IRS4 (insulin receptor substrate 4)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8471
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin receptor substrate 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRS4
Synonyms (NCBI Gene) Gene synonyms aliases
CHNG9, IRS-4, PY160
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
300904 6128 ENSG00000133124
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypothyroidism Hypothyroidism, congenital, nongoitrous, 9 rs760832986, rs780982673, rs1603336347 N/A
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease 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