2. Gene
  3. FLG2 - filaggrin 2 Gene

FLG2 - filaggrin 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：聚丝蛋白 2

种属: Homo sapiens

同用名: IFPS; PSS6

基因 ID: 388698 | 基因类型: protein coding

关于 FLG2

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:152,348,735-152,360,006 (from NCBI)

This gene has 1 transcript (splice variant), 68 orthologues, 3 paralogues and is associated with 2 phenotypes. Restricted expression toward skin (RPKM 248.2).

功能概要

由该基因编码的聚丝蛋白样蛋白被钙上调，被钙蛋白酶 1 蛋白水解，并参与上皮稳态。编码的蛋白质是皮肤正常角质化所必需的，该基因的缺陷与皮肤病有关。这种蛋白质还具有保护皮肤屏障的功能。事实上，除了提供物理屏障外，该蛋白质的 C 端片段还显示出对铜绿假单胞菌和大肠杆菌的抗菌活性。[RefSeq 提供，2020 年 7 月]

The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]

FLG2 基因产物(1)

mRNA Protein Name
NM_001014342.3 NP_001014364.1 filaggrin-2
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell adhesion IMP
IMP: 通过突变表型推断
29758285 GOA
involved in epidermis morphogenesis IMP
IMP: 通过突变表型推断
29505760 GOA
involved in establishment of skin barrier IEP
IEP: 通过表达模式推断
23403047 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19384417 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

FLG2 蛋白结构

S_100

S_100: S-100/ICaBP type calcium binding domain (4 - 47)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2391 a.a.
蛋白主名 其他名称

filaggrin-2

filaggrin family member 2

关联疾病

疾病名称 别名
Peeling Skin Syndrome 6

PSS6
Peeling Skin Syndrome Type A

Generalized Deciduous Skin Type A

Generalized Peeling Skin Syndrome Type A

Non-Inflammatory Generalized Peeling Skin Syndrome Type A.

Non-Inflammatory Peeling Skin Syndrome Type A

Pss Type A
Peeling Skin Syndrome

Deciduous Skin

Familial Continuous Skin Peeling Syndrome

Idiopathic Deciduous Skin

Keratosis Exfoliativa Congenita

Pss

Peeling Skin Disease

Skin Peeling Syndrome

Familial Continuous Skin Peeling

Keratolysis Exfoliativa Congenita

Exfoliation Syndrome

Keratolysis Exfoliativa
Psoriasis
Ichthyosis Vulgaris

Ichthyosis Simplex

Dominant Congenital Ichthyosiform Erythroderma

Common Ichthyosis

Fish Scale Disease

VI

Ichthyoses

Congenital Ichthyosis
Spongiotic Dermatitis
Eczema Herpeticum

Herpes Simplex Dermatitis

Herpes Simplex Eyelid Dermatitis

Kaposi Varicelliform Eruption

Herpes Simplex Dermatitis Of Eyelid

Herpes Simplex Virus Dermatitis

Herpes Simplex Virus Eyelid Dermatitis
Pinguecula
Conjunctival Degeneration
Large Congenital Melanocytic Nevus

Giant Pigmented Hairy Nevus

Giant Congenital Melanocytic Nevus

Gmn

Congenital Pigmented Nevus

Lcmn

Gphn

Giant Congenital Nevus

Bathing Trunk Nevus

Congenital Giant Pigmented Nevus

Congenital Hairy Nevus

Giant Hairy Nevus

Giant Pigmented Nevus

Congenital Giant Pigmented Nevus Of Skin

Congenital Melanocytic Nevus Syndrome

Giant Congenital Melanocytic Nevi

Giant Congenital Pigmented Nevus

Melanocytic Nevus Syndrome, Congenital
Dermatitis, Atopic

Atopic Dermatitis

Atopic Eczema

Dermatitis, Atopic, Susceptibility To, 1

Atod

Eczema, Atopic

Dermatitis, Atopic 1

Allergic Dermatitis

Atopic Neurodermatitis

Besnier'S Prurigo

Dermatitis, Atopic, 1

Dermatitis Atopic

Eczema

Besnier Prurigo
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04976 FLG2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus FLG2 MGD MGI:3645678
Rattus norvegicus FLG2 RGD RGD:1566121
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