FLNB filamin B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLNBprovided by HGNC
Official Full Name: filamin Bprovided by HGNC
Primary source: HGNC:HGNC:3755
See related: Ensembl:ENSG00000136068 MIM:603381; AllianceGenome:HGNC:3755
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AOI; FH1; SCT; TAP; LRS1; TABP; FLN-B; FLN1L; ABP-278; ABP-280
Summary: This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
Expression: Ubiquitous expression in colon (RPKM 41.4), prostate (RPKM 35.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.3

Exon count:: 47

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (58008422..58172251)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (58048835..58212708)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (57994149..58157978)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Filamin B restricts vaccinia virus spread and is targeted by vaccinia virus protein C4.
Title: Filamin B restricts vaccinia virus spread and is targeted by vaccinia virus protein C4.
Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population.
Title: Effect of disulfidptosis-related genes SLC3A2, SLC7A11 and FLNB polymorphisms on risk of autoimmune thyroiditis in a Chinese population.
Actin-binding protein filamin B regulates the cell-surface retention of endothelial sphingosine 1-phosphate receptor 1.
Title: Actin-binding protein filamin B regulates the cell-surface retention of endothelial sphingosine 1-phosphate receptor 1.
Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
Title: Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
Title: Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA.
Title: The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA.
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Title: Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.
Title: Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.
circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response.
Title: circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response.
Studied expression levels of Filamin b (FLN-b) in the placenta of patients with pre-eclampsia (PE). Found down-regulation of FLN-b inhibits the ERK/matrix metallopeptidase 9 (MMP-9) pathways, leading to trophoblastic invasion disorders in the PE placenta.
Title: Decreased Filamin b expression regulates trophoblastic cells invasion through ERK/MMP-9 pathway in pre-eclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Atelosteogenesis type I MedGen: C0265283 OMIM: 108720 GeneReviews: FLNB Disorders	Compare labs
Atelosteogenesis type III MedGen: C3668942 OMIM: 108721 GeneReviews: FLNB Disorders	Compare labs
Boomerang dysplasia MedGen: C0432201 OMIM: 112310 GeneReviews: FLNB Disorders	Compare labs
Larsen syndrome MedGen: C0175778 OMIM: 150250 GeneReviews: FLNB Disorders	Compare labs
Spondylocarpotarsal synostosis syndrome MedGen: C1848934 OMIM: 272460 GeneReviews: FLNB Disorders	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-07-25) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-07-25) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4	PubMed
Nef	nef	Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein filamin B	PubMed
Pr55(Gag)	gag	Cellular biotinylated filamin B, beta (FLNB) protein is incorporated into HIV-1 Gag virus-like particles	PubMed
Tat	tat	filamin B subunit beta (FLNB) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
Vpr	vpr	HIV-1 Vpr upregulates FLNB in HeLa cells within 12 hours of exposure	PubMed
retropepsin	gag-pol	A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S1581 (e-PCR)
- UniSTS:37640

D3S1600 (e-PCR)
- UniSTS:18193

D3S3923 (e-PCR)
- UniSTS:14149

G09702 (e-PCR)
- UniSTS:71503

RH78421 (e-PCR)
- UniSTS:84559

SHGC-153438 (e-PCR)
- UniSTS:177748

STS-M62994 (e-PCR)
- UniSTS:1109

SHGC-77042 (e-PCR)
- UniSTS:62825

RH16494 (e-PCR)
- UniSTS:69501

STS-H01996 (e-PCR)
- UniSTS:33969

SHGC-34580 (e-PCR)
- UniSTS:2768

RH45533 (e-PCR)
- UniSTS:81360

D3S4069 (e-PCR)
- UniSTS:30681

FLNB_8352 (e-PCR)
- UniSTS:467693

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables actin binding	NAS Non-traceable Author Statement more info	PubMed
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte development	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	HDA more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: filamin-B

Names: ABP-280 homolog; Larsen syndrome 1 (autosomal dominant); actin binding protein 278; actin-binding-like protein; beta-filamin; filamin B, beta; filamin homolog 1; filamin-3; thyroid autoantigen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012801.1 RefSeqGene

Range

5023..168852

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164317.2 → NP_001157789.1 filamin-B isoform 1

See identical proteins and their annotated locations for NP_001157789.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AB371580, AC137936

Consensus CDS

CCDS54599.1

UniProtKB/TrEMBL

A0A804HK76

Related

ENSP00000420213.1, ENST00000490882.5

Conserved Domains (4) summary

smart00557
Location:1328 → 1417

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:17 → 121

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1037 → 1124

Filamin; Filamin/ABP280 repeat

cl23780
Location:1749 → 1804

PepSY_TM; PepSY-associated TM region
NM_001164318.2 → NP_001157790.1 filamin-B isoform 3

See identical proteins and their annotated locations for NP_001157790.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.

Source sequence(s)

AB191258, AC137936

Consensus CDS

CCDS54600.1

UniProtKB/TrEMBL

A0A804HK76

Related

ENSP00000415599.2, ENST00000429972.6

Conserved Domains (3) summary

smart00557
Location:1421 → 1514

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:17 → 121

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1037 → 1124

Filamin; Filamin/ABP280 repeat
NM_001164319.2 → NP_001157791.1 filamin-B isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 3' coding regions compared to variant 1. The resulting protein (isoform 4) is shorter compared to isoform 1.

Source sequence(s)

AB371581, AC137936, AL699183

Consensus CDS

CCDS54601.1

UniProtKB/TrEMBL

A0A804HK76

Related

ENSP00000351339.3, ENST00000358537.7

Conserved Domains (3) summary

smart00557
Location:1421 → 1514

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:17 → 121

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1037 → 1124

Filamin; Filamin/ABP280 repeat
NM_001457.4 → NP_001448.2 filamin-B isoform 2

See identical proteins and their annotated locations for NP_001448.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AB209889, AB371582, AC137936, AF043045

Consensus CDS

CCDS2885.1

UniProtKB/Swiss-Prot

B2ZZ83, B2ZZ84, B2ZZ85, C9JKE6, C9JMC4, O75369, Q13706, Q59EC2, Q60FE7, Q6MZJ1, Q8WXS9, Q8WXT0, Q8WXT1, Q8WXT2, Q8WXT3, Q9NRB5, Q9NT26, Q9UEV9

UniProtKB/TrEMBL

A0A804HK76

Related

ENSP00000295956.5, ENST00000295956.9

Conserved Domains (4) summary

smart00557
Location:1421 → 1514

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:17 → 121

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1037 → 1124

Filamin; Filamin/ABP280 repeat

cl23780
Location:1718 → 1773

PepSY_TM; PepSY-associated TM region