1. Gene
  2. FMOD - fibromodulin Gene

FMOD - fibromodulin Gene

中文名称:纤维调节蛋白

种属: Homo sapiens

同用名: FM; SLRR2E

基因 ID: 2331 | 基因类型: protein coding

关于 FMOD

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,340,628-203,351,122 (from NCBI)

This gene has 4 transcripts (splice variants), 254 orthologues and 10 paralogues. Broad expression in gall bladder (RPKM 78.8), fat (RPKM 77.4) and 22 other tissues.

功能概要

纤维调节蛋白属于小间质蛋白聚糖家族。编码的蛋白质具有一个中央区域,其中包含富含亮氨酸的重复序列和 4 条硫酸角质素链,两侧是包含二硫键的末端结构域。由于与 I 型和 II 型胶原原纤维的相互作用以及原纤维形成的体外抑制,编码的蛋白质可能在细胞外基质的组装中发挥作用。它还可以通过将 TGF-β 螯合到细胞外基质中来调节 TGF-β 活性。该基因的序列变异可能与高度近视的发病机制有关。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 6 月]

Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II Collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

FMOD 基因产物(1)

mRNA Protein Name
NM_002023.5 NP_002014.2 fibromodulin precursor

FMOD 蛋白结构

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (75 - 104)

LRR_8

LRR_8: Leucine rich repeat (106 - 167)

LRR_8

LRR_8: Leucine rich repeat (177 - 235)

LRR_8

LRR_8: Leucine rich repeat (245 - 305)

LRR_6

LRR_6: Leucine Rich repeat (312 - 334)

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

fibromodulin

KSPG fibromodulin

重组 FMOD 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75186 Fibromodulin Protein, Human (HEK293, hFc) Q06828/NP_002014.2 (Q19-I376) ≥95%

关联疾病

疾病名称 别名
Pseudoachondroplasia

PSACH

Pseudoachondroplastic Dysplasia

Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

Pseudoachondroplastic Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Refractive Error

Refractive Errors

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia

CMDD

Cmdj

Cmd

Autosomal Dominant Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Jackson Type

Craniometaphyseal Dysplasia Jackson Type

Autosomal Recessive Craniometaphyseal Dysplasia

Cmdr

Dysplasia, Craniometaphyseal, Autosomal Dominant

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Cornea Plana

Flat Cornea

Calcific Tendinitis

Calcific Tendinitis Nos

Corneal Dystrophy, Posterior Amorphous

Posterior Amorphous Corneal Dystrophy

PACD

Chromosome 12q21.33 Deletion Syndrome

Posterior Amorphous Stromal Dystrophy

Macular Dystrophy, Corneal

Macular Corneal Dystrophy

MCD

Corneal Dystrophy, Macular Type

Groenouw Type Ii Corneal Dystrophy

Fehr Corneal Dystrophy

Macular Dystrophy, Corneal Type 1

Mcdc1

Macular Corneal Dystrophy Type Ii

Macular Corneal Dystrophy, Type Ii

Macular Corneal Dystrophy, Type I

Mcdc1, Formerly

Macular Dystrophy, Corneal, 1

Macular Corneal Dystrophy Type 1

Corneal Dystrophy Groenouw Type Ii

Corneal Dystrophy Macular Type

Macular Corneal Dystrophy Type I

Dystrophy, Macular, Corneal

Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Kniest Dysplasia

Kniest Syndrome

Metatropic Dwarfism, Type Ii

Kniest Chondrodystrophy

Metatropic Dysplasia Type Ii

Swiss Cheese Cartilage Dysplasia

KD

Ks

Metatropic Dwarfism Type Ii

Dysplasia, Kniest

Discitis
Stromal Dystrophy
Fibrochondrogenesis

Fbcg1

Fbcg2

Fibrochondrogenesis-1

Fibrochondrogenesis-2

Fibrochondrogenesis 1

Fibrochondrogenesis 2

Tendinitis

Tendinopathy

Marshall Syndrome

MRSHS

Deafness, Myopia, Cataract, Saddle Nose-Marshall Type

Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis

Pfapa Syndrome

Pfapa

Marshall Syndrome With Periodic Fever

Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome

Corneal Dystrophy, Congenital Stromal

Congenital Stromal Corneal Dystrophy

CSCD

Congenital Hereditary Stromal Dystrophy

Congenital Hereditary Stromal Dystrophy Of The Cornea

Congenital Stromal Dystrophy Of The Cornea

Dacs

Decorin-Associated Congenital Stromal Corneal Dystrophy

Dystrophia Corneae Parenchymatosa Congenita

Witschel Dystrophy

Dystrophy, Corneal, Stromal, Congenital

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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 FMOD VGNC VGNC:29054
Canis familiaris FMOD VGNC VGNC:40921
Mus musculus FMOD MGD MGI:1328364
Rattus norvegicus FMOD RGD RGD:619769
Felis catus FMOD VGNC VGNC:62312
Macaca mulatta FMOD VGNC VGNC:72686
Others FMOD NCBI