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GSN Gene

protein-coding GIFtS: 63

GC09P123070

gelsolin (amyloidosis, Finnish type)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ADF ^³
AGEL ^³
Brevin ^³
DKFZp313L0718 ^¹, ²
OTTHUMP00000022011 ^²
OTTHUMP00000162202 ^²
gelsolin ^²

Descriptions
Actin-depolymerizing factor ^³
gelsolin (amyloidosis, Finnish type) ^²

External Ids
HGNC: 4620¹
Entrez Gene: 2934²
UniProtKB: P06396³
Ensembl: ENSG00000148180⁷

Search outside databases for aliases for GSN gene

Previous GC identifers: GC09P115166 GC09P115708 GC09P117515 GC09P119438 GC09P119406 GC09P121109

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for GSN:

The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments

to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and

disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish

type (FAF). Multiple transcript variants encoding several different isoforms have been found for

this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: GELS_HUMAN, P06396

Function: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of

actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote

the assembly of monomers into filaments (nucleation) as well as sever filaments already formed

Gene Wiki entry for GSN (Gelsolin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GSN gene

Entrez Gene cytogenetic band: 9q33 Ensembl cytogenetic band: 9q33.2 HGNC cytogenetic band: 9q33

GSN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P123070: (about GC identifiers)

Start:	123,009,896 bp from pter
End:	123,134,942 bp from pter
Size:	125,047 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000009.10 NT_008470.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GELS_HUMAN, P06396 (See protein sequence)

Recommended Name: Gelsolin precursor

Size: 782 amino acids; 85698 Da

Subunit: Binds to actin and to fibronectin

Subcellular location: Isoform 2: Cytoplasm, cytoskeleton

Subcellular location: Isoform 1: Secreted

PDB structures from and Proteopedia :

1C0F (3D)

1C0G (3D)

1D4X (3D)

1DEJ (3D)

1EQY (3D)

1ESV (3D)

1H1V (3D)

1KCQ (3D)

1MDU (3D)

1NLV (3D)

1NM1 (3D)

1NMD (3D)

1P8X (3D)

1P8Z (3D)

1SOL (3D)

1T44 (3D)

1YAG (3D)

1YVN (3D)

2FF3 (3D)

2FF6 (3D)

2FH1 (3D)

2FH2 (3D)

2FH3 (3D)

2FH4 (3D)

3CI5 (3D)

3CIP (3D)

3CJB (3D)

3CJC (3D)

Secondary accessions: Q8WVV7

Alternative initiation: 2 isoforms: P06396-1 P06396-2

Post-translational modifications:

Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of

phospholipids¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (8 alternative transcripts):

NP_000168.1 NP_001121134.1 NP_001121135.1 NP_001121136.1 NP_001121137.1 NP_001121138.1 NP_001121139.1 NP_937895.1

ENSEMBL proteins:

ENSP00000377881 ENSP00000377882 ENSP00000362911 ENSP00000362912 ENSP00000362913 ENSP00000362924

ENSP00000362929 ENSP00000362914 ENSP00000340888

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for GSN
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Gelsolin, Gelsolin plasma)
	Human Recombinant Proteins from Abnova (GSN)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	IDA	3020431
GO:0015629	actin cytoskeleton	TAS	1321812

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Antibodies for GSN:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibody Arrays and Antibodies for GSN
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Gelsolin, Gelsolin plasma), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (GSN)
	Novus Biologicals Antibodies for GSN

Assays for GSN:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P06396

ProtoNet protein and cluster: P06396

2 Blocks protein families:

IPB007122 Gelsolin family signature

IPB007123 Gelsolin region

UniProtKB/Swiss-Prot: GELS_HUMAN, P06396

Similarity: Belongs to the villin/gelsolin family

Similarity: Contains 6 gelsolin-like repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GSN)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GSN)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_198252

Applied Biosystems Silencer® siRNAs for GSN

Sigma-Aldrich siRNA and siRNA Panels for GSN

Sigma-Aldrich shRNA Panels and shRNA for GSN

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for GSN
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000177
Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000177
untagged cDNA clones in CMV expression vector (see all 10): AL832070

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000177

UniProtKB/Swiss-Prot: GELS_HUMAN, P06396

Function: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of

actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote

the assembly of monomers into filaments (nucleation) as well as sever filaments already formed

Genatlas biochemistry entry for GSN:

gelsolin,actin filaments severing and capping protein,expressed in

macrophages,platelets,plasma,with homology to villin,Ca2+ and polyphosphoinositide 4,5-biphosphate

(PIP2)-regulated,implicated in actin remodeling in growing and in apoptotic cells,cleaved by CASP3

to form a potential effector of morphologic change during apoptosis

12 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gsn):

	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism	immune system
lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	nervous system	reproductive system
respiratory system	skeleton

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005509	calcium ion binding	TAS	1321812
GO:0005515	protein binding	IPI	12732734 17353931 17373842 17620599

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Sigma-Aldrich "Your Favorite Gene" Pathways for GSN (Your Favorite Gene powered by Ingenuity)

Regulation of Actin-based Motility by Rho
Germ Cell-Sertoli Cell Junction Signaling
Actin Cytoskeleton Signaling

GeneDecks GSN for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for GSN

5/55 Interacting proteins for GSN (ENSP00000362924³ P06396^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 55 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTA1	P68133²	STRING (score=.999) MINT-24898
VDAC1	P21796²	STRING (score=.884) MINT-4792996
act-1 act-1 (xeno)	P10983¹^,²	EBI-351506, EBI-312653 MINT-25040
ARRB1	P49407¹	EBI-351506, EBI-743313
ARRB2	P32121¹	EBI-351506, EBI-714559

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030041	actin filament polymerization	IDA	3020431
GO:0051014	actin filament severing	IDA	3020431
GO:0051016	barbed-end actin filament capping	TAS	1321812

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for GSN
10/53 Novoseek chemical compound relationships for GSN gene (see all 53 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
kabiramide c	85.96	3	16287234 (1), 14612571 (1)
pip2	80.08	45	9265648 (4), 9252353 (3), 1313007 (3), 1318302 (3) (see all 24)
phalloidin	68.19	14	8987989 (3), 7806519 (2), 12475760 (2), 1661732 (2) (see all 8)
deoxypodophyllotoxin	53.61	2	11455440 (1)
phosphoinositide	52.18	13	11090061 (3), 11170411 (3), 8641669 (1), 10429191 (1) (see all 8)
apicidin	50.19	10	17257588 (5), 11085529 (3)
calcium	45.17	182	9398317 (7), 8386174 (6), 10336615 (5), 9826630 (5) (see all 63)
phosphatidylinositol	34.36	31	10429191 (4), 8987988 (4), 9874255 (1), 15591047 (1) (see all 6)
asparagine	33.91	4	1849145 (1), 1311149 (1), 1652889 (1)
tetramethylrhodamine	33.13	1	8987989 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GSN)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GSN)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_198252

Sigma-Aldrich siRNA and siRNA Panels for GSN

Sigma-Aldrich shRNA Panels and shRNA for GSN

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000177 NM_001127662 NM_001127663 NM_001127664 NM_001127665 NM_001127666 NM_001127667 NM_198252

REFSEQ mRNAs for GSN gene (8 alternative transcripts):

NM_000177.4 NM_001127662.1 NM_001127663.1 NM_001127664.1 NM_001127665.1 NM_001127666.1 NM_001127667.1 NM_198252.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000177 NM_001127662 NM_001127663 NM_001127664 NM_001127665 NM_001127666 NM_001127667 NM_198252

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 8): NM_000177
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 8): NM_000177
                                 untagged cDNA clones in CMV expression vector (see all 10): AL832070

Additional cDNA sequence:

AF220263.1 AK096280.1 AK125819.1 AK295201.1 AK295572.1 AK297870.1 AK299453.1 AK300631.1

AK304629.1 AK304675.1 AK307859.1 AK315494.1 AL832614.1 BC017491.1 BC026033.1 BX647999.1

CR596569.1 CR618098.1 X04412.1

24/72 DOTS entries (see all 72 ):

DT.100881707 DT.91894886 DT.453410 DT.100881695 DT.91771655 DT.95354439 DT.97860794 DT.100881704

DT.95309109 DT.100881699 DT.121211956 DT.121211910 DT.100881698 DT.121211858 DT.100039145 DT.121211779

DT.100881713 DT.95206638 DT.87017285 DT.91862299 DT.97797745 DT.91751539 DT.100881709 DT.121211776

24/954 AceView cDNA sequences (see all 954 ):

BU501272 BF724153 BF526477 H40800 AL602832 BQ879571 BI037165 CB152164

BM893675 AJ574512 AW139065 BG679902 CD106564 BQ638939 NM_000177 BP341223

BQ678899 AA887420 BM708720 BQ685383 CA308175 AL040558 BQ689701 AU121880

highest scoring ESTs for GSN:

X04412 AA296007 AA304160 AA320832 AA348408 AA384501 AA384912 AA486157 AA552335 AA583297

Unigene Cluster for GSN:

Gelsolin (amyloidosis, Finnish type)

Hs.522373 [show with all ESTs]

Unigene Representative Sequence: AF220263

GeneLoc Exon Structure

5/44 Alternative Splicing Database (ASD) splice patterns (SP) for GSN (see all 44 )

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13a	·	13b	·	13c	^	14a	·	14b	·	14c	^	15a	·	15b	·
SP1:					-		-		-		-						-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP2:									-		-						-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP3:																																											-		-		-		-
SP4:
SP5:																	-		-		-						-		-		-		-				-		-		-								-

ExUns:	15c	·	15d	·	15e	^	16	^	17a	·	17b	·	17c	·	17d	·	17e	·	17f	·	17g	^	18a	·	18b	·	18c	·	18d	·	18e	^	19a	·	19b	^	20a	·	20b	·	20c	·	20d	^	21a	·	21b	·	21c	·	21d	^
SP1:																							-														-								-
SP2:																							-														-								-
SP3:																							-														-								-
SP4:																																													-
SP5:

ExUns:	22	^	23	^	24a	·	24b	·	24c	^	25	^	26	^	27a	·	27b	·	27c	^	28	^	29a	·	29b	^	30a	·	30b	^	31	^	32a	·	32b	^	33a	·	33b	·	33c
SP1:															-						-				-		-								-
SP2:															-						-				-		-								-
SP3:															-						-				-		-								-
SP4:															-						-				-		-
SP5:

About this scheme

ECgene alternative splicing isoforms for GSN

9 Ensembl transcripts including schematic representations:

ENST00000394352 ENST00000394353 ENST00000373805 ENST00000373806 ENST00000373807 ENST00000373818

ENST00000373823 ENST00000373808 ENST00000341272

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

GSN expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GSN

¹ / ² / ³

6 probe-sets matching GSN gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
80383_s_at²^{, 3}	U95-E	1	1.00	1.00	0.99	1.16	AI620412	0.80	1.00	0.91	1
32612_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.84	X04412	1.00	1.00	1.00	1
214040_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE675337	0.60	1.00	0.82	1
200696_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000177	0.60	1.00	0.82	1
214040_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
200696_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks GSN for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.522373
Expression variation in blood from EXPOLDB for GSN
UniProtKB/Swiss-Prot: GELS_HUMAN, P06396
Tissue specificity: Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal
muscle cells

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GSN gene from 5/16 species (see all 16 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GSN¹	--	gelsolin (amyloidosis, Finnish type)	86.55(n) 89.95(a)	474819 XM_862756.1 XP_867849.1
chimpanzee (Pan troglodytes)	GSN¹	--	gelsolin (amyloidosis, Finnish type)	99.57(n) 99.74(a)	464706 XM_001161890.1 XP_001161890.1
cow (Bos taurus)	GSN¹	--	gelsolin (amyloidosis, Finnish type)	91.52(n) 96.72(a)	535077 NM_001034627.1 NP_001029799.1
rat (Rattus norvegicus)	Gsn¹	--	gelsolin	89.19(n) 93.23(a)	296654 NM_001004080.1 NP_001004080.1
mouse (Mus musculus)	Gsn^{1, 5}	2 (24.50 cM)⁵	gelsolin^{1, 5}	88.83(n)¹ 93.2(a)¹	227753¹ NM_146120.3¹ NP_666232.2¹ AK076156⁵ AK089934⁵ (see all 43)

About this table Species with no ortholog for GSN

ENSEMBL Gene Tree for GSN

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for GSN gene

SCIN² CAPG²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/290 NCBI SNPs in GSN are shown (see all 290 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 163)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs398720^1,2	A,C,F,H,O	123135092(-)	`AGGATG/TCACGC`	2	--	ng3¹		8		EU EA WA NA	634
	rs4837835^1,2	A,C,F,H	123100810(+)	`CCTGTC/GACTGC`	2	--	int¹ ng5¹		8		EU EA WA	838
	rs9696578^1,2	A,C,F,H	123131077(+)	`TCCTCG/TCCTCT`	8	R/L	mis¹ ese³		8		EU EA WA	804
	rs7870797^1,2	A,C,F,H	123100243(+)	`GTGTGG/ACACAC`	2	--	int¹ ng5¹		6		EU EA WA NA	580
	rs10818524^1,2	A,C,F,H	123070000(+)	`AGGCCT/CCTTCA`	1	--	ng5¹		6		EA MN EU WA	818
	rs3827677^1,2	A,C,F,H	123100700(-)	`TTGAGG/AATTAA`	2	--	int¹ ng5¹		4		EU EA WA	418
	rs3761856^1,2	A,C,F,H	123100125(-)	`GCTCTA/GGCCTA`	2	--	int¹ ng5¹		9		EA EU WA NA	2060
	rs2230287^1,2	C,F,H	123105045(+)	`CGGCCG/ACCATC`	8	T/A	mis¹ ese³		10		MN EA EU WA	2158
	rs3761855^1,2	F,H	123101085(-)	`TTTGTT/CTGGTT`	2	--	ng5¹ int¹		4		EU EA WA	418
--	rs10760172^1,2	A,C	123101723(+)	`GCGCCC/TGCCGT`	2	--	int¹ ng5¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for GSN (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 137350 disorders: 105120

UniProtKB/Swiss-Prot: GELS_HUMAN, P06396

Defects in GSN are the cause of amyloidosis type 5 (AMYL5) [MIM:105120]; also known as

familial amyloidosis Finnish type. AMYL5 is a hereditary generalized amyloidosis due to gelsolin

amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal

dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease

can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and

nephrotic syndrome leading to renal failure

10/65 Novoseek disease relationships for GSN gene (see all 65 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
finnish type amyloidosis	94.86	15	2162627 (2), 7672107 (1), 11226199 (1), 8243656 (1) (see all 12)
amyloidosis familial	94.43	35	7683843 (2), 8395367 (2), 2162627 (2), 1315488 (1) (see all 30)
lattice corneal dystrophy	88.44	9	10767822 (1), 8110676 (1), 7683843 (1), 9787234 (1) (see all 5)
amyloidosis hereditary	80.29	7	1849145 (3), 2176164 (2), 11849445 (1), 7868080 (1)
type iv familial amyloid polyneuropathy	75.62	1	2176550 (1)
amyloidosis	73.58	49	17453628 (3), 10744159 (2), 10389096 (2), 16475811 (2) (see all 26)
neuropathies cranial	68.46	1	10767822 (1)
amyloid neuropathies	68.44	3	8599717 (1), 8388189 (1), 12766975 (1)
familial amyloid polyneuropathies	65.56	5	1848334 (2), 16870032 (1), 8293178 (1), 14639586 (1)
amyloidosis systemic	60.70	1	11401442 (1)

About this table

Human Gene Mutation Database: GSN

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/451 PubMed articles for GSN gene (see all 451 ):

Identification of Tyr438 as the major in vitro c-Src phosphorylation site in human gelsolin: a mass spectrometric approach. (PubMed id 10210201)^{1, 3, 4} De Corte V....Vandekerckhove J. (1999)
Functional consequences of disulfide bond formation in gelsolin. (PubMed id 9003812)^{1, 3, 4} Allen P.G. (1997)
Spectroscopic studies of a phosphoinositide-binding peptide from gelsolin: behavior in solutions of mixed solvent and anionic micelles. (PubMed id 8599675)^{1, 3, 4} Xian W.... Braunlin W.H. (1995)
Structure of gelsolin segment 1-actin complex and the mechanism of filament severing. (PubMed id 8395021)^{1, 3, 4} McLaughlin P.J.... Weeds A.G. (1993)
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. (PubMed id 1338910)^{1, 3, 4} de la Chapelle A.... Kere J. (1992)
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. (PubMed id 1652889)^{1, 2, 3} Hiltunen T....Peltonen L. (1991)
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. (PubMed id 2176481)^{1, 3, 4} Ghiso J.... Frangione B. (1990)
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. (PubMed id 2157434)^{1, 3, 4} Haltia M....Frangione B. (1990)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{3, 4} Gevaert K.... Vandekerckhove J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2934	HGNC: 4620	AceView: GSN	Ensembl:ENSG00000148180	euGenes: HUgn2934
ECgene: GSN	H-InvDB: GSN

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for GSN	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=GSN
Wikipedia	http://en.wikipedia.org/wiki/Gelsolin

Licensable Technologies for GSN
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for GSN:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for GSN-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for GSN		Antibodies for GSN
	Explore super-pooled esiRNAs		Proteins for GSN
	Lentivirus-delivered shRNAs for GSN		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (GSN)
	Antibodies (GSN)
	Chimera RNAi (GSN)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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Antibodies for GSN

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GSN Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for GSN

Summaries
for GSN

Genomic Location
for GSN

Proteins
for GSN

Protein Domains/
Families
for GSN

Gene Function
for GSN

Pathways & Interactions
for GSN

Drugs & Compounds
for GSN

Transcripts
for GSN

Expression
for GSN

Orthologs
for GSN

Paralogs
for GSN

SNPs/Variants
for GSN

Disorders & Mutations
for GSN

Medical News
for GSN

Publications
for GSN

Search for GSN

Genome Databases showing GSN

Other Databases showing GSN

Specialized Databases showing GSN

Licensable Technologies
for GSN

Services
for GSN

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GSN Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor GSN

Summariesfor GSN

Genomic Locationfor GSN

Proteinsfor GSN

Protein Domains/Familiesfor GSN

Gene Functionfor GSN

Pathways & Interactionsfor GSN

Drugs & Compoundsfor GSN

Transcriptsfor GSN

Expression for GSN

Orthologsfor GSN

Paralogsfor GSN

SNPs/Variantsfor GSN

Disorders & Mutationsfor GSN

Medical Newsfor GSN

Publicationsfor GSN

Search for GSN

Genome Databases showing GSN

Other Databases showing GSN

Specialized Databases showing GSN

Licensable Technologiesfor GSN

Servicesfor GSN

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GSN

Summaries
for GSN

Genomic Location
for GSN

Proteins
for GSN

Protein Domains/
Families
for GSN

Gene Function
for GSN

Pathways & Interactions
for GSN

Drugs & Compounds
for GSN

Transcripts
for GSN

Expression
for GSN

Orthologs
for GSN

Paralogs
for GSN

SNPs/Variants
for GSN

Disorders & Mutations
for GSN

Medical News
for GSN

Publications
for GSN

Licensable Technologies
for GSN

Services
for GSN