Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1603336347	AGCAC>-	Pathogenic	Coding sequence variant, frameshift variant

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
MIRT046069	hsa-miR-125b-5p	CLASH	23622248
MIRT045789	hsa-miR-191-5p	CLASH	23622248
MIRT043291	hsa-miR-331-3p	CLASH	23622248
MIRT043291	hsa-miR-331-3p	CLASH	23622248
MIRT042143	hsa-miR-484	CLASH	23622248
MIRT041502	hsa-miR-193b-3p	CLASH	23622248
MIRT040876	hsa-miR-18a-3p	CLASH	23622248
MIRT040218	hsa-miR-615-3p	CLASH	23622248
MIRT040218	hsa-miR-615-3p	CLASH	23622248
MIRT039541	hsa-miR-652-3p	CLASH	23622248
MIRT038245	hsa-miR-330-5p	CLASH	23622248
MIRT037488	hsa-miR-744-5p	CLASH	23622248
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	28735896
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	28735896
MIRT612863	hsa-miR-505-3p	HITS-CLIP	28735896
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT612865	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT612864	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT612863	hsa-miR-505-3p	HITS-CLIP	23824327

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
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9553137
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9261155
GO:0008286	Process	Insulin receptor signaling pathway	IBA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0043548	Function	Phosphatidylinositol 3-kinase binding	IBA

MIM	HGNC	e!Ensembl
300904	6128	ENSG00000133124

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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypothyroidism, congenital, nongoitrous, 9	Likely pathogenic; Pathogenic	rs760832986, rs780982673, rs1603336347	RCV000852283 RCV000852284 RCV000852285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRS4-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24039912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	28521080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	29531218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27876799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	35743985	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	35743985	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27869826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34220309	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29353348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29185229, 29353348, 30410539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypothyroidism	Congenital Central Hypothyroidism	GENOMICS_ENGLAND_DG	10644546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypothyroidism	Congenital Central Hypothyroidism	BEFREE	30061370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	9726601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	9726601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28934129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	9726601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34875133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	LHGDN	15155816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	34093435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16871543, 19795387, 22963627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27869826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27876799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27869826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19795387, 24039912, 30026872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29353348		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28475006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28475006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25465919, 26758558, 29185229, 29353348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30026872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	19055661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15870689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	34093435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

IRS4 (insulin receptor substrate 4)