RFLNA - refilin A Gene

Homo sapiens

Also known as CFM2; FAM101A

Gene ID: 144347 | Gene type: protein coding

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

RFLNA Protein Structure

FAM101

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11873	RFLNA Human Pre-designed siRNA Set A		/	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

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