IGFALS (insulin like growth factor binding protein acid labile subunit)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3483
Gene name Insulin like growth factor binding protein acid labile subunit
Gene symbol IGFALS
Synonyms (NCBI Gene)
ACLSDALS
Chromosome 16
Chromosome location 16p13.3
Summary 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
SNPs SNP information provided by dbSNP.
6
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs121909247 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs551618643 T>C Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs587776686 C>-,CC Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs606231171 ->GCAGGCTGC Pathogenic Inframe insertion, non coding transcript variant, coding sequence variant
rs755775132 A>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005520 Function Insulin-like growth factor binding IBA
GO:0005520 Function Insulin-like growth factor binding TAS 1379671
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601489 5468 ENSG00000099769
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35858
Protein name Insulin-like growth factor-binding protein complex acid labile subunit (ALS)
Protein function Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.
PDB 7WRQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 40 → 73 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 75 → 134 Leucine rich repeat Repeat
PF13855 LRR_8 102 → 158 Leucine rich repeat Repeat
PF13855 LRR_8 146 → 206 Leucine rich repeat Repeat
PF13855 LRR_8 195 → 254 Leucine rich repeat Repeat
PF13855 LRR_8 219 → 278 Leucine rich repeat Repeat
PF13855 LRR_8 242 → 302 Leucine rich repeat Repeat
PF13855 LRR_8 290 → 350 Leucine rich repeat Repeat
PF13855 LRR_8 338 → 398 Leucine rich repeat Repeat
PF13855 LRR_8 386 → 446 Leucine rich repeat Repeat
PF13855 LRR_8 434 → 494 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Plasma.
Sequence 
MALRKGGLALALLLLSWVALGPRSLEGADPGTPGEAEGPACPAACVCSYDDDADELSVFC
SSRNLTRLPDGVPGGTQALWLDGNNLSSVPPAAFQNLSSLGFLNLQGGQLGSLEPQALLG
LENLCHLHLERNQLRSLALGTFAHTPALASLGLSNNRLSRLEDGLFEGLGSLWDLNLGWN
SLAVLPDAAFRGLGSLRELVLAGNRLAYLQPALFSGLAELRELDLSRNALRAIKANVFVQ
LPRLQKLYLDRNLIAAVAPGAFLGLKALRWLDLSHNRVAGLLEDTFPGLLGLRVLRLSHN
AIASLRPRTFKDLHFLEELQLGHNRIRQLAERSFEGLGQLEVLTLDHNQLQEVKAGAFLG
LTNVAVMNLSGNCLRNLPEQVFRGLGKLHSLHLEGSCLGRIRPHTFTGLSGLRRLFLKDN
GLVGIEEQSLWGLAELLELDLTSNQLTHLPHRLFQGLGKLEYLLLSRNRLAELPADALGP
LQRAFWLDVSHNRLEALPNSLLAPLGRLRYLSLRNNSLRTFTPQPPGLERLWLEGNPWDC
GCPLKALRDFALQNPSAVPRFVQAICEGDDCQPPAYTYNNITCASPPEVVGLDLRDLSEA
HFAPC
Sequence length 605
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Growth hormone synthesis, secretion and action   Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature due to primary acid-labile subunit deficiency Pathogenic; Likely pathogenic rs587776686, rs121909247, rs2548157942, rs551618643 RCV000008600
RCV000008601
RCV003449007
RCV000369230
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGFALS-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (135)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia BEFREE 23942216
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome BEFREE 29214883
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 10496267, 10545780, 10595524, 12093078, 12441104, 12507415, 12574946, 12630951, 14583292, 14694044, 15184633, 15657798, 15663483, 16093455, 17166276
View all (130 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 10625639, 10735277, 15310460, 19618195, 22185396, 22773853, 23286750, 25306968, 2739919, 28709720, 9349552, 9376520, 9444365
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) Amyotrophic lateral sclerosis BEFREE 25409455
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 10448977, 14517684, 18539273, 19618195, 19762508, 21364087, 22185396, 22773853, 23597337, 23781106, 24092880, 26142125, 26878886, 2739919, 29792928
View all (3 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form Amyotrophic lateral sclerosis BEFREE 12899197, 24918341
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 19332388, 20884065, 21062492, 24138988, 25384182, 28808785, 29881994, 29938835, 8988176
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 28913566
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 30778698
★★★★★
★☆☆☆☆
Found in Text Mining only