RFLNB - refilin B Gene

Also Known as CFM1; FAM101B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 359845

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_182705.2 NP_874364.1 refilin-B

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables filamin binding IDA
IDA: Inferred from direct assay
21709252 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

RFLNB Protein Structure

FAM101

FAM101: FAM101 family (6 - 133)

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

refilin-B

  • family with sequence similarity 101, member B

Related Diseases

Diseases Alias
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
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-RS11874 RFLNB Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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