IRS4 (insulin receptor substrate 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 8471
Gene name Insulin receptor substrate 4
Gene symbol IRS4
Synonyms (NCBI Gene)
CHNG9IRS-4PY160
Chromosome X
Chromosome location Xq22.3
Summary IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules t
SNPs SNP information provided by dbSNP.
1
Gene SNPs Other IDs Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1603336347 AGCAC>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
80
Gene SNPs Other IDs Associated diseases
Show/Hide all (80)
miRTarBase ID miRNA Experiments Reference
MIRT052242 hsa-let-7b-5p CLASH 23622248
MIRT051562 hsa-let-7e-5p CLASH 23622248
MIRT051115 hsa-miR-16-5p CLASH 23622248
MIRT050656 hsa-miR-18a-5p CLASH 23622248
MIRT046599 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs Other IDs Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005158 Function Insulin receptor binding IBA
GO:0005158 Function Insulin receptor binding IEA
GO:0005515 Function Protein binding IPI 11316748, 16273093, 20562859, 25036637, 35044719, 36931259
GO:0005829 Component Cytosol IBA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
300904 6128 ENSG00000133124
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14654
Protein name Insulin receptor substrate 4 (IRS-4) (160 kDa phosphotyrosine protein) (py160) (Phosphoprotein of 160 kDa) (pp160)
Protein function Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02174 IRS 231 → 333 PTB domain (IRS-1 type) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in myoblasts. Expressed in liver and hepatocellular carcinoma. {ECO:0000269|PubMed:12639902, ECO:0000269|PubMed:17408801}.
Sequence 
MASCSFTRDQATRRLRGAAAAAAAALAAVVTTPLLSSGTPTALIGTGSSCPGAMWLSTAT
GSRSDSESEEEDLPVGEEVCKRGYLRKQKHGHRRYFVLKLETADAPARLEYYENARKFRH
SVRAAAAAAAAAASGAAIPPLIPPRRVITLYQCFSVSQRADARYRHLIALFTQDEYFAMV
AENESEQESWYLLLSRLILESKRRRCGTLGAQPDGEPAALAAAAAAEPPFYKDVWQVIVK
PRGLGHRKELSGVFRLCLTDEEVVFVRLNTEVASVVVQLLSIRRCGHSEQYFFLEVGRST
VIGPGELWMQVDDCVVAQNMHELFLEKMRALCADEYRARCRSYSISIGAHLLTLLSARRH
LGLVPLEPGGWLRRSRFEQFCHLRAIGDGEDEMLFTRRFVTPSEPVAHSRRGRLHLPRGR
RSRRAVSVPASFFRRLAPSPARPRHPAEAPNNGARLSSEVSGSGSGNFGEEGNPQGKEDQ
EGSGGDYMPMNNWGSGNGRGSGGGQGSNGQGSSSHSSGGNQCSGEGQGSRGGQGSNGQGS
GGNQCSRDGQGTAGGHGSGGGQRPGGGHGSGGGQGPGDGHGSGGGKNSGGGKGSGSGKGS
DGDGERGKSLKKRSYFGKLTQSKQQQMPPPPPPPPPPPPAGGTGGKGKSGGRFRLYFCVD
RGATKECKEAKEVKDAEIPEGAARGPHRARAFDEDEDDPYVPMRPGVATPLVSSSDYMPM
APQNVSASKKRHSRSPFEDSRGYMMMFPRVSPPPAPSPPKAPDTNKEDDSKDNDSESDYM
FMAPGAGAIPKNPRNPQGGSSSKSWSSYFSLPNPFRSSPLGQNDNSEYVPMLPGKFLGRG
LDKEVSYNWDPKDAASKPSGEGSFSKPGDGGSPSKPSDHEPPKNKAKRPNRLSFITKGYK
IKPKPQKPTHEQREADSSSDYVNMDFTKRESNTPAPSTQGLPDSWGIIAEPRQSAFSNYV
NVEFGVPFPNPANDLSDLLRAIPRANPLSLDSARWPLPPLPLSATGSNAIEEEGDYIEVI
FNSAMTPAMALADSAIRYDAETGRIYVVDPFSECCMDISLSPSRCSEPPPVARLLQEEEQ
ERRRPQSRSQSFFAAARAAVSAFPTDSLERDLSPSSAPAVASAAEPTLALSQVVAAASAL
AAAPGIGAAAAAAGFDSASARWFQPVANAADAEAVRGAQDVAGGSNPGAHNPSANLARGD
NQAGGAAAAAAAPEPPPRSRRVPRPPEREDSDNDDDTHVRMDFARRDNQFDSPKRGR
Sequence length 1257
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypothyroidism, congenital, nongoitrous, 9 Likely pathogenic; Pathogenic rs760832986, rs780982673, rs1603336347 RCV000852283
RCV000852284
RCV000852285
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IRS4-related disorder Likely benign rs142159004, rs142601893 RCV003982484
RCV003944657
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Angiomyoma Associate 37889065
Bipolar Disorder Associate 29531218
Carcinoma Ductal Stimulate 35743985
Carcinoma Lobular Stimulate 35743985
Chronic Disease Stimulate 34220309
Diabetes Mellitus Type 2 Associate 28934129
Glioblastoma Associate 34875133
Hypothyroidism Associate 34093435
Lung Neoplasms Associate 27869826
Melanoma Associate 28475006