RFLNB

Summary

RFLNB (refilin B, HGNC:28705) is a protein-coding gene on chromosome 17p13.3, encoding Refilin-B (Q8N5W9). Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins.

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 and cytoplasm. Predicted to be active in actin filament bundle.

Source: NCBI Gene 359845 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_182705

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28705
Approved symbol	RFLNB
Name	refilin B
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC45871, RefilinB, Cfm1
Ensembl gene	ENSG00000183688
Ensembl biotype	protein_coding
OMIM	615928
Entrez	359845

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000329099

RefSeq mRNA: 1 — MANE Select: NM_182705 NM_182705

Canonical transcript exons

ENST00000329099 — 2 exons

Exon	Start	End
ENSE00001309140	439978	443494
ENSE00002475010	445836	445939

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.74.

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow	UBERON:0002371	95.74	gold quality
bone marrow cell	CL:0002092	94.32	gold quality
blood	UBERON:0000178	92.92	gold quality
leukocyte	CL:0000738	92.75	gold quality
monocyte	CL:0000576	92.71	gold quality
stromal cell of endometrium	CL:0002255	92.26	gold quality
granulocyte	CL:0000094	89.74	gold quality
placenta	UBERON:0001987	89.00	gold quality
omental fat pad	UBERON:0010414	84.93	gold quality
adipose tissue	UBERON:0001013	84.07	gold quality
vermiform appendix	UBERON:0001154	84.03	gold quality
cortical plate	UBERON:0005343	84.03	gold quality
apex of heart	UBERON:0002098	83.20	gold quality
subcutaneous adipose tissue	UBERON:0002190	83.20	gold quality
lower esophagus muscularis layer	UBERON:0035833	82.34	gold quality
lower esophagus	UBERON:0013473	82.28	gold quality
muscle layer of sigmoid colon	UBERON:0035805	81.93	gold quality
smooth muscle tissue	UBERON:0001135	81.80	gold quality
upper lobe of left lung	UBERON:0008952	81.75	gold quality
lung	UBERON:0002048	81.20	gold quality
lymph node	UBERON:0000029	81.12	gold quality
urinary bladder	UBERON:0001255	80.95	gold quality
thoracic mammary gland	UBERON:0005200	80.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.56	gold quality
calcaneal tendon	UBERON:0003701	80.33	gold quality
gall bladder	UBERON:0002110	80.18	gold quality
right lung	UBERON:0002167	80.12	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	80.03	gold quality
heart left ventricle	UBERON:0002084	79.98	gold quality
colon	UBERON:0001155	79.27	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	17.71
E-MTAB-5061	yes	6.79
E-GEOD-83139	yes	6.74
E-GEOD-124858	no	189.51
E-ANND-3	no	1.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting RFLNB, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-323A-3P	99.79	70.30	1739

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rflnb	ENSDARG00000093931
mus_musculus	Rflnb	ENSMUSG00000020846
rattus_norvegicus	Rflnb	ENSRNOG00000006674

Paralogs (1): RFLNA (ENSG00000178882)

Protein

Protein identifiers

Refilin-B — Q8N5W9 (reviewed: Q8N5W9)

Alternative names: Regulator of filamin protein B

All UniProt accessions (1): Q8N5W9

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with FLNA and FLNB.

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the Refilin family.

RefSeq proteins (1): NP_874364* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028215	Refilin	Family

Pfam: PF15068

UniProt features (4 total): modified residue 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5W9-F1	55.00	0.02

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 6, 26

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): epithelial to mesenchymal transition (GO:0001837), skeletal system morphogenesis (GO:0048705), negative regulation of chondrocyte development (GO:0061182), actin filament bundle organization (GO:0061572), negative regulation of bone mineralization involved in bone maturation (GO:1900158), actin cytoskeleton organization (GO:0030036), regulation of chondrocyte development (GO:0061181)

GO Molecular Function (1): filamin binding (GO:0031005)

GO Cellular Component (4): actin filament bundle (GO:0032432), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), actin cytoskeleton (GO:0015629)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chondrocyte development	2
cellular anatomical structure	2
mesenchymal cell differentiation	1
skeletal system development	1
animal organ morphogenesis	1
negative regulation of cell development	1
negative regulation of chondrocyte differentiation	1
regulation of chondrocyte development	1
actin filament organization	1
negative regulation of bone mineralization	1
bone mineralization involved in bone maturation	1
cytoskeleton organization	1
actin filament-based process	1
regulation of chondrocyte differentiation	1
regulation of cell development	1
cytoskeletal protein binding	1
actin filament	1
actin cytoskeleton	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cytoskeleton	1

Protein interactions and networks

STRING

220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RFLNB	CFTR	P13569	707
RFLNB	KRABD1	C9JBD0	418
RFLNB	TLCD3A	Q8TBR7	370
RFLNB	NUSAP1	Q9BXS6	348
RFLNB	VSIG4	Q9Y279	328
RFLNB	HMHB1	O97980	323
RFLNB	HTRA4	P83105	301
RFLNB	CTXN1	P60606	286
RFLNB	VPS53	Q5VIR6	284
RFLNB	BHLHA9	Q7RTU4	270
RFLNB	CPLX4	Q7Z7G2	268
RFLNB	CD177	Q8N6Q3	263
RFLNB	FLNA	P21333	256
RFLNB	UNC93A	Q86WB7	248
RFLNB	KANK3	Q6NY19	247

IntAct

22 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
TANC2	TAX1BP3	psi-mi:“MI:0914”(association)	0.690
CAPN6	UBA6	psi-mi:“MI:0914”(association)	0.530
SCARB2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
VMP1	TPM3	psi-mi:“MI:0914”(association)	0.350
CALD1		psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
NPPB	TCAF2	psi-mi:“MI:0914”(association)	0.350
FBLIM1	DCLK1	psi-mi:“MI:0914”(association)	0.350
LAD1	ZZEF1	psi-mi:“MI:0914”(association)	0.350
NUDT5	FLNB	psi-mi:“MI:0914”(association)	0.350
FBLIM1	ILVBL	psi-mi:“MI:0914”(association)	0.350
LAD1	FLNB	psi-mi:“MI:0914”(association)	0.350
EZR	PDLIM1	psi-mi:“MI:2364”(proximity)	0.270
STAT3	COPE	psi-mi:“MI:2364”(proximity)	0.270
RFLNB	ZBTB16	psi-mi:“MI:0915”(physical association)	0.000
RFLNB	KAT5	psi-mi:“MI:0915”(physical association)	0.000
TNFRSF10C	RFLNB	psi-mi:“MI:0915”(physical association)	0.000
PPP1R16A	RFLNB	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (25): FAM101B (Proximity Label-MS), FAM101B (Affinity Capture-MS), FAM101B (Affinity Capture-MS), FAM101B (Proximity Label-MS), FAM101B (Proximity Label-MS), FAM101B (Affinity Capture-MS), FAM101B (Affinity Capture-MS), KAT5 (Two-hybrid), FAM101B (Two-hybrid), ZBTB16 (Two-hybrid), FAM101B (Proximity Label-MS), FAM101B (Affinity Capture-MS), FAM101B (Affinity Capture-MS), FAM101B (Affinity Capture-MS), FAM101B (Affinity Capture-MS)

ESM2 similar proteins: A0A286YDK6, A0A286YF18, A5PKK9, A8WFF7, F5HGI9, O08664, O10331, O12165, P03407, P05856, P06499, P12479, P17473, P27114, P28925, P46695, P52511, P52512, P89457, Q00336, Q14493, Q17QW1, Q32LJ5, Q5STR5, Q66619, Q6NZY7, Q6S6U0, Q6VUC0, Q75009, Q7YR42, Q82855, Q84240, Q86YL5, Q89448, Q8BGN9, Q8BRE0, Q8C1R3, Q8N4L4, Q8N5W9, Q8QVL8

Diamond homologs: Q5SVD0, Q6AXS9, Q6ZTI6, Q7TS73, Q8N5W9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

280 predictions. Top by Δscore:

Variant	Effect	Δscore
17:445842:T:TA	donor_gain	1.0000
17:443492:TACC:T	acceptor_loss	0.9900
17:443495:CTGGG:C	acceptor_loss	0.9900
17:443496:T:G	acceptor_loss	0.9900
17:443501:G:T	acceptor_gain	0.9900
17:445831:TTTAC:T	donor_loss	0.9900
17:445832:TTA:T	donor_loss	0.9900
17:445833:TACCT:T	donor_loss	0.9900
17:445834:A:T	donor_loss	0.9900
17:445835:C:A	donor_loss	0.9900
17:445835:CCTTA:C	donor_gain	0.9900
17:445839:A:AC	donor_gain	0.9900
17:445839:ACTT:A	donor_gain	0.9900
17:445840:C:CC	donor_gain	0.9900
17:445840:CTTC:C	donor_gain	0.9900
17:443500:C:CT	acceptor_gain	0.9800
17:445843:C:A	donor_gain	0.9800
17:443495:C:CC	acceptor_gain	0.9600
17:445840:CTT:C	donor_gain	0.9600
17:443235:T:TA	donor_gain	0.9500
17:443490:TGTAC:T	acceptor_gain	0.9500
17:445834:A:AC	donor_gain	0.9500
17:445835:C:CC	donor_gain	0.9500
17:443491:GTAC:G	acceptor_gain	0.9400
17:443492:TAC:T	acceptor_gain	0.9300
17:443493:AC:A	acceptor_gain	0.9100
17:443494:CC:C	acceptor_gain	0.9100
17:443491:G:C	acceptor_gain	0.8300
17:441562:T:TC	acceptor_gain	0.7900
17:443717:CC:C	acceptor_gain	0.7800

AlphaMissense

926 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000025340 (17:489250 A>G), RS1000033616 (17:447953 G>A), RS1000284202 (17:443196 G>A), RS1000633980 (17:440211 T>C), RS1002363409 (17:447128 T>A,C), RS1002373245 (17:446841 C>A,T), RS1002491953 (17:491466 C>T), RS1002573776 (17:442451 G>A), RS1002607806 (17:491773 G>T), RS1003063436 (17:444387 C>G,T), RS1003113066 (17:440321 C>G,T), RS1003171900 (17:441661 G>A,T), RS1003369433 (17:446043 T>C), RS1003421059 (17:444752 C>G,T), RS1004837676 (17:489455 G>A)

Disease associations

OMIM: gene MIM:615928 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004067_188	Hip circumference adjusted for BMI	1.000000e-09
GCST004067_72	Hip circumference adjusted for BMI	5.000000e-09
GCST009391_1438	Metabolite levels	1.000000e-06
GCST009391_1451	Metabolite levels	4.000000e-06
GCST009391_1853	Metabolite levels	3.000000e-06
GCST012227_389	Hip circumference adjusted for BMI	4.000000e-08
GCST90020026_269	Hip index	2.000000e-08
GCST90020026_270	Hip index	2.000000e-17
GCST90020026_272	Hip index	4.000000e-10
GCST90020028_1510	Hip circumference adjusted for BMI	3.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0010409	triacylglycerol 50:2 measurement
EFO:0010405	triacylglycerol 48:2 measurement
EFO:0010410	triacylglycerol 50:3 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

46 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	7
mercuric bromide	affects cotreatment, decreases expression	2
Estradiol	affects cotreatment, increases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Cyclosporine	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
Am 580	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
eprenetapopt	affects expression, affects reaction	1
jinfukang	decreases expression, affects cotreatment	1
incobotulinumtoxinA	decreases expression	1
Rosiglitazone	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.