1. Gene
  2. RFLNB - refilin B Gene

RFLNB - refilin B Gene

Homo sapiens

Also known as CFM1; FAM101B

Gene ID: 359845 | Gene type: protein coding

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

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

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