Gene

flncb

ID

ZDB-GENE-041008-175

Name

filamin C, gamma b (actin binding protein 280)

Symbol

flncb Nomenclature History

Previous Names

im:7139256
sot
wu:fc02d03

Type

protein_coding_gene

Location

Chr: 4 Mapping Details/Browsers

Description

Predicted to have actin binding activity. Involved in several processes, including cilium assembly; muscle cell cellular homeostasis; and sarcomere organization. Used to study autosomal dominant polycystic kidney disease and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in distal muscular dystrophy 4; hypertrophic cardiomyopathy 26; and myofibrillar myopathy 5. Is expressed in several structures, including adaxial cell; optic vesicle; primitive heart tube; retina; and skeletal muscle cell. Orthologous to human FLNC (filamin C).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7139256 (4 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 14 figures from 6 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With flncb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
distal myopathy 4	Alliance	Myopathy, distal, 4	614065
hypertrophic cardiomyopathy 26	Alliance	Arrhythmogenic right ventricular dysplasia, familial	617047
hypertrophic cardiomyopathy 26	Alliance	Cardiomyopathy, familial hypertrophic, 26	617047
hypertrophic cardiomyopathy 26	Alliance	Cardiomyopathy, familial restrictive 5	617047
myofibrillar myopathy 5	Alliance	Myopathy, myofibrillar, 5	609524

Associated With flncb Via Experimental Models

Human Disease	Fish	Conditions	Citations
autosomal dominant polycystic kidney disease	WT + MO1-flncb	standard conditions	Adams et al., 2012
dilated cardiomyopathy	WT + MO2-flncb + MO4-tp53	standard conditions	Begay et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR001589	Actinin-type actin-binding domain, conserved site
Domain	IPR001715	Calponin homology domain
Family	IPR044801	Filamin family
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR014756	Immunoglobulin E-set
Homologous_superfamily	IPR036872	CH domain superfamily
Repeat	IPR001298	Filamin/ABP280 repeat
Repeat	IPR017868	Filamin/ABP280 repeat-like

Domain Details Per Protein

Protein	Length	Actinin-type actin-binding domain, conserved site	Calponin homology domain	CH domain superfamily	Filamin/ABP280 repeat	Filamin/ABP280 repeat-like	Filamin family	Immunoglobulin E-set	Immunoglobulin-like fold
UniProtKB:A0A8M9PV14 InterPro	2691
UniProtKB:A0A8M9PHR9 InterPro	2773
UniProtKB:A0A8M9Q104 InterPro	2742
UniProtKB:A0A8M9PHS4 InterPro	2701
UniProtKB:A0A8M9Q107 InterPro	2660
UniProtKB:A0A8M9PV09 InterPro	2772
UniProtKB:A0A8M9Q696 InterPro	2731
UniProtKB:A0A8M9QBS4 InterPro	2732
UniProtKB:A0A8M9Q6A0 InterPro	2649
UniProtKB:A0A8M9QBT0 InterPro	2619

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	flncb-201 (1) Ensembl	Ensembl		8,322 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations