ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	FLNC
Previous Symbol	FLN2
Symbol Alias	ABP-280, ABPL
Approved Name	filamin C, gamma
Previous Name	filamin C, gamma (actin binding protein 280)
Name Alias	actin binding protein 280
Location	7q32-q35
Position	chr7:128470431-128499328, +
External Links	HGNC: 3756 Entrez Gene: 2318 Ensembl: ENSG00000128591 UCSC: uc003vnz.3
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Neale BM, 2010 (b)	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs13227216	Chr7:128490553(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs3734973	Chr7:128484816(Fwd)	downstream_gene_variant; synonymous_variant	1(0/0/1)
rs2291560	Chr7:128477472(Fwd)	synonymous_variant; upstream_gene_variant	1(0/1/0)
rs2291567	Chr7:128483227(Fwd)	downstream_gene_variant; intron_variant	1(0/0/1)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs1472146	Chr7:128503942(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1472147	Chr7:128503543(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1994765	Chr7:128472981(Fwd)	intron_variant
rs3734972	Chr7:128470838(Fwd)	synonymous_variant
rs2291561	Chr7:128477547(Fwd)	synonymous_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 14)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005856	cytoskeleton	Cellular Component		54
GO:0005886	plasma membrane	Cellular Component		772
GO:0005737	cytoplasm	Cellular Component		690
GO:0005829	cytosol	Cellular Component		447
GO:0030018	Z disc	Cellular Component		17
GO:0030506	ankyrin binding	Molecular Function		3
GO:0008092	cytoskeletal protein binding	Molecular Function	IPI[17987659]	11
GO:0016528	sarcoplasm	Cellular Component		1
GO:0003779	actin binding	Molecular Function		46
GO:0005515	protein binding	Molecular Function	IPI[17474147]	910
GO:0042383	sarcolemma	Cellular Component		11
GO:0034329	cell junction assembly	Biological Process		13
GO:0048747	muscle fiber development	Biological Process		1
GO:0043034	costamere	Cellular Component		4

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04510	Focal adhesion	40	Cell-matrix adhesions play essential roles in important biol...... Cell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the cell-extracellular matrix contact points, specialized structures are formed and termed focal adhesions, where bundles of actin filaments are anchored to transmembrane receptors of the integrin family through a multi-molecular complex of junctional plaque proteins. Some of the constituents of focal adhesions participate in the structural link between membrane receptors and the actin cytoskeleton, while others are signalling molecules, including different protein kinases and phosphatases, their substrates, and various adapter proteins. Integrin signaling is dependent upon the non-receptor tyrosine kinase activities of the FAK and src proteins as well as the adaptor protein functions of FAK, src and Shc to initiate downstream signaling events. These signalling events culminate in reorganization of the actin cytoskeleton; a prerequisite for changes in cell shape and motility, and gene expression. Similar morphological alterations and modulation of gene expression are initiated by the binding of growth factors to their respective receptors, emphasizing the considerable crosstalk between adhesion- and growth factor-mediated signalling. More...
hsa04010	MAPK signaling pathway	69	The mitogen-activated protein kinase (MAPK) cascade is a hig...... The mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals express at least four distinctly regulated groups of MAPKs, extracellular signal-related kinases (ERK)-1/2, Jun amino-terminal kinases (JNK1/2/3), p38 proteins (p38alpha/beta/gamma/delta) and ERK5, that are activated by specific MAPKKs: MEK1/2 for ERK1/2, MKK3/6 for the p38, MKK4/7 (JNKK1/2) for the JNKs, and MEK5 for ERK5. Each MAPKK, however, can be activated by more than one MAPKKK, increasing the complexity and diversity of MAPK signalling. Presumably each MAPKKK confers responsiveness to distinct stimuli. For example, activation of ERK1/2 by growth factors depends on the MAPKKK c-Raf, but other MAPKKKs may activate ERK1/2 in response to pro-inflammatory stimuli. More...

Genes shared at least 5 GO terms with FLNC (count: 11)

Gene Symbol	Pathway Count	Pathway List
ILK	6	plasma membrane; cytoplasm; cytosol; protein binding; cell junction assembly; costamere;
FHOD3	5	cytoskeleton; cytoplasm; Z disc; actin binding; protein binding;
NF2	5	cytoskeleton; plasma membrane; cytoplasm; cytoskeletal protein binding; protein binding;
NOS1	5	cytoskeleton; cytoplasm; cytosol; protein binding; sarcolemma;
RDX	5	cytoskeleton; plasma membrane; cytoplasm; actin binding; protein binding;
ANK3	5	plasma membrane; cytoskeletal protein binding; protein binding; sarcolemma; costamere;
CRYAB	5	plasma membrane; cytoplasm; cytosol; Z disc; protein binding;
CTNND1	5	plasma membrane; cytoplasm; cytosol; protein binding; cell junction assembly;
INPPL1	5	plasma membrane; cytoplasm; cytosol; actin binding; protein binding;
PAK1	5	plasma membrane; cytoplasm; cytosol; Z disc; protein binding;
DES	5	cytosol; Z disc; cytoskeletal protein binding; protein binding; sarcolemma;

Genes shared at least 2 KEGG pathways with FLNC (count: 6)

Gene Symbol	Pathway Count	Pathway List
CRKL	2	Focal adhesion; MAPK signaling pathway;
MAPK1	2	Focal adhesion; MAPK signaling pathway;
MAPK3	2	Focal adhesion; MAPK signaling pathway;
MAPK9	2	Focal adhesion; MAPK signaling pathway;
PAK1	2	Focal adhesion; MAPK signaling pathway;
PRKCB	2	Focal adhesion; MAPK signaling pathway;

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Region: chr7:128470431..128499328 View in gBrowse