008 年 7 月]

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

FLCN 基因产物(5)

mRNA Protein Name
NM_001353229.2 NP_001340158.1 folliculin isoform 3
NM_001353230.2 NP_001340159.1 folliculin isoform 1
NM_001353231.2 NP_001340160.1 folliculin isoform 1
NM_144606.7 NP_653207.1 folliculin isoform 2
NM_144997.7 NP_659434.2 folliculin isoform 1
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 GTPase activator activity IDA
IDA: 通过直接分析推断
24095279 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
34381247 GOA
enables enzyme inhibitor activity IDA
IDA: 通过直接分析推断
34381247 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17028174 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
17028174 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in TOR signaling IMP
IMP: 通过突变表型推断
17028174 GOA
involved in cellular response to amino acid starvation IDA
IDA: 通过直接分析推断
24095279 GOA
involved in cellular response to starvation IDA
IDA: 通过直接分析推断
24095279 GOA
involved in intracellular signal transduction IDA
IDA: 通过直接分析推断
21209915 GOA
involved in lysosome localization IDA
IDA: 通过直接分析推断
27113757 GOA
involved in negative regulation of Rho protein signal transduction IMP
IMP: 通过突变表型推断
22965878 GOA
involved in negative regulation of glycolytic process IDA
IDA: 通过直接分析推断
34381247 GOA
involved in negative regulation of lysosome organization IDA
IDA: 通过直接分析推断
37079666 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
21209915 GOA
involved in positive regulation of TOR signaling IDA
IDA: 通过直接分析推断
24081491 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
32612235 GOA
involved in positive regulation of autophagy IDA
IDA: 通过直接分析推断
25126726 GOA
involved in positive regulation of autophagy IMP
IMP: 通过突变表型推断
25126726 GOA
involved in regulation of Ras protein signal transduction IDA
IDA: 通过直接分析推断
24081491 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of FNIP-folliculin RagC/D GAP IDA
IDA: 通过直接分析推断
32612235 GOA
colocalizes with cell-cell contact zone IDA
IDA: 通过直接分析推断
22965878 GOA
located in centrosome IDA
IDA: 通过直接分析推断
23784378 GOA
located in cilium IDA
IDA: 通过直接分析推断
23784378 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
17028174 GOA
located in cytosol IDA
IDA: 通过直接分析推断
24081491 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
24081491 GOA
colocalizes with midbody IDA
IDA: 通过直接分析推断
22965878 GOA
located in mitotic spindle IDA
IDA: 通过直接分析推断
23784378 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17028174 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

FLCN 蛋白结构

Folliculin

Folliculin: Vesicle coat protein involved in Golgi to plasma membrane transport (104 - 266)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 579 a.a.
蛋白主名 其他名称

folliculin

BHD skin lesion fibrofolliculoma protein

FLCN 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
FLCN Q8NFG4 FNIP1 Homo sapiens Q8TF40 17028174
种属内
FLCN Q8NFG4 FNIP2 Homo sapiens Q9P278 18403135
种属内
FLCN Q8NFG4 FNIP2 Homo sapiens Q9P278 18403135
种属内
FLCN Q8NFG4 FNIP2 Homo sapiens Q9P278 18403135
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
Pneumothorax, Primary Spontaneous

Primary Spontaneous Pneumothorax

Spontaneous Pneumothorax

Familial Spontaneous Pneumothorax

PSP

Pneumothorax

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome

Fibrofolliculomas With Trichodiscomas And Acrochordons

BHD

Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculoma Familial

Bhd Syndrome

Birt Hogg Dube Syndrome

Hornstein-Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculomas

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Potocki-Lupski Syndrome

PTLS

Chromosome 17p11.2 Duplication Syndrome

17p11.2 Microduplication Syndrome

Duplication 17p11.2 Syndrome

Trisomy 17p11.2

Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

17p11.2 Duplication Syndrome

Dup(17)(P11.2p11.2)

Pls

Chromosome 17, Trisomy 17p11 2

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Pneumothorax

Pneumothorax Nos

Air Leak Nos

Pleural Air Leak Nos

Oncocytoma

Oxyphilic Adenoma

Follicular Adenoma, Oxyphilic Cell

Adenoma, Oxyphilic

Hurthle Cell Tumor

Oncocytic Neoplasm

Renal Oncocytoma

Oncocytoma, Renal

Oncocytoma Of Kidney

Renal Epithelial Oncocytic Tumor

Oncocytoma Kidney

Oncocytoma Renal

Kidney Oncocytoma

Pilocytic Astrocytoma

Juvenile Pilocytic Astrocytoma

Grade I Astrocytic Tumor

Piloid Astrocytoma

Hereditary Renal Cell Carcinoma
Multilocular Clear Cell Renal Cell Carcinoma

Cystadenocarcinoma Of Kidney

Renal Cystadenocarcinoma

Collecting Duct Carcinoma

Kidney Medullary Carcinoma

Renal Medullary Carcinoma

Bdc

Bellini Carcinoma

Bellini Duct Carcinoma

Cdc

Collecting Duct Carcinoma Of The Kidney

Renal Cell Adenocarcinoma

Carcinoma Of Renal Collecting Duct

Renal Carcinoma, Collecting Duct Type

Renal Cell Carcinoma

Bellini'S Duct Carcinoma

Renal Collecting Duct Carcinoma

Adenocarcinoma Of Kidney

Familial Renal Oncocytoma
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Skin Benign Neoplasm

Neoplasm Of Skin By Site

Tumor Of The Skin

Skin Tumor

Benign Neoplasm Of Skin

Skin Neoplasms

Familial Renal Papillary Carcinoma

Hereditary Papillary Renal Carcinoma

Papillary Renal Cancer Hereditary

Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1

PCLD1

Cyst

Liver Disease, Polycystic, Type 1

Polycystic Liver Disease

Kidney Cancer

Renal Cancer

Renal Carcinoma

Kidney Neoplasm

Malignant Neoplasm Of Kidney Except Pelvis

Malignant Tumour Of Kidney

Kidney Neoplasms

Cancer, Kidney

Cancer, Renal

Malignant Neoplasm Of Kidney

Renal Cell Carcinoma

Leiomyoma Cutis

Cutaneous Leiomyoma

Leiomyoma Of The Skin

Dermis Tumor

Dermis Tumour

Neoplasm Of Dermis

Tumor Of Dermis

Tumour Of Dermis

Cowden Syndrome 4

CWS4

Cowden Syndrome, Type 4

Pleural Disease

Pleural Diseases

Disorder Of Pleura

Non-Neoplastic Pleural Disease

Pleural Disorders

Non-Neoplastic Pleural Disorder

Skin Tag

Fibroepithelial Polyp

Fibroepithelial Polyp Of Skin

Soft Fibroma

Skin Tags

Cutaneous Tag

Gardner Fibroma

Acrochordon

Fibroma Molle

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

Cutaneous Leiomyosarcoma

Leiomyosarcoma Of The Skin

Tuberous Sclerosis

Tuberous Sclerosis Syndrome

Bourneville'S Disease

Epiloia

Cerebral Sclerosis

Tuberose Sclerosis

Tuberous Sclerosis 1

Bourneville Disease

Bourneville Phakomatosis

Pringle'S Disease

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Parathyroid Oncocytic Adenoma

Parathyroid Gland Oncocytic Adenoma

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Angiolipoma
Leiomyomatosis
Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Tibial Adamantinoma

Tibial Adamantinoma Morphology

Langerhans Cell Histiocytosis

Histiocytosis X

Lch

Langerhans Cell Granulomatosis

Langerhans-Cell Histiocytosis

Letterer-Siwe Disease

Hashimoto-Pritzger Disease

Histiocytosis, Langerhans-Cell

Langerhan'S Cell Histiocytosis

Letterer-Siwe Disease Involving Intra-Abdominal Lymph Nodes

Letterer-Siwe Disease Involving Intrapelvic Lymph Nodes

Letterer-Siwe Disease Involving Intrathoracic Lymph Nodes

Letterer-Siwe Disease Involving Lymph Nodes Of Axilla And Upper Limb

Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face And Neck

Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face, And Neck

Letterer-Siwe Disease Involving Lymph Nodes Of Inguinal Region And Lower Limb

Letterer-Siwe Disease Involving Lymph Nodes Of Multiple Sites

Letterer-Siwe Disease Involving Spleen

Letterer-Siwe Disease Of Intra-Abdominal Lymph Nodes

Letterer-Siwe Disease Of Intrapelvic Lymph Nodes

Letterer-Siwe Disease Of Intrathoracic Lymph Nodes

Letterer-Siwe Disease Of Lymph Nodes Of Axilla And Upper Limb

Letterer-Siwe Disease Of Lymph Nodes Of Axilla And/Or Upper Limb

Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And Neck

Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And/Or Neck

Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region Amd/Or Lower Limb

Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And Lower Limb

Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb

Letterer-Siwe Disease Of Lymph Nodes Of Multiple Sites

Letterer-Siwe Disease Of Spleen

Familial Letterer-Siwe Disease

Langerhans-Cell Histiocytosis Nos

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease

Vhl

Vhl Syndrome

VHLS

Von Hippel-Lindau Syndrome, Modifier Of

Hippel Lindau Syndrome

Angiomatosis Retinae

Cerebelloretinal Angiomatosis, Familial

Hippel-Lindau Disease

Familial Cerebelloretinal Angiomatosis

Lindau Disease

VHLD

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

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 FLCN MGD MGI:2442184
Macaca mulatta FLCN VGNC VGNC:97770
Felis catus FLCN VGNC VGNC:99058
Rattus norvegicus FLCN RGD RGD:735088
Canis familiaris FLCN VGNC VGNC:101442
Bos taurus FLCN VGNC VGNC:101448