2. Gene
  3. RFLNA - refilin A Gene

RFLNA - refilin A Gene

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

中文名称：再纤维蛋白 A

种属: Homo sapiens

同用名: CFM2; FAM101A

基因 ID: 144347 | 基因类型: protein coding

关于 RFLNA

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:124,289,164-124,316,024 (from NCBI)

This gene has 5 transcripts (splice variants), 186 orthologues and 1 paralogue. Biased expression in stomach (RPKM 48.3), colon (RPKM 10.5) and 2 other tissues.

功能概要

预测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。预计位于细胞质中。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]

Predicted to enable 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 be located in cytoplasm. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Apr 2022]

RFLNA 基因产物(2)

mRNA Protein Name
NM_001365156.1 NP_001352085.1 refilin-A isoform 1
NM_181709.5 NP_859060.3 refilin-A isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

RFLNA 蛋白结构

FAM101

FAM101: FAM101 family (1 - 123)

  • 0
  • 100
  • 135 a.a.
蛋白主名 其他名称

refilin-A

family with sequence similarity 101, member A

关联疾病

疾病名称 别名
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
Synostosis
D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency

Dbp Deficiency

Peroxisomal Bifunctional Enzyme Deficiency

Pbfe Deficiency

Bifunctional Enzyme Deficiency

Pseudo-Zellweger Syndrome

Zellweger-Like Syndrome

DBPD

Protein Deficiency, D-Bifunctional
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-RS11873 RFLNA Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RFLNA VGNC VGNC:56990
Mus musculus RFLNA MGD MGI:1920371
Canis familiaris RFLNA VGNC VGNC:52962
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