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Aliases for IGFALS Gene

Aliases for IGFALS Gene

  • Insulin Like Growth Factor Binding Protein Acid Labile Subunit 2 3 5
  • ALS 3 4
  • Insulin-Like Growth Factor-Binding Protein Complex Acid Labile Subunit 3
  • Insulin-Like Growth Factor Binding Protein Complex Acid Labile Chain 3
  • Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit 2
  • ACLSD 3

External Ids for IGFALS Gene

Previous GeneCards Identifiers for IGFALS Gene

  • GC16M001857
  • GC16M001780
  • GC16M001840

Summaries for IGFALS Gene

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 Acid-Labile Subunit, Deficiency Of and 3-M Syndrome 1. Among its related pathways are Metabolism of proteins and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is CHADL.

UniProtKB/Swiss-Prot for IGFALS Gene

  • Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.

Gene Wiki entry for IGFALS Gene

Additional gene information for IGFALS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGFALS Gene

Genomics for IGFALS Gene

Regulatory Elements for IGFALS Gene

Enhancers for IGFALS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H001825 1.4 ENCODE dbSUPER 12.4 -33.6 -33645 6.9 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 ZC3H11A NFYC SSRP1 FAHD1 CRAMP1 TELO2 ENSG00000261505 UBE2I SRRM2 ENSG00000260051 HAGH E4F1 UNKL
GH16H001832 1.3 ENCODE dbSUPER 11.8 -38.5 -38473 1.7 PKNOX1 FOXA2 ATF1 MLX ARNT ARID4B TCF12 ZNF766 GATA2 ELK1 FAHD1 HAGH IGFALS MEIOB MAPK8IP3 JPT2 PIR46763 GC16M001829 GC16M001827
GH16H001769 1.4 ENCODE dbSUPER 7.3 +22.4 22420 6.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000261505 EME2 ENSG00000260051 CRAMP1 TELO2 SRRM2 UNKL UBE2I ENSG00000260954 ENSG00000255513
GH16H001812 0.9 ENCODE 6.6 -17.7 -17685 0.7 FOXA2 ARID4B SIN3A YY1 GLIS2 ZNF143 ATF7 SP3 REST PPARG FAHD1 HAGH IGFALS GC16P001819
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IGFALS on UCSC Golden Path with GeneCards custom track

Genomic Locations for IGFALS Gene

Genomic Locations for IGFALS Gene
4,559 bases
Minus strand

Genomic View for IGFALS Gene

Genes around IGFALS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGFALS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGFALS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGFALS Gene

Proteins for IGFALS Gene

  • Protein details for IGFALS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Insulin-like growth factor-binding protein complex acid labile subunit
    Protein Accession:
    Secondary Accessions:
    • B4DZY8
    • E9PGU3

    Protein attributes for IGFALS Gene

    605 amino acids
    Molecular mass:
    66035 Da
    Quaternary structure:
    • Forms a ternary complex of about 140 to 150 kDa with IGF-I or IGF-II and IGFBP-3.

    Alternative splice isoforms for IGFALS Gene


neXtProt entry for IGFALS Gene

Post-translational modifications for IGFALS Gene

  • Glycosylation at posLast=6464, isoforms=285, posLast=9696, isoforms=2368, isoforms=2515, and posLast=580580
  • Modification sites at PhosphoSitePlus

Other Protein References for IGFALS Gene

No data available for DME Specific Peptides for IGFALS Gene

Domains & Families for IGFALS Gene

Gene Families for IGFALS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IGFALS: view

No data available for UniProtKB/Swiss-Prot for IGFALS Gene

Function for IGFALS Gene

Molecular function for IGFALS Gene

UniProtKB/Swiss-Prot Function:
Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.

Gene Ontology (GO) - Molecular Function for IGFALS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005520 insulin-like growth factor binding TAS 1379671
genes like me logo Genes that share ontologies with IGFALS: view
genes like me logo Genes that share phenotypes with IGFALS: view

Human Phenotype Ontology for IGFALS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGFALS Gene

MGI Knock Outs for IGFALS:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for IGFALS Gene

Localization for IGFALS Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGFALS Gene

Secreted, extracellular space.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGFALS gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IGFALS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 1384485
GO:0005654 nucleoplasm IDA --
GO:0042567 insulin-like growth factor ternary complex IDA 9497324
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with IGFALS: view

Pathways & Interactions for IGFALS Gene

genes like me logo Genes that share pathways with IGFALS: view

Gene Ontology (GO) - Biological Process for IGFALS Gene

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 --
genes like me logo Genes that share ontologies with IGFALS: view

No data available for SIGNOR curated interactions for IGFALS Gene

Drugs & Compounds for IGFALS Gene

(3) Drugs for IGFALS Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
Zinc Approved Pharma Target 2359
genes like me logo Genes that share compounds with IGFALS: view

Transcripts for IGFALS Gene


(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IGFALS Gene

Insulin-like growth factor binding protein, acid labile subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGFALS Gene

No ASD Table

Relevant External Links for IGFALS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IGFALS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGFALS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGFALS Gene

This gene is overexpressed in Liver (x38.2).

Protein differential expression in normal tissues from HIPED for IGFALS Gene

This gene is overexpressed in Serum (33.9), Plasma (11.2), and Synovial fluid (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IGFALS Gene

Protein tissue co-expression partners for IGFALS Gene

NURSA nuclear receptor signaling pathways regulating expression of IGFALS Gene:


SOURCE GeneReport for Unigene cluster for IGFALS Gene:


mRNA Expression by UniProt/SwissProt for IGFALS Gene:

Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for IGFALS Gene

  • Liver(4.5)
  • Bone marrow(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGFALS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • nervous
  • reproductive
  • urinary
Head and neck:
  • brain
  • eye
  • head
  • kidney
  • pancreas
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with IGFALS: view

Primer Products

Orthologs for IGFALS Gene

This gene was present in the common ancestor of animals.

Orthologs for IGFALS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IGFALS 33 34
  • 98.25 (n)
(Bos Taurus)
Mammalia IGFALS 33 34
  • 80.1 (n)
(Canis familiaris)
Mammalia IGFALS 33 34
  • 79.81 (n)
(Mus musculus)
Mammalia Igfals 33 16 34
  • 79.39 (n)
(Rattus norvegicus)
Mammalia Igfals 33
  • 79.39 (n)
(Monodelphis domestica)
Mammalia IGFALS 34
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia IGFALS 34
  • 63 (a)
(Gallus gallus)
Aves IGFALS 33 34
  • 68.74 (n)
(Anolis carolinensis)
Reptilia IGFALS 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia igfals 33
  • 61.97 (n)
(Danio rerio)
Actinopterygii si:ch211-66h3.1 33
  • 56.21 (n)
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007059 33
  • 42.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta Toll-7 35
  • 31 (a)
18w 35
  • 30 (a)
BG:DS03192.2 35
  • 30 (a)
CG7896 35
  • 30 (a)
CG8561 35
  • 30 (a)
CG5195 35
  • 29 (a)
trn 35
  • 29 (a)
CG6749 35
  • 28 (a)
Tollo 35
  • 28 (a)
CG9562 35
  • 27 (a)
haf 34
  • 8 (a)
Species where no ortholog for IGFALS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGFALS Gene

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

Paralogs for IGFALS Gene

(1) SIMAP similar genes for IGFALS Gene using alignment to 3 proteins: Pseudogenes for IGFALS Gene

genes like me logo Genes that share paralogs with IGFALS: view

Variants for IGFALS Gene

Sequence variations from dbSNP and Humsavar for IGFALS Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121909247 Pathogenic, Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,790,800(-) GGGAC(C/T)GTGGC nc-transcript-variant, reference, missense
rs551618643 Likely pathogenic, Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,791,591(+) CGCGG(C/T)TGTGG nc-transcript-variant, reference, missense
rs766004600 Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,792,200(+) CGCCC(A/G)GGACT nc-transcript-variant, reference, missense
rs774634302 Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,791,688(+) CTGGA(A/G)CCGGG nc-transcript-variant, reference, missense
rs776840046 Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,791,100(+) CAGGT(C/T)GAGCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for IGFALS Gene

Variant ID Type Subtype PubMed ID
nsv952900 CNV deletion 24416366
nsv827500 CNV gain 20364138
nsv571172 CNV loss 21841781
nsv571171 CNV gain+loss 21841781
nsv571170 CNV loss 21841781
nsv518641 CNV loss 19592680
nsv517196 CNV gain+loss 19592680
nsv482185 CNV gain 20164927
nsv471069 CNV loss 18288195
nsv457336 CNV loss 19166990
nsv1160328 CNV deletion 26073780
nsv1051692 CNV loss 25217958
nsv1042986 CNV loss 25217958
esv2422427 CNV duplication 17116639
dgv4856n54 CNV loss 21841781

Variation tolerance for IGFALS Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 64.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGFALS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGFALS Gene

Disorders for IGFALS Gene

MalaCards: The human disease database

(3) MalaCards diseases for IGFALS Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
3-m syndrome 1
  • 3-m syndrome
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards


  • Acid-labile subunit deficiency (ACLSD) [MIM:615961]: A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. {ECO:0000269 PubMed:14762184, ECO:0000269 PubMed:16507628, ECO:0000269 PubMed:17726072, ECO:0000269 PubMed:18303074, ECO:0000269 PubMed:19129715, ECO:0000269 PubMed:20389102, ECO:0000269 PubMed:21396577, ECO:0000269 PubMed:23488611}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IGFALS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IGFALS: view

No data available for Genatlas for IGFALS Gene

Publications for IGFALS Gene

  1. Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density. (PMID: 20302654) Biong M … Kristensen VN (BMC medical genomics 2010) 3 22 45 60
  2. Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. (PMID: 19129715) Fofanova-Gambetti OV … Rosenfeld RG (Hormone research 2009) 3 4 22 60
  3. Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. (PMID: 18303074) Heath KE … Campos-Barros A (The Journal of clinical endocrinology and metabolism 2008) 3 4 22 60
  4. Risk of testicular germ cell tumors and polymorphisms in the insulin-like growth factor genes. (PMID: 18349294) Chia VM … McGlynn KA (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 22 45 60
  5. Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study. (PMID: 17063263) Deming SL … Zheng W (Breast cancer research and treatment 2007) 3 22 45 60

Products for IGFALS Gene

Sources for IGFALS Gene

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