RFLNA - refilin A Gene

Also Known as CFM2; FAM101A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 144347

About 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.

Summary

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 Products (2)

mRNA Protein Name
NM_001365156.1 NP_001352085.1 refilin-A isoform 1
NM_181709.5 NP_859060.3 refilin-A isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RFLNA Protein Structure

FAM101

FAM101: FAM101 family (1 - 123)

  • 0
  • 100
  • 135 a.a.
Protein Preferred Names Protein Names

refilin-A

  • family with sequence similarity 101, member A

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11873 RFLNA Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus RFLNA VGNC VGNC:56990
Mus musculus RFLNA MGD MGI:1920371
Canis familiaris RFLNA VGNC VGNC:52962