QuickView for FLNA;jsessionid=BE6AD10E377C147A77A850CBD071CAE2 (gene)

Gene Symbol:

FLNA Homo sapiens

Full name:

filamin A

Synonyms:

ABP-280, ABPX, CSBS, CVD1, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, filamin-A, actin binding protein 280, alpha-filamin, endothelial actin-binding protein, filamin A, alpha, filamin-1, non-muscle filamin

Genomic Location:

Chr X: 153230091-153252845

Description:

The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers...

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The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

SRF_01 ,  TAL1ALPHAE47_01 ,  SRF_Q6 ,  GGGYGTGNY_UNKNOWN ,  CAGGTG_E12_Q6 ,  GGGCGGR_SP1_Q6 ,  SRF_Q4 ,  NKX25_02 ,  MSX1_01 ,  WWTAAGGC_UNKNOWN ,  SRF_Q5_01 ,  YRCCAKNNGNCGC_UNKNOWN ,  CCAWWNAAGG_SRF_Q4 ,  SRF_C

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Cytogenetic Map:

Xq28

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