RFLNB (refilin B)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
359845
Gene name Gene Name - the full gene name approved by the HGNC.
Refilin B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFLNB
Synonyms (NCBI Gene) Gene synonyms aliases
CFM1, FAM101B
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CFM1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT710719 hsa-miR-888-5p HITS-CLIP 19536157
MIRT710718 hsa-miR-4691-3p HITS-CLIP 19536157
MIRT710717 hsa-miR-3157-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0001837 Process Epithelial to mesenchymal transition IEA
GO:0005737 Component Cytoplasm IEA
GO:0031005 Function Filamin binding IBA 21873635
GO:0031005 Function Filamin binding IDA 21709252
GO:0032432 Component Actin filament bundle IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615928 28705 ENSG00000183688
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N5W9
Protein name Refilin-B (Regulator of filamin protein B) (RefilinB)
Protein function Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15068 FAM101 1 → 202 FAM101 family Family
Sequence
Sequence length 214
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 27989131
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Neoplasms Associate 35065254, 36155774