Gene

flna

ID
ZDB-GENE-030131-2145
Name
filamin A, alpha (actin binding protein 280)
Symbol
flna Nomenclature History
Previous Names
  • fb98b06
  • fd09g03
  • wu:fb98b06
  • wu:fd09g03
  • wu:fd49a06
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to enable actin binding activity. Human ortholog(s) of this gene implicated in X-linked recessive disease (multiple); bone development disease (multiple); heart valve disease (multiple); periventricular nodular heterotopia; and terminal osseous dysplasia. Orthologous to human FLNA (filamin A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With flna Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
FG syndrome Alliance ?FG syndrome 2 300321
frontometaphyseal dysplasia 1 Alliance Frontometaphyseal dysplasia 1 305620
Melnick-Needles syndrome Alliance Melnick-Needles syndrome 309350
otopalatodigital syndrome type 1 Alliance Otopalatodigital syndrome, type I 311300
otopalatodigital syndrome type 2 Alliance Otopalatodigital syndrome, type II 304120
periventricular nodular heterotopia Alliance Heterotopia, periventricular, 1 300049
terminal osseous dysplasia Alliance Terminal osseous dysplasia 300244
X-linked cardiac valvular dysplasia Alliance Cardiac valvular dysplasia, X-linked 314400
X-linked chronic idiopathic intestinal pseudo-obstruction Alliance Congenital short bowel syndrome 300048
X-linked chronic idiopathic intestinal pseudo-obstruction Alliance Intestinal pseudoobstruction, neuronal 300048
Associated With flna Via Experimental Models
No data available
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
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 Immunoglobulin E-set Immunoglobulin-like fold
UniProtKB:E9QI62 2553
UniProtKB:F1R1U1 353
Transcripts
Genome Browsers
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