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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3636
Gene name	Inositol polyphosphate phosphatase like 1
Gene symbol	INPPL1
Synonyms (NCBI Gene)	OPSMDSHIP2
Chromosome	11
Chromosome location	11q13.4
Summary	The protein encoded by this gene is an SH2-containing 5`-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodellin

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs655423	G>A,C	Pathogenic	Splice donor variant
rs368970014	C>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs397514508	C>T	Pathogenic	Missense variant, coding sequence variant
rs397514509	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs397514510	C>T	Pathogenic	Missense variant, coding sequence variant
rs397514511	C>T	Pathogenic	Missense variant, coding sequence variant
rs397514512	T>A	Pathogenic	Missense variant, coding sequence variant
rs746647683	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044468	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044469	AGACC>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044470	GAGGAGCTGCTGGCCCGGGCGGGCCGCG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs878853119	GGGCCCGGGGGGCGCC>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs878853120	G>C	Pathogenic	Missense variant, coding sequence variant
rs878853121	ACCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853122	->G	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs878853123	C>T	Pathogenic	Missense variant, coding sequence variant
rs1135401750	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1135401751	G>-	Pathogenic	Coding sequence variant, frameshift variant

205

Show/Hide all (205)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003238	hsa-miR-205-5p	Western blotLuciferase reporter assayNorthern blot	19033458
MIRT003238	hsa-miR-205-5p	Western blotLuciferase reporter assayNorthern blot	19033458
MIRT003238	hsa-miR-205-5p	Western blotLuciferase reporter assayNorthern blot	19033458
MIRT003238	hsa-miR-205-5p	Western blotLuciferase reporter assayNorthern blot	19033458
MIRT004354	hsa-miR-184	Western blotLuciferase reporter assayNorthern blot	19033458
MIRT004354	hsa-miR-184	Western blotLuciferase reporter assayNorthern blot	19033458
MIRT003238	hsa-miR-205-5p	Luciferase reporter assay	19033458
MIRT003238	hsa-miR-205-5p	Luciferase reporter assay	20065103
MIRT018943	hsa-miR-335-5p	Microarray	18185580
MIRT003238	hsa-miR-205-5p	Reporter assay;Western blot;Other	19033458
MIRT032460	hsa-let-7b-5p	Proteomics	18668040
MIRT046205	hsa-miR-27b-3p	CLASH	23622248
MIRT043623	hsa-miR-326	CLASH	23622248
MIRT039295	hsa-miR-671-5p	CLASH	23622248
MIRT004354	hsa-miR-184	Luciferase reporter assay	24183204
MIRT004354	hsa-miR-184	Luciferase reporter assay	24183204
MIRT004354	hsa-miR-184	Luciferase reporter assay	24183204
MIRT004354	hsa-miR-184	Luciferase reporter assay	24183204
MIRT1067469	hsa-miR-10a	CLIP-seq
MIRT1067470	hsa-miR-10b	CLIP-seq
MIRT1067471	hsa-miR-1180	CLIP-seq
MIRT1067472	hsa-miR-1321	CLIP-seq
MIRT1067473	hsa-miR-135a	CLIP-seq
MIRT1067474	hsa-miR-135b	CLIP-seq
MIRT1067475	hsa-miR-1913	CLIP-seq
MIRT1067476	hsa-miR-205	CLIP-seq
MIRT1067477	hsa-miR-2861	CLIP-seq
MIRT1067478	hsa-miR-29a	CLIP-seq
MIRT1067479	hsa-miR-29b	CLIP-seq
MIRT1067480	hsa-miR-29c	CLIP-seq
MIRT1067481	hsa-miR-3065-3p	CLIP-seq
MIRT1067482	hsa-miR-3184	CLIP-seq
MIRT1067483	hsa-miR-3189-5p	CLIP-seq
MIRT1067484	hsa-miR-324-3p	CLIP-seq
MIRT1067485	hsa-miR-339-5p	CLIP-seq
MIRT1067486	hsa-miR-3667-5p	CLIP-seq
MIRT1067487	hsa-miR-3687	CLIP-seq
MIRT1067488	hsa-miR-3940-3p	CLIP-seq
MIRT1067489	hsa-miR-3944-3p	CLIP-seq
MIRT1067490	hsa-miR-423-5p	CLIP-seq
MIRT1067491	hsa-miR-4270	CLIP-seq
MIRT1067492	hsa-miR-4327	CLIP-seq
MIRT1067493	hsa-miR-4436a	CLIP-seq
MIRT1067494	hsa-miR-4441	CLIP-seq
MIRT1067495	hsa-miR-4442	CLIP-seq
MIRT1067496	hsa-miR-4449	CLIP-seq
MIRT1067497	hsa-miR-4459	CLIP-seq
MIRT1067498	hsa-miR-4532	CLIP-seq
MIRT1067499	hsa-miR-4656	CLIP-seq
MIRT1067500	hsa-miR-4664-3p	CLIP-seq
MIRT1067501	hsa-miR-4690-5p	CLIP-seq
MIRT1067502	hsa-miR-4695-5p	CLIP-seq
MIRT1067503	hsa-miR-4696	CLIP-seq
MIRT1067504	hsa-miR-4700-3p	CLIP-seq
MIRT1067505	hsa-miR-4722-3p	CLIP-seq
MIRT1067506	hsa-miR-4725-5p	CLIP-seq
MIRT1067507	hsa-miR-4728-5p	CLIP-seq
MIRT1067508	hsa-miR-4739	CLIP-seq
MIRT1067509	hsa-miR-4756-5p	CLIP-seq
MIRT1067510	hsa-miR-4758-3p	CLIP-seq
MIRT1067511	hsa-miR-4773	CLIP-seq
MIRT1067512	hsa-miR-485-5p	CLIP-seq
MIRT1067513	hsa-miR-504	CLIP-seq
MIRT1067514	hsa-miR-579	CLIP-seq
MIRT1067515	hsa-miR-665	CLIP-seq
MIRT2016389	hsa-miR-1273g	CLIP-seq
MIRT1067473	hsa-miR-135a	CLIP-seq
MIRT1067474	hsa-miR-135b	CLIP-seq
MIRT2016390	hsa-miR-1470	CLIP-seq
MIRT2016391	hsa-miR-1538	CLIP-seq
MIRT2016392	hsa-miR-18a	CLIP-seq
MIRT2016393	hsa-miR-18b	CLIP-seq
MIRT1067475	hsa-miR-1913	CLIP-seq
MIRT2016394	hsa-miR-1972	CLIP-seq
MIRT2016395	hsa-miR-2355-5p	CLIP-seq
MIRT2016396	hsa-miR-3121-3p	CLIP-seq
MIRT1067483	hsa-miR-3189-5p	CLIP-seq
MIRT2016397	hsa-miR-3190	CLIP-seq
MIRT2016398	hsa-miR-3202	CLIP-seq
MIRT1067484	hsa-miR-324-3p	CLIP-seq
MIRT2016399	hsa-miR-3907	CLIP-seq
MIRT2016400	hsa-miR-4268	CLIP-seq
MIRT2016401	hsa-miR-4287	CLIP-seq
MIRT2016402	hsa-miR-4299	CLIP-seq
MIRT2016403	hsa-miR-4436b-3p	CLIP-seq
MIRT2016404	hsa-miR-4447	CLIP-seq
MIRT2016405	hsa-miR-4469	CLIP-seq
MIRT2016406	hsa-miR-4472	CLIP-seq
MIRT2016407	hsa-miR-4477a	CLIP-seq
MIRT2016408	hsa-miR-4488	CLIP-seq
MIRT2016409	hsa-miR-4493	CLIP-seq
MIRT2016410	hsa-miR-4533	CLIP-seq
MIRT2016411	hsa-miR-4650-5p	CLIP-seq
MIRT2016412	hsa-miR-4667-3p	CLIP-seq
MIRT2016413	hsa-miR-4685-3p	CLIP-seq
MIRT2016414	hsa-miR-4697-5p	CLIP-seq
MIRT1067505	hsa-miR-4722-3p	CLIP-seq
MIRT2016415	hsa-miR-4735-3p	CLIP-seq
MIRT2016416	hsa-miR-4738-3p	CLIP-seq
MIRT2016417	hsa-miR-4745-3p	CLIP-seq
MIRT2016418	hsa-miR-4747-3p	CLIP-seq
MIRT1067510	hsa-miR-4758-3p	CLIP-seq
MIRT2016419	hsa-miR-4768-3p	CLIP-seq
MIRT2016420	hsa-miR-4783-3p	CLIP-seq
MIRT2016421	hsa-miR-4796-3p	CLIP-seq
MIRT2016422	hsa-miR-582-3p	CLIP-seq
MIRT1067515	hsa-miR-665	CLIP-seq
MIRT1067469	hsa-miR-10a	CLIP-seq
MIRT1067470	hsa-miR-10b	CLIP-seq
MIRT1067471	hsa-miR-1180	CLIP-seq
MIRT1067473	hsa-miR-135a	CLIP-seq
MIRT1067474	hsa-miR-135b	CLIP-seq
MIRT1067475	hsa-miR-1913	CLIP-seq
MIRT1067476	hsa-miR-205	CLIP-seq
MIRT2016395	hsa-miR-2355-5p	CLIP-seq
MIRT1067478	hsa-miR-29a	CLIP-seq
MIRT1067479	hsa-miR-29b	CLIP-seq
MIRT1067480	hsa-miR-29c	CLIP-seq
MIRT1067481	hsa-miR-3065-3p	CLIP-seq
MIRT2016396	hsa-miR-3121-3p	CLIP-seq
MIRT1067483	hsa-miR-3189-5p	CLIP-seq
MIRT1067484	hsa-miR-324-3p	CLIP-seq
MIRT1067485	hsa-miR-339-5p	CLIP-seq
MIRT1067487	hsa-miR-3687	CLIP-seq
MIRT1067493	hsa-miR-4436a	CLIP-seq
MIRT2016403	hsa-miR-4436b-3p	CLIP-seq
MIRT1067495	hsa-miR-4442	CLIP-seq
MIRT1067496	hsa-miR-4449	CLIP-seq
MIRT1067498	hsa-miR-4532	CLIP-seq
MIRT1067500	hsa-miR-4664-3p	CLIP-seq
MIRT1067504	hsa-miR-4700-3p	CLIP-seq
MIRT1067505	hsa-miR-4722-3p	CLIP-seq
MIRT1067506	hsa-miR-4725-5p	CLIP-seq
MIRT1067510	hsa-miR-4758-3p	CLIP-seq
MIRT1067513	hsa-miR-504	CLIP-seq
MIRT1067514	hsa-miR-579	CLIP-seq
MIRT1067473	hsa-miR-135a	CLIP-seq
MIRT1067474	hsa-miR-135b	CLIP-seq
MIRT2016392	hsa-miR-18a	CLIP-seq
MIRT2016393	hsa-miR-18b	CLIP-seq
MIRT1067475	hsa-miR-1913	CLIP-seq
MIRT1067483	hsa-miR-3189-5p	CLIP-seq
MIRT1067484	hsa-miR-324-3p	CLIP-seq
MIRT1067505	hsa-miR-4722-3p	CLIP-seq
MIRT2016415	hsa-miR-4735-3p	CLIP-seq
MIRT1067510	hsa-miR-4758-3p	CLIP-seq
MIRT2552169	hsa-miR-1200	CLIP-seq
MIRT2552170	hsa-miR-1256	CLIP-seq
MIRT2552171	hsa-miR-1296	CLIP-seq
MIRT1067473	hsa-miR-135a	CLIP-seq
MIRT1067474	hsa-miR-135b	CLIP-seq
MIRT2016390	hsa-miR-1470	CLIP-seq
MIRT1067475	hsa-miR-1913	CLIP-seq
MIRT2016395	hsa-miR-2355-5p	CLIP-seq
MIRT2552172	hsa-miR-2909	CLIP-seq
MIRT2552173	hsa-miR-3150a-3p	CLIP-seq
MIRT2552174	hsa-miR-3157-3p	CLIP-seq
MIRT2552175	hsa-miR-3175	CLIP-seq
MIRT1067482	hsa-miR-3184	CLIP-seq
MIRT1067483	hsa-miR-3189-5p	CLIP-seq
MIRT1067484	hsa-miR-324-3p	CLIP-seq
MIRT2552176	hsa-miR-361-3p	CLIP-seq
MIRT1067490	hsa-miR-423-5p	CLIP-seq
MIRT2552177	hsa-miR-4321	CLIP-seq
MIRT2552178	hsa-miR-4324	CLIP-seq
MIRT2016403	hsa-miR-4436b-3p	CLIP-seq
MIRT2016405	hsa-miR-4469	CLIP-seq
MIRT2552179	hsa-miR-4484	CLIP-seq
MIRT2552180	hsa-miR-4651	CLIP-seq
MIRT2016412	hsa-miR-4667-3p	CLIP-seq
MIRT2552181	hsa-miR-4688	CLIP-seq
MIRT1067505	hsa-miR-4722-3p	CLIP-seq
MIRT1067510	hsa-miR-4758-3p	CLIP-seq
MIRT2552182	hsa-miR-4761-3p	CLIP-seq
MIRT2016419	hsa-miR-4768-3p	CLIP-seq
MIRT2552183	hsa-miR-4781-5p	CLIP-seq
MIRT2552184	hsa-miR-4787-5p	CLIP-seq
MIRT2552185	hsa-miR-486-3p	CLIP-seq
MIRT2552186	hsa-miR-491-5p	CLIP-seq
MIRT2552187	hsa-miR-518a-5p	CLIP-seq
MIRT2552188	hsa-miR-527	CLIP-seq
MIRT2552189	hsa-miR-544b	CLIP-seq
MIRT2552190	hsa-miR-608	CLIP-seq
MIRT1067515	hsa-miR-665	CLIP-seq
MIRT2552191	hsa-miR-939	CLIP-seq
MIRT2552169	hsa-miR-1200	CLIP-seq
MIRT1067473	hsa-miR-135a	CLIP-seq
MIRT1067474	hsa-miR-135b	CLIP-seq
MIRT2016390	hsa-miR-1470	CLIP-seq
MIRT1067475	hsa-miR-1913	CLIP-seq
MIRT1067483	hsa-miR-3189-5p	CLIP-seq
MIRT1067484	hsa-miR-324-3p	CLIP-seq
MIRT2552176	hsa-miR-361-3p	CLIP-seq
MIRT2682847	hsa-miR-3620	CLIP-seq
MIRT2682848	hsa-miR-3914	CLIP-seq
MIRT2682849	hsa-miR-3928	CLIP-seq
MIRT2552178	hsa-miR-4324	CLIP-seq
MIRT2016405	hsa-miR-4469	CLIP-seq
MIRT2016412	hsa-miR-4667-3p	CLIP-seq
MIRT1067505	hsa-miR-4722-3p	CLIP-seq
MIRT2682850	hsa-miR-4737	CLIP-seq
MIRT1067510	hsa-miR-4758-3p	CLIP-seq
MIRT2682851	hsa-miR-4786-5p	CLIP-seq
MIRT2552189	hsa-miR-544b	CLIP-seq
MIRT2682852	hsa-miR-769-5p	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	ISS
GO:0000922	Component	Spindle pole	IEA
GO:0000922	Component	Spindle pole	ISS
GO:0001958	Process	Endochondral ossification	IMP	23273569
GO:0002376	Process	Immune system process	IEA
GO:0003779	Function	Actin binding	IEA
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IBA
GO:0005515	Function	Protein binding	IPI	9485206, 11158326, 12504111, 16302969, 18692052, 20368287, 20933011, 21712384, 22244754, 24728074, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006897	Process	Endocytosis	IMP	15668240
GO:0006915	Process	Apoptotic process	IEA
GO:0007015	Process	Actin filament organization	IMP	15668240
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	15668240
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009925	Component	Basal plasma membrane	IEA
GO:0009925	Component	Basal plasma membrane	ISS
GO:0010467	Process	Gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030175	Component	Filopodium	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032880	Process	Regulation of protein localization	ISS
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0042169	Function	SH2 domain binding	IPI	5668240
GO:0042995	Component	Cell projection	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043569	Process	Negative regulation of insulin-like growth factor receptor signaling pathway	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0050776	Process	Regulation of immune response	IBA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0097178	Process	Ruffle assembly	IEA
GO:0110053	Process	Regulation of actin filament organization	ISS

MIM	HGNC	e!Ensembl
600829	6080	ENSG00000165458

O15357

Protein name

Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 (EC 3.1.3.86) (Inositol polyphosphate phosphatase-like protein 1) (INPPL-1) (Protein 51C) (SH2 domain-containing inositol 5'-phosphatase 2) (SH2 domain-containing inositol phosphatase 2) (SHIP-2)

Protein function

Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pat

PDB

2K4P , 2KSO , 2MK2 , 3NR8 , 4A9C , 5OKM , 5OKN , 5OKO , 5OKP , 6SQU , 6SRR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00017	SH2	21 → 102	SH2 domain	Domain
PF03372	Exo_endo_phos	429 → 718	Endonuclease/Exonuclease/phosphatase family	Domain
PF00536	SAM_1	1200 → 1258	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, most prominently in skeletal muscle, heart and brain. Present in platelets. Expressed in transformed myeloid cells and in primary macrophages, but not in peripheral blood monocytes. {ECO:0000269|PubMed:12676785, ECO:0

Sequence

MASACGAPGPGGALGSQAPSWYHRDLSRAAAEELLARAGRDGSFLVRDSESVAGAFALCV
LYQKHVHTYRILPDGEDFLAVQTSQGVPVRRFQTLGELIGLYAQPNQGLVCALLLPVEGE
REPDPPDDRDASDGEDEKPPLPPRSGSTSISAPTGPSSPLPAPETPTAPAAESAPNGLST
VSHDYLKGSYGLDLEAVRGGASHLPHLTRTLATSCRRLHSEVDKVLSGLEILSKVFDQQS
SPMVTRLLQQQNLPQTGEQELESLVLKLSVLKDFLSGIQKKALKALQDMSSTAPPAPQPS
TRKAKTIPVQAFEVKLDVTLGDLTKIGKSQKFTLSVDVEGGRLVLLRRQRDSQEDWTTFT
HDRIRQLIKSQRVQNKLGVVFEKEKDRTQRKDFIFVSARKREAFCQLLQLMKNKHSKQDE
PDMISVFIGTWNMGSVPPPKNVTSWFTSKGLGKTLDEVTVTIPHDIYVFGTQENSVGDRE
WLDLLRGGLKELTDLDYRPIAMQSLWNIKVAVLVKPEHENRISHVSTSSVKTGIANTLGN
KGAVGVSFMFNGTSFGFVNCHLTSGNEKTARRNQNYLDILRLLSLGDRQLNAFDISLRFT
HLFWFGDLNYRLDMDIQEILNYISRKEFEPLLRVDQLNLEREKHKVFLRFSEEEISFPPT
YRYERGSRDTYAWHKQKPTGVRTNVPSWCDRILWKSYPETHIICNSYGCTDDIVTSDHSP
VFGTFEVGVTSQFISKKGLSKTSDQAYIEFESIEAIVKTASRTKFFIEFYSTCLEEYKKS
FENDAQSSDNINFLKVQWSSRQLPTLKPILADIEYLQDQHLLLTVKSMDGYESYGECVVA
LKSMIGSTAQQFLTFLSHRGEETGNIRGSMKVRVPTERLGTRERLYEWISIDKDEAGAKS
KAPSVSRGSQEPRSGSRKPAFTEASCPLSRLFEEPEKPPPTGRPPAPPRAAPREEPLTPR
LKPEGAPEPEGVAAPPPKNSFNNPAYYVLEGVPHQLLPPEPPSPARAPVPSATKNKVAIT
VPAPQLGHHRHPRVGEGSSSDEESGGTLPPPDFPPPPLPDSAIFLPPSLDPLPGPVVRGR
GGAEARGPPPPKAHPRPPLPPGPSPASTFLGEVASGDDRSCSVLQMAKTLSEVDYAPAGP
ARSALLPGPLELQPPRGLPSDYGRPLSFPPPRIRESIQEDLAEEAPCLQGGRASGLGEAG
MSAWLRAIGLERYEEGLVHNGWDDLEFLSDITEEDLEEAGVQDPAHKRLLLDTLQLSK

Sequence length

1258

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system B cell receptor signaling pathway Fc gamma R-mediated phagocytosis Insulin signaling pathway		Synthesis of PIPs at the plasma membrane Synthesis of IP3 and IP4 in the cytosol Interleukin receptor SHC signaling

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Opsismodysplasia	Likely pathogenic; Pathogenic	rs1948918434, rs1949036008, rs779291537, rs2135438529, rs760925109, rs2135414009, rs2539251135, rs878853119, rs746647683, rs878853123, rs1135401750, rs397514508, rs397514509, rs797044468, rs655423 View all (6 more)	RCV001328856 RCV001330612 RCV001783481 RCV001782304 RCV001824203 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1948951076	RCV005928600	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INPPL1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME X	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	LHGDN	12147234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22533436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30910708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	27907247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31564892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19065064, 34990021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27716613	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28117748	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24228114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31545285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19033458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASDB_DG	23422753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31836657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19433066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24943349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24943349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25525286, 27716613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19433066, 24943349, 25525286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27716613	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	38275610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30699999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16804414, 17557929, 22486725, 26201869, 30321069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15668240	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16804414, 17557929, 22486725, 26201869, 30321069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17557929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17557929, 18061583, 25635986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22486725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12086927, 15220217, 15964236, 17557929, 18061583, 19694723, 24313349, 25635986, 30321069, 31342643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	12086927, 25635986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22486725, 29068796, 31342643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	27651465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26188518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	17557929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	17557929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10958682, 26826186, 30695232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30695232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10958682, 26826186, 30695232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17557929, 25635986	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	15220217, 17557929, 25635986, 31342643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	15220217		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
insulinoma	Insulinoma	BEFREE	18061583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31545285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17671700, 24183204, 24228114, 31357665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	24228114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24133597, 25525286, 29228424, 32179834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	25383712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31564892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31545285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26201869, 28117748, 29228424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21757001, 22033675, 26201869, 27708270, 29234063, 31545285, 31802101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19433066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17893231, 19065064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32179834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30699999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31342643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17557929, 22533436, 25635986	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15220217, 17557929, 22486725, 24313349, 31342643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	CTD_human_DG	15220217		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12149650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10194451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24133597, 24228114, 25525286, 26201869, 27716613, 30012834, 30464521, 31564892		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30753865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30103190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24133597, 31498891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	15668240, 17557929, 19065064	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	15964236, 17557929, 20616095, 27708270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Opsismodysplasia	Opsismodysplasia	ORPHANET_DG	23263569, 23273567		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsismodysplasia	Opsismodysplasia	BEFREE	23273567, 23273569, 23552673, 27708270, 27907247, 28869677		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsismodysplasia	Opsismodysplasia	CLINVAR_DG	23273567		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsismodysplasia	Opsismodysplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsismodysplasia	Opsismodysplasia	GENOMICS_ENGLAND_DG	23273569		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsismodysplasia	Opsismodysplasia	UNIPROT_DG	23273569		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsismodysplasia	Opsismodysplasia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	BEFREE	23273569, 28869677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30464521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schneckenbecken dysplasia	Schneckenbecken Dysplasia	ORPHANET_DG	25997753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schneckenbecken dysplasia	Schneckenbecken Dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	27651465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26201869, 28117748, 29228424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	26201869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28117748	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29228424, 32183047, 38200519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	27651465		★★★★★ ★☆☆☆☆ Found in Text Mining only

INPPL1 (inositol polyphosphate phosphatase like 1)