Seroatlas · Human Serome Atlas

FLNA

Filamin-A

Also known as: ABP-280, FLN, FLN1, FLNA_HUMAN, OPD1, OPD2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P21333
Gene: FLNA
Ensembl: ENSG00000196924
Chromosome: X
Canonical length: 2647 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Plasma membrane,Actin filaments,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

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.[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

2647 residues, UniProt reviewed canonical sequence.

>P21333|FLNA
     1  MSSSHSRAGQ SAAGAAPGGG VDTRDAEMPA TEKDLAEDAP WKKIQQNTFT RWCNEHLKCV
    61  SKRIANLQTD LSDGLRLIAL LEVLSQKKMH RKHNQRPTFR QMQLENVSVA LEFLDRESIK
   121  LVSIDSKAIV DGNLKLILGL IWTLILHYSI SMPMWDEEED EEAKKQTPKQ RLLGWIQNKL
   181  PQLPITNFSR DWQSGRALGA LVDSCAPGLC PDWDSWDASK PVTNAREAMQ QADDWLGIPQ
   241  VITPEEIVDP NVDEHSVMTY LSQFPKAKLK PGAPLRPKLN PKKARAYGPG IEPTGNMVKK
   301  RAEFTVETRS AGQGEVLVYV EDPAGHQEEA KVTANNDKNR TFSVWYVPEV TGTHKVTVLF
   361  AGQHIAKSPF EVYVDKSQGD ASKVTAQGPG LEPSGNIANK TTYFEIFTAG AGTGEVEVVI
   421  QDPMGQKGTV EPQLEARGDS TYRCSYQPTM EGVHTVHVTF AGVPIPRSPY TVTVGQACNP
   481  SACRAVGRGL QPKGVRVKET ADFKVYTKGA GSGELKVTVK GPKGEERVKQ KDLGDGVYGF
   541  EYYPMVPGTY IVTITWGGQN IGRSPFEVKV GTECGNQKVR AWGPGLEGGV VGKSADFVVE
   601  AIGDDVGTLG FSVEGPSQAK IECDDKGDGS CDVRYWPQEA GEYAVHVLCN SEDIRLSPFM
   661  ADIRDAPQDF HPDRVKARGP GLEKTGVAVN KPAEFTVDAK HGGKAPLRVQ VQDNEGCPVE
   721  ALVKDNGNGT YSCSYVPRKP VKHTAMVSWG GVSIPNSPFR VNVGAGSHPN KVKVYGPGVA
   781  KTGLKAHEPT YFTVDCAEAG QGDVSIGIKC APGVVGPAEA DIDFDIIRND NDTFTVKYTP
   841  RGAGSYTIMV LFADQATPTS PIRVKVEPSH DASKVKAEGP GLSRTGVELG KPTHFTVNAK
   901  AAGKGKLDVQ FSGLTKGDAV RDVDIIDHHD NTYTVKYTPV QQGPVGVNVT YGGDPIPKSP
   961  FSVAVSPSLD LSKIKVSGLG EKVDVGKDQE FTVKSKGAGG QGKVASKIVG PSGAAVPCKV
  1021  EPGLGADNSV VRFLPREEGP YEVEVTYDGV PVPGSPFPLE AVAPTKPSKV KAFGPGLQGG
  1081  SAGSPARFTI DTKGAGTGGL GLTVEGPCEA QLECLDNGDG TCSVSYVPTE PGDYNINILF
  1141  ADTHIPGSPF KAHVVPCFDA SKVKCSGPGL ERATAGEVGQ FQVDCSSAGS AELTIEICSE
  1201  AGLPAEVYIQ DHGDGTHTIT YIPLCPGAYT VTIKYGGQPV PNFPSKLQVE PAVDTSGVQC
  1261  YGPGIEGQGV FREATTEFSV DARALTQTGG PHVKARVANP SGNLTETYVQ DRGDGMYKVE
  1321  YTPYEEGLHS VDVTYDGSPV PSSPFQVPVT EGCDPSRVRV HGPGIQSGTT NKPNKFTVET
  1381  RGAGTGGLGL AVEGPSEAKM SCMDNKDGSC SVEYIPYEAG TYSLNVTYGG HQVPGSPFKV
  1441  PVHDVTDASK VKCSGPGLSP GMVRANLPQS FQVDTSKAGV APLQVKVQGP KGLVEPVDVV
  1501  DNADGTQTVN YVPSREGPYS ISVLYGDEEV PRSPFKVKVL PTHDASKVKA SGPGLNTTGV
  1561  PASLPVEFTI DAKDAGEGLL AVQITDPEGK PKKTHIQDNH DGTYTVAYVP DVTGRYTILI
  1621  KYGGDEIPFS PYRVRAVPTG DASKCTVTVS IGGHGLGAGI GPTIQIGEET VITVDTKAAG
  1681  KGKVTCTVCT PDGSEVDVDV VENEDGTFDI FYTAPQPGKY VICVRFGGEH VPNSPFQVTA
  1741  LAGDQPSVQP PLRSQQLAPQ YTYAQGGQQT WAPERPLVGV NGLDVTSLRP FDLVIPFTIK
  1801  KGEITGEVRM PSGKVAQPTI TDNKDGTVTV RYAPSEAGLH EMDIRYDNMH IPGSPLQFYV
  1861  DYVNCGHVTA YGPGLTHGVV NKPATFTVNT KDAGEGGLSL AIEGPSKAEI SCTDNQDGTC
  1921  SVSYLPVLPG DYSILVKYNE QHVPGSPFTA RVTGDDSMRM SHLKVGSAAD IPINISETDL
  1981  SLLTATVVPP SGREEPCLLK RLRNGHVGIS FVPKETGEHL VHVKKNGQHV ASSPIPVVIS
  2041  QSEIGDASRV RVSGQGLHEG HTFEPAEFII DTRDAGYGGL SLSIEGPSKV DINTEDLEDG
  2101  TCRVTYCPTE PGNYIINIKF ADQHVPGSPF SVKVTGEGRV KESITRRRRA PSVANVGSHC
  2161  DLSLKIPEIS IQDMTAQVTS PSGKTHEAEI VEGENHTYCI RFVPAEMGTH TVSVKYKGQH
  2221  VPGSPFQFTV GPLGEGGAHK VRAGGPGLER AEAGVPAEFS IWTREAGAGG LAIAVEGPSK
  2281  AEISFEDRKD GSCGVAYVVQ EPGDYEVSVK FNEEHIPDSP FVVPVASPSG DARRLTVSSL
  2341  QESGLKVNQP ASFAVSLNGA KGAIDAKVHS PSGALEECYV TEIDQDKYAV RFIPRENGVY
  2401  LIDVKFNGTH IPGSPFKIRV GEPGHGGDPG LVSAYGAGLE GGVTGNPAEF VVNTSNAGAG
  2461  ALSVTIDGPS KVKMDCQECP EGYRVTYTPM APGSYLISIK YGGPYHIGGS PFKAKVTGPR
  2521  LVSNHSLHET SSVFVDSLTK ATCAPQHGAP GPGPADASKV VAKGLGLSKA YVGQKSSFTV
  2581  DCSKAGNNML LVGVHGPRTP CEEILVKHVG SRLYSVSYLL KDKGEYTLVV KWGDEHIPGS
  2641  PYRVVVP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FLNA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 1,674 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 1,674 nTPM
colon: 1,114 nTPM
urinary bladder: 977 nTPM
endometrium: 937 nTPM
smooth muscle: 660 nTPM
seminal vesicle: 582 nTPM

Single-cell type

platelets: 2,361 nCPM
smooth muscle cells: 2,256 nCPM
vascular smooth muscle cells: 1,439 nCPM
alveolar cells type 1: 701 nCPM
breast myoepithelial cells: 611 nCPM
peritubular myoid cells: 523 nCPM

Immune cell

total PBMC: 56 nTPM
non-classical monocyte: 35 nTPM
gdT-cell: 33 nTPM
memory CD8 T-cell: 29 nTPM
classical monocyte: 25 nTPM
intermediate monocyte: 23 nTPM

Brain region

choroid plexus: 124 nTPM
cerebral cortex: 103 nTPM
medulla oblongata: 94 nTPM
thalamus: 84 nTPM
hypothalamus: 58 nTPM
spinal cord: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FLNA.

Disease | AllUniProt

Conditions FLNA is implicated in, by any mechanism.

Periventricular nodular heterotopia 1 (PVNH1) MIM:300049
Otopalatodigital syndrome 1 (OPD1) MIM:311300
Otopalatodigital syndrome 2 (OPD2) MIM:304120
Frontometaphyseal dysplasia 1 (FMD1) MIM:305620
Melnick-Needles syndrome (MNS) MIM:309350
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (CIIPX) MIM:300048
FG syndrome 2 (FGS2) MIM:300321
Terminal osseous dysplasia (TOD) MIM:300244
Cardiac valvular dysplasia, X-linked (CVDPX) MIM:314400
Congenital short bowel syndrome, X-linked (CSBSX) MIM:300048

Disease | GeneticClinVar

337 pathogenic / likely-pathogenic of 4,418 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia
FLNA-related disorder

Disease | ImmuneIEDB

Conditions an epitope on FLNA was assayed in.

type 1 diabetes mellitus T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.08
gnomAD pLI: 1
gnomAD missense Z: 3.78
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FLNA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FLNA as an antibody target. Whether an autoantibody or antibody against FLNA could matter depends on whether native FLNA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FLNA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FLNA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...