1. Gene
  2. RFLNB - refilin B Gene

RFLNB - refilin B Gene

中文名称:再生素 B

种属: Homo sapiens

同用名: CFM1; FAM101B

基因 ID: 359845 | 基因类型: protein coding

关于 RFLNB

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:439,978-445,940 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 203 orthologues and 1 paralogue. Biased expression in bone marrow (RPKM 60.7), fat (RPKM 15.4) and 13 other tissues.

功能概要

启用细丝蛋白结合活性。预计参与多个过程,包括肌动蛋白丝束组织;参与骨成熟的骨矿化的负调节;和软骨细胞发育的负调控。预测作用于肌动蛋白细胞骨架组织的上游或内部以及上皮间充质转化。预测位于肌动蛋白细胞骨架中。预测在肌动蛋白丝束中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Enables filamin binding activity. Predicted to be involved in several processes, including actin filament bundle organization; negative regulation of bone mineralization involved in bone maturation; and negative regulation of chondrocyte development. Predicted to act upstream of or within actin Cytoskeleton organization and epithelial to mesenchymal transition. Predicted to be located in actin Cytoskeleton. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Apr 2022]

RFLNB 基因产物(1)

mRNA Protein Name
NM_182705.2 NP_874364.1 refilin-B
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 filamin binding IDA
IDA: 通过直接分析推断
21709252 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

RFLNB 蛋白结构

FAM101

FAM101: FAM101 family (6 - 133)

  • 0
  • 100
  • 144 a.a.
蛋白主名 其他名称

refilin-B

family with sequence similarity 101, member B

关联疾病

疾病名称 别名
Orofaciodigital Syndrome X

OFD10

Orofaciodigital Syndrome With Fibular Aplasia

Oral-Facial-Digital Syndrome With Fibular Aplasia

Ofds X

Oral-Facial-Digital Syndrome, Type X

Orofaciodigital Syndrome 10

Ofd Syndrome 10

Ofds 10

Oral Facial Digital Syndrome 10

Oral Facial Digital Syndrome Type 10

Oral-Facial-Digital Syndrome 10

Orofaciodigital Syndrome Type Figuera

Orofaciodigital Syndrome Type 10

Figuera Syndrome

Oral-Facial-Digital Syndrome Type 10

Simpson-Golabi-Behmel Syndrome, Type 1

Simpson-Golabi-Behmel Syndrome Type 1

Simpson-Golabi-Behmel Syndrome

SGBS1

Golabi-Rosen Syndrome

Simpson Dysmorphia Syndrome

Sgbs

Bulldog Syndrome

Dgsx

Sdys

Dysplasia Gigantism Syndrome, X-Linked

X-Linked Dysplasia Gigantism Syndrome

Dgsx Golabi-Rosen Syndrome

Sara Angers Syndrome

Sgb Syndrome

Mental Retardation-Overgrowth Syndrome

Simpson Dysplasia Syndrome

Simpson Syndrome

Simpson-Golabi-Behmel Syndrome 1

Dysplasia Gigantism Syndrome X-Linked

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Spondylocarpotarsal Synostosis Syndrome

SCT

Spondylocarpotarsal Syndrome

Vertebral Fusion With Carpal Coalition

Congenital Scoliosis With Unilateral Unsegmented Bar

Congenital Synspondylism

Spondylocarpotarsal Synostosis

Synspondylism, Congenital

Scoliosis, Congenital, With Unilateral Unsegmented Bar

Scoliosis, Congenital With Unilateral Unsegmented Bar

Synspondylism Congenital

Sct Syndrome

Synspondylism

Otopalatodigital Syndrome, Type I

Otopalatodigital Syndrome Type 1

Taybi Syndrome

OPD1

Opd Syndrome 1

Oto-Palato-Digital Syndrome Type 1

Opd I Syndrome

Oto-Palato-Digital Syndrome, Type I

Otopalatodigital Syndrome Type I

Opd Syndrome

Cranioorodigital Syndrome

Faciopalatoosseous Syndrome

Fpo

Opd Syndrome, Type 1

Otopalatodigital Syndrome 1

Melnick-Needles Syndrome

MNS

Melnick-Needles Osteodysplasty

Osteodysplasty Of Melnick And Needles

Osteochondrodysplasias

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 RFLNB VGNC VGNC:58403
Macaca mulatta RFLNB VGNC VGNC:104645
Mus musculus RFLNB MGD MGI:1923816
Rattus norvegicus RFLNB RGD RGD:1359691
Felis catus RFLNB VGNC VGNC:99432
Canis familiaris RFLNB VGNC VGNC:45498