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Set Analyses:

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IGFALS Gene

protein-coding GIFtS: 58
GCID: GC16M001840

Insulin-Like Growth Factor Binding Protein, Acid Labile...

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit¹ ²
ALS² ³ ⁵
Insulin-Like Growth Factor Binding Protein Complex Acid Labile Chain²
Insulin-Like Growth Factor-Binding Protein Complex Acid Labile Subunit²

External Ids:	HGNC: 5468¹	Entrez Gene: 3483²	Ensembl: ENSG00000099769⁷	OMIM: 601489⁵	UniProtKB: P35858³

Export aliases for IGFALS gene to outside databases

Previous GC identifers: GC16M001857 GC16M001780

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IGFALS Gene:

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their

half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich

repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency,

which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms

have been found for this gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for IGFALS Gene:

IGFALS (insulin-like growth factor binding protein, acid labile subunit) is a protein-coding gene. Diseases associated with IGFALS include short stature due to primary acid-labile subunit deficiency, and acid-labile subunit deficiency. GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is GP5.

UniProtKB/Swiss-Prot: ALS_HUMAN, P35858

Function: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or

cell adhesion

Gene Wiki entry for IGFALS Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000016.10 NC_018927.2 NT_010393.17

Regulatory elements:

Regulatory transcription factor binding sites in the IGFALS gene promoter:
STAT5B STAT1 Pax-5 STAT1beta STAT1alpha YY1 CP2 STAT2 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IGFALS promoter sequence

Search Chromatin IP Primers for IGFALS

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGFALS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M001840: view genomic region (about GC identifiers)

Start:	1,840,414 bp from pter	End:	1,844,972 bp from pter
Size:	4,559 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ALS_HUMAN, P35858 (See protein sequence)

Recommended Name: Insulin-like growth factor-binding protein complex acid labile subunit precursor

Size: 605 amino acids; 66035 Da

Subunit: Forms a ternary complex of about 140 to 150 kDa with IGF-I or IGF-II and IGFBP-3

Secondary accessions: B4DZY8 E9PGU3

Alternative splicing: 2 isoforms: P35858-1 P35858-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IGFALS: NX_P35858

Explore proteomics data for IGFALS at MOPED

Post-translational modifications:

Glycosylation² at Asn64, Asn85, Asn96, Asn368, Asn515, Asn580

See IGFALS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001139478.1 NP_004961.1

ENSEMBL proteins:

ENSP00000215539 ENSP00000416683 ENSP00000456923

Reactome Protein details: P35858

IGFALS Human Recombinant Protein Products:

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	Novus Biologicals IGFALS Protein Novus Biologicals IGFALS Lysate
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IGFALS Antibody Products:

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	Novus Biologicals IGFALS Antibodies
	Abcam antibodies for IGFALS
	Cloud-Clone Corp. Antibodies for IGFALS
	ThermoFisher Antibodies for IGFALS
	LSBio Antibodies in human, mouse, rat for IGFALS

IGFALS Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for IGFALS
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for IGFALS Cloud-Clone Corp. CLIAs for IGFALS

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:

IPR000483 Cys-rich_flank_reg_C

IPR001611 Leu-rich_rpt

IPR003591 Leu-rich_rpt_typical-subtyp

IPR000372 LRR-contain_N

Graphical View of Domain Structure for InterPro Entry P35858

ProtoNet protein and cluster: P35858

3 Blocks protein domains:

IPB000372 Cysteine-rich flanking region

IPB000483 Cysteine-rich flanking region

IPB001611 Leucine-rich repeat signature

UniProtKB/Swiss-Prot: ALS_HUMAN, P35858

Similarity: Contains 19 LRR (leucine-rich) repeats

Similarity: Contains 1 LRRCT domain

Similarity: Contains 1 LRRNT domain

IGFALS for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ALS_HUMAN, P35858

Function: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or

cell adhesion

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0005520	insulin-like growth factor binding	TAS	1379671

IGFALS for ontologies About GeneDecksing

Phenotypes:
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Igfals):

growth/size/body

limbs/digits/tail

reproductive system

skeleton

IGFALS for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Igfals^tm1Yrb for IGFALS

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IGFALS

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IGFALS

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IGFALS

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IGFALS

miRNA Products:		Block miRNA regulation of human, mouse, rat IGFALS using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate IGFALS
		SwitchGear 3'UTR luciferase reporter plasmid: IGFALS 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for IGFALS
		Predesigned siRNA for gene silencing in human, mouse, rat IGFALS

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for IGFALS

Clone Products:		OriGene clones in human, mouse for IGFALS (see all 13) OriGene ORF clones in mouse, rat for IGFALS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): IGFALS (NM_004970)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IGFALS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGFALS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IGFALS
		Browse ESI BIO Cell Lines and PureStem Progenitors for IGFALS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFALS

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ALS_HUMAN, P35858: Secreted, extracellular space

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	5
nucleus	4
lysosome	1
plasma membrane	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IEA	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0070062	extracellular vesicular exosome	IDA	19056867

IGFALS for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for IGFALS About

See pathways by source

SuperPath

Contained pathways About

Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein

Metabolism of proteins

0.30

Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for IGFALS

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

IGFALS for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including IGFALS:

Hepatotoxicity in human mouse rat

Interactions:

GeneGlobe Interaction Network for IGFALS

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

Selected Interacting proteins for IGFALS (P35858³ ENSP00000215539⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IGF1	P05019³, ENSP00000302665⁴	I2D: score=2 STRING: ENSP00000302665
IGFBP5	P24593³, ENSP00000233813⁴	I2D: score=2 STRING: ENSP00000233813
IGFBP3	P17936³, ENSP00000370473⁴	I2D: score=2 STRING: ENSP00000370473
PDCD6	O75340³	I2D: score=4
F2	ENSP00000308541⁴	STRING: ENSP00000308541

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0007165	signal transduction	TAS	1384485
GO:0044267	cellular protein metabolic process	TAS	--

IGFALS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for IGFALS (ALS)

1 Novoseek inferred chemical compound relationship for IGFALS gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose	0	1	15212656 (1)

IGFALS for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for IGFALS gene (2 alternative transcripts):

NM_001146006.1 NM_004970.2

Unigene Cluster for IGFALS:

Insulin-like growth factor binding protein, acid labile subunit

Hs.839 [show with all ESTs]

Unigene Representative Sequence: NM_001146006

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000215539(uc002cmy.3 uc010uvo.2) ENST00000415638(uc010uvn.2)

ENST00000568221

miRNA Products:		Block miRNA regulation of human, mouse, rat IGFALS using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate IGFALS
		SwitchGear 3'UTR luciferase reporter plasmid: IGFALS 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for IGFALS
		Predesigned siRNA for gene silencing in human, mouse, rat IGFALS

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		GenScript: all cDNA clones in your preferred vector (see all 2): IGFALS (NM_004970)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IGFALS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IGFALS

Primer Products:		OriGene qPCR primer pairs and template standards for IGFALS OriGene qSTAR qPCR primer pairs in human, mouse for IGFALS
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat IGFALS
		QuantiTect SYBR Green Assays in human, mouse, rat IGFALS
		QuantiFast Probe-based Assays in human, mouse, rat IGFALS

Additional mRNA sequence:

AK292182.1 AK303146.1 AK313198.1 AK315808.1 BC025681.1 M86826.1 NR_027389.1

3 DOTS entries:

DT.40105965 DT.120716875 DT.120716744

3 AceView cDNA sequences:

M86826 NM_004970 BC025681

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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IGFALS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCGGCCCCCC

About this image

IGFALS expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Adipose (Muscoskeletal System) fully expand to see all 3 entries
Visceral White Adipocytes Visceral White Adipose
Body Subcutaneous White Adipose

Inner Cell Mass (Early Embryonic Tissues)
Blimp1- mVenus and stella-ECFP genetically modified stem cells

IGFALS Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

IGFALS Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.839

UniProtKB/Swiss-Prot: ALS_HUMAN, P35858

Tissue specificity: Plasma

Pathway & Disease-focused RT² Profiler PCR Array including IGFALS:

Hepatotoxicity in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for IGFALS OriGene qSTAR qPCR primer pairs in human, mouse for IGFALS
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat IGFALS
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		QuantiFast Probe-based Assays in human, mouse, rat IGFALS

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGFALS

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for IGFALS gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Igfals^{1 , 5}	insulin-like growth factor binding protein, acid labile more^{1, 5}	79.39(n)¹ 78.53(a)¹		17 (12.53 cM)⁵ 16005¹ NM_008340.3¹ NP_032366.2¹ 24878770⁵
chicken (Gallus gallus)	Aves	IGFALS¹	insulin-like growth factor binding protein, acid labile more	68.74(n) 61.38(a)		427649 XM_004945405.1 XP_004945462.1
lizard (Anolis carolinensis)	Reptilia	IGFALS⁶	insulin-like growth factor binding protein, acid l...	59(a)	1 ↔ 1	GL343649.1(345319-347055)
tropical clawed frog (Xenopus tropicalis)	Amphibia	igfals¹	insulin-like growth factor binding protein, acid labile more	61.97(n) 60.82(a)		100489984 XM_002940232.2 XP_002940278.1
zebrafish (Danio rerio)	Actinopterygii	si:ch211-66h3.1¹	si:ch211-66h3.1	56.21(n) 53.05(a)		570758 XM_003198155.2 XP_003198203.1
fruit fly (Drosophila melanogaster)	Insecta	Toll-7³	defense response transmembrane receptor	31(a) (best of 10)		56F3 --

ENSEMBL Gene Tree for IGFALS (if available)
TreeFam Gene Tree for IGFALS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for IGFALS gene

GP5² CPN2² LRIG3² LRRTM4² CHAD² LRRC15² LRIG2² LRRTM3²

CHADL² LRIG1² LRRTM2² LRRTM1² LRG1²

1 SIMAP similar gene for IGFALS using alignment to 3 protein entries: ALS_HUMAN (see all proteins):

LRIG3

IGFALS for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for IGFALS
PGOHUM00000237081

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs57415333^1,2		--	1774917(+)	`AGGGCA/GGTGGC`	3	--	ds500¹		0	--	--	--	--
rs71385717^1,2	C,F	--	1774938(+)	`CCAGGC/TGGGGG`	3	--	ds500¹		2		NA	4
rs45586541^1,2	C,F	--	1774960(-)	`CCCGGC/TTTGGC`	3	--	ds500¹		17		NA EU CSAM EA NS MN	2614
rs12933610^1,2	C,F,H	--	1775001(+)	`CCAGGC/TAACAC`	3	--	ds500¹		22		NS EA NA EU CSAM MN	2938
rs72547246^1,2	F	--	1775058(-)	`CGGCAG/CAGCAA`	3	--	ds500¹		5		MN	392
rs138399634^1,2		--	1775085(+)	`GTGGTA/GCAGTC`	3	--	ds500¹		0	--	--	--	--
rs186920848^1,2		--	1775117(+)	`CTCCCA/GGGCTC`	3	--	ds500¹		0	--	--	--	--
rs192230492^1,2		--	1775153(+)	`CTAGGA/GCCACA`	3	--	ds500¹		0	--	--	--	--
rs34007612^1,2	C,F	--	1775236(-)	`TGAGAG/AACCGT`	3	--	ds500¹		5		NA EU CSAM EA	380
rs33988059^1,2	C,F	--	1775308(-)	`GGGCTC/TGGCGC`	3	--	ds500¹		13		NA EU CSAM EA MN WA	1142

HapMap Linkage Disequilibrium report for IGFALS (1840414 - 1844972 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for IGFALS (see all 19): About this table

Variant ID	Type	Subtype	PubMed ID
esv2422427	CNV	Duplication	17116639
nsv904954	CNV	Loss	21882294
dgv2541n71	CNV	Loss	21882294
nsv457336	CNV	Loss	19166990
dgv2540n71	CNV	Loss	21882294
nsv905017	CNV	Loss	21882294
dgv2539n71	CNV	Loss	21882294
nsv905034	CNV	Loss	21882294
nsv518641	CNV	Loss	19592680
dgv2542n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): IGFALS
Locus Specific Mutation Databases (LSDB): IGFALS

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing IGFALS

DNA2.0 Custom Variant and Variant Library Synthesis for IGFALS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 601489 OMIM disorders: --

17 diseases for IGFALS:
About MalaCards

short stature due to primary acid-labile subunit deficiency acid-labile subunit deficiency central precocious puberty precocious puberty

testicular germ cell tumor acromegaly lung cancer susceptibility congenital disorder of glycosylation

germ cell tumors short stature epididymitis atherosclerosis

breast cancer lung cancer endotheliitis prostate cancer

prostatitis

IGFALS for disorders About GeneDecksing

1 Novoseek inferred disease relationship for IGFALS gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	0.865	2	17063263 (1)

Genetic Association Database (GAD): IGFALS
Human Genome Epidemiology (HuGE) Navigator: IGFALS (18 documents)

Export disorders for IGFALS gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for IGFALS gene, integrated from 10 sources (see all 68):
(articles sorted by number of sources associating them with IGFALS)

Utopia: connect your pdf to the dynamic
world of online information

Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex. (PubMed id 1379671)^{1, 2, 3} Leong S.R.... Wood W.I. (Mol. Endocrinol. 1992)
Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes. (PubMed id 10650966)^{1, 2, 9} Suwanichkul A.... Powell D.R. (Endocrinology 2000)
Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study. (PubMed id 17063263)^{1, 4, 9} Deming S.L....Zheng W. (Breast Cancer Res. Treat. 2007)
Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density. (PubMed id 20302654)^{1, 4, 9} Biong M....Kristensen V.N. (BMC Med Genomics 2010)
Risk of testicular germ cell tumors and polymorphisms in the insulin-like growth factor genes. (PubMed id 18349294)^{1, 4, 9} Chia V.M....McGlynn K.A. (amp 2008)
Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation. (PubMed id 17546465)^{1, 4, 9} Lettre G....Hirschhorn J.N. (Hum. Genet. 2007)
Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk: results from the EPIC study. (PubMed id 16404426)^{1, 4, 9} Canzian F....Kaaks R. (Br. J. Cancer 2006)
Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse. (PubMed id 16114275)^{1, 3, 9} DomenAc H.M....Boisclair Y.R. (J. Endocrinol. Invest. 2005)
Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PubMed id 20634197)^{1, 4} Canzian F....Feigelson H.S. (Hum. Mol. Genet. 2010)
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. (PubMed id 20591980)^{1, 4} Fofanova-Gambetti O.V....Rosenfeld R.G. (J. Clin. Endocrinol. Metab. 2010)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3483	HGNC: 5468	AceView: IGFALS	Ensembl:ENSG00000099769	euGenes: HUgn3483
ECgene: IGFALS	H-InvDB: IGFALS

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for IGFALS	Pharmacogenomics, SNPs, Pathways

Intellectual Property for IGFALS gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for IGFALS gene:
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