ITSN1 (intersectin 1)

Gene

• Entrez ID: 6453
• Gene name: Intersectin 1
• Gene symbol: ITSN1
• Synonyms (NCBI Gene): ITSN, SH3D1A, SH3P17
• Chromosome: 21
• Chromosome location: 21q22.11
• Summary: The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs755276554	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038428	hsa-miR-296-3p	CLASH	23622248
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT438158	hsa-miR-194-5p	Luciferase reporter assay	24197061
MIRT736682	hsa-miR-1226-5p	Microarray, qRT-PCR	32655392
MIRT1075428	hsa-miR-1208	CLIP-seq
MIRT1075429	hsa-miR-1273e	CLIP-seq
MIRT1075430	hsa-miR-1304	CLIP-seq
MIRT1075431	hsa-miR-15a	CLIP-seq
MIRT1075432	hsa-miR-15b	CLIP-seq
MIRT1075433	hsa-miR-16	CLIP-seq
MIRT1075434	hsa-miR-181a	CLIP-seq
MIRT1075435	hsa-miR-181b	CLIP-seq
MIRT1075436	hsa-miR-181c	CLIP-seq
MIRT1075437	hsa-miR-181d	CLIP-seq
MIRT1075438	hsa-miR-195	CLIP-seq
MIRT1075439	hsa-miR-2115	CLIP-seq
MIRT1075440	hsa-miR-214	CLIP-seq
MIRT1075441	hsa-miR-218	CLIP-seq
MIRT1075442	hsa-miR-2467-5p	CLIP-seq
MIRT1075443	hsa-miR-3146	CLIP-seq
MIRT1075444	hsa-miR-3188	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075446	hsa-miR-3607-5p	CLIP-seq
MIRT1075447	hsa-miR-3619-5p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075450	hsa-miR-3974	CLIP-seq
MIRT1075451	hsa-miR-3975	CLIP-seq
MIRT1075452	hsa-miR-424	CLIP-seq
MIRT1075453	hsa-miR-4255	CLIP-seq
MIRT1075454	hsa-miR-4262	CLIP-seq
MIRT1075455	hsa-miR-4266	CLIP-seq
MIRT1075456	hsa-miR-4461	CLIP-seq
MIRT1075457	hsa-miR-4468	CLIP-seq
MIRT1075458	hsa-miR-4474-3p	CLIP-seq
MIRT1075459	hsa-miR-4677-3p	CLIP-seq
MIRT1075460	hsa-miR-4690-5p	CLIP-seq
MIRT1075461	hsa-miR-4695-5p	CLIP-seq
MIRT1075462	hsa-miR-4779	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT1075464	hsa-miR-485-5p	CLIP-seq
MIRT1075465	hsa-miR-491-3p	CLIP-seq
MIRT1075466	hsa-miR-497	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT1075469	hsa-miR-636	CLIP-seq
MIRT1075470	hsa-miR-651	CLIP-seq
MIRT1075471	hsa-miR-761	CLIP-seq
MIRT1075472	hsa-miR-924	CLIP-seq
MIRT1075473	hsa-miR-1267	CLIP-seq
MIRT1075474	hsa-miR-1276	CLIP-seq
MIRT1075475	hsa-miR-203	CLIP-seq
MIRT1075476	hsa-miR-33a	CLIP-seq
MIRT1075477	hsa-miR-33b	CLIP-seq
MIRT1075478	hsa-miR-340	CLIP-seq
MIRT1075479	hsa-miR-4459	CLIP-seq
MIRT1075480	hsa-miR-4666-5p	CLIP-seq
MIRT1075481	hsa-miR-4729	CLIP-seq
MIRT1075462	hsa-miR-4779	CLIP-seq
MIRT1075482	hsa-miR-653	CLIP-seq
MIRT1075483	hsa-miR-676	CLIP-seq
MIRT2018743	hsa-miR-1226	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT2018746	hsa-miR-2277-3p	CLIP-seq
MIRT2018747	hsa-miR-3978	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT2018750	hsa-miR-4717-3p	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT2018751	hsa-miR-548a-5p	CLIP-seq
MIRT2018752	hsa-miR-548ab	CLIP-seq
MIRT2018753	hsa-miR-548ak	CLIP-seq
MIRT2018754	hsa-miR-548b-5p	CLIP-seq
MIRT2018755	hsa-miR-548c-5p	CLIP-seq
MIRT2018756	hsa-miR-548d-5p	CLIP-seq
MIRT2018757	hsa-miR-548h	CLIP-seq
MIRT2018758	hsa-miR-548i	CLIP-seq
MIRT2018759	hsa-miR-548j	CLIP-seq
MIRT2018760	hsa-miR-548n	CLIP-seq
MIRT2018761	hsa-miR-548w	CLIP-seq
MIRT2018762	hsa-miR-548y	CLIP-seq
MIRT2018763	hsa-miR-559	CLIP-seq
MIRT2018764	hsa-miR-582-3p	CLIP-seq
MIRT2018765	hsa-miR-634	CLIP-seq
MIRT1075472	hsa-miR-924	CLIP-seq
MIRT2018743	hsa-miR-1226	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2250623	hsa-miR-150	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT1075431	hsa-miR-15a	CLIP-seq
MIRT1075432	hsa-miR-15b	CLIP-seq
MIRT1075433	hsa-miR-16	CLIP-seq
MIRT1075438	hsa-miR-195	CLIP-seq
MIRT1075439	hsa-miR-2115	CLIP-seq
MIRT1075440	hsa-miR-214	CLIP-seq
MIRT2250624	hsa-miR-224	CLIP-seq
MIRT2250625	hsa-miR-2682	CLIP-seq
MIRT2250626	hsa-miR-3120-3p	CLIP-seq
MIRT2250627	hsa-miR-3158-3p	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075447	hsa-miR-3619-5p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT2250628	hsa-miR-3714	CLIP-seq
MIRT2250629	hsa-miR-3922-5p	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075452	hsa-miR-424	CLIP-seq
MIRT1075453	hsa-miR-4255	CLIP-seq
MIRT2250630	hsa-miR-4315	CLIP-seq
MIRT2250631	hsa-miR-4428	CLIP-seq
MIRT2250632	hsa-miR-4434	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT1075456	hsa-miR-4461	CLIP-seq
MIRT1075457	hsa-miR-4468	CLIP-seq
MIRT2250633	hsa-miR-449c	CLIP-seq
MIRT2250634	hsa-miR-4516	CLIP-seq
MIRT2250635	hsa-miR-4659a-3p	CLIP-seq
MIRT2250636	hsa-miR-4659b-3p	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT1075459	hsa-miR-4677-3p	CLIP-seq
MIRT1075460	hsa-miR-4690-5p	CLIP-seq
MIRT2250637	hsa-miR-4713-5p	CLIP-seq
MIRT2018750	hsa-miR-4717-3p	CLIP-seq
MIRT2250638	hsa-miR-4790-5p	CLIP-seq
MIRT1075466	hsa-miR-497	CLIP-seq
MIRT2250639	hsa-miR-510	CLIP-seq
MIRT2250640	hsa-miR-512-5p	CLIP-seq
MIRT2250641	hsa-miR-532-3p	CLIP-seq
MIRT2250642	hsa-miR-548v	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT2018765	hsa-miR-634	CLIP-seq
MIRT1075471	hsa-miR-761	CLIP-seq
MIRT2018743	hsa-miR-1226	CLIP-seq
MIRT2018765	hsa-miR-634	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075428	hsa-miR-1208	CLIP-seq
MIRT2554093	hsa-miR-1279	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2554094	hsa-miR-136	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT1075434	hsa-miR-181a	CLIP-seq
MIRT1075435	hsa-miR-181b	CLIP-seq
MIRT1075436	hsa-miR-181c	CLIP-seq
MIRT1075437	hsa-miR-181d	CLIP-seq
MIRT2554095	hsa-miR-1909	CLIP-seq
MIRT2554096	hsa-miR-19a	CLIP-seq
MIRT2554097	hsa-miR-19b	CLIP-seq
MIRT2554098	hsa-miR-2278	CLIP-seq
MIRT2554099	hsa-miR-302f	CLIP-seq
MIRT2554100	hsa-miR-30a	CLIP-seq
MIRT2554101	hsa-miR-30b	CLIP-seq
MIRT2554102	hsa-miR-30c	CLIP-seq
MIRT2554103	hsa-miR-30d	CLIP-seq
MIRT2554104	hsa-miR-30e	CLIP-seq
MIRT2554105	hsa-miR-3130-3p	CLIP-seq
MIRT2554106	hsa-miR-3137	CLIP-seq
MIRT2554107	hsa-miR-3160-5p	CLIP-seq
MIRT2554108	hsa-miR-3163	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075446	hsa-miR-3607-5p	CLIP-seq
MIRT2554109	hsa-miR-3619-3p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT2554110	hsa-miR-3670	CLIP-seq
MIRT2554111	hsa-miR-3692	CLIP-seq
MIRT2554112	hsa-miR-3936	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075450	hsa-miR-3974	CLIP-seq
MIRT2018747	hsa-miR-3978	CLIP-seq
MIRT1075454	hsa-miR-4262	CLIP-seq
MIRT2554113	hsa-miR-4270	CLIP-seq
MIRT2554114	hsa-miR-4282	CLIP-seq
MIRT2250630	hsa-miR-4315	CLIP-seq
MIRT2554115	hsa-miR-4323	CLIP-seq
MIRT2554116	hsa-miR-4325	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT2554117	hsa-miR-4441	CLIP-seq
MIRT1075458	hsa-miR-4474-3p	CLIP-seq
MIRT2554118	hsa-miR-4495	CLIP-seq
MIRT2554119	hsa-miR-4517	CLIP-seq
MIRT2554120	hsa-miR-4539	CLIP-seq
MIRT2554121	hsa-miR-4668-5p	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT2554122	hsa-miR-4680-5p	CLIP-seq
MIRT2554123	hsa-miR-4716-3p	CLIP-seq
MIRT2554124	hsa-miR-4724-5p	CLIP-seq
MIRT2554125	hsa-miR-4756-3p	CLIP-seq
MIRT2554126	hsa-miR-4776-3p	CLIP-seq
MIRT2554127	hsa-miR-4786-5p	CLIP-seq
MIRT2250638	hsa-miR-4790-5p	CLIP-seq
MIRT2554128	hsa-miR-4793-3p	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT2554129	hsa-miR-487b	CLIP-seq
MIRT2554130	hsa-miR-520f	CLIP-seq
MIRT2554131	hsa-miR-548ag	CLIP-seq
MIRT2554132	hsa-miR-548ai	CLIP-seq
MIRT2554133	hsa-miR-556-5p	CLIP-seq
MIRT2554134	hsa-miR-591	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT2554135	hsa-miR-625	CLIP-seq
MIRT2554136	hsa-miR-759	CLIP-seq
MIRT2554137	hsa-miR-769-5p	CLIP-seq
MIRT1075428	hsa-miR-1208	CLIP-seq
MIRT2554093	hsa-miR-1279	CLIP-seq
MIRT2018744	hsa-miR-1284	CLIP-seq
MIRT2554094	hsa-miR-136	CLIP-seq
MIRT2018745	hsa-miR-1587	CLIP-seq
MIRT2554095	hsa-miR-1909	CLIP-seq
MIRT2554096	hsa-miR-19a	CLIP-seq
MIRT2554097	hsa-miR-19b	CLIP-seq
MIRT2554098	hsa-miR-2278	CLIP-seq
MIRT2554099	hsa-miR-302f	CLIP-seq
MIRT2554100	hsa-miR-30a	CLIP-seq
MIRT2554101	hsa-miR-30b	CLIP-seq
MIRT2554102	hsa-miR-30c	CLIP-seq
MIRT2554103	hsa-miR-30d	CLIP-seq
MIRT2554104	hsa-miR-30e	CLIP-seq
MIRT2554105	hsa-miR-3130-3p	CLIP-seq
MIRT2554106	hsa-miR-3137	CLIP-seq
MIRT2554107	hsa-miR-3160-5p	CLIP-seq
MIRT2554108	hsa-miR-3163	CLIP-seq
MIRT1075445	hsa-miR-329	CLIP-seq
MIRT1075446	hsa-miR-3607-5p	CLIP-seq
MIRT2554109	hsa-miR-3619-3p	CLIP-seq
MIRT1075448	hsa-miR-362-3p	CLIP-seq
MIRT2554110	hsa-miR-3670	CLIP-seq
MIRT2554111	hsa-miR-3692	CLIP-seq
MIRT1075449	hsa-miR-3941	CLIP-seq
MIRT1075450	hsa-miR-3974	CLIP-seq
MIRT2018747	hsa-miR-3978	CLIP-seq
MIRT2554113	hsa-miR-4270	CLIP-seq
MIRT2554114	hsa-miR-4282	CLIP-seq
MIRT2250630	hsa-miR-4315	CLIP-seq
MIRT2554116	hsa-miR-4325	CLIP-seq
MIRT2018748	hsa-miR-4437	CLIP-seq
MIRT2554117	hsa-miR-4441	CLIP-seq
MIRT1075458	hsa-miR-4474-3p	CLIP-seq
MIRT2554118	hsa-miR-4495	CLIP-seq
MIRT2554119	hsa-miR-4517	CLIP-seq
MIRT2554120	hsa-miR-4539	CLIP-seq
MIRT2018749	hsa-miR-4674	CLIP-seq
MIRT2554122	hsa-miR-4680-5p	CLIP-seq
MIRT2554124	hsa-miR-4724-5p	CLIP-seq
MIRT2554125	hsa-miR-4756-3p	CLIP-seq
MIRT2554127	hsa-miR-4786-5p	CLIP-seq
MIRT2250638	hsa-miR-4790-5p	CLIP-seq
MIRT2554128	hsa-miR-4793-3p	CLIP-seq
MIRT1075463	hsa-miR-4797-5p	CLIP-seq
MIRT2554129	hsa-miR-487b	CLIP-seq
MIRT2554130	hsa-miR-520f	CLIP-seq
MIRT2554133	hsa-miR-556-5p	CLIP-seq
MIRT2554134	hsa-miR-591	CLIP-seq
MIRT1075467	hsa-miR-603	CLIP-seq
MIRT1075468	hsa-miR-624	CLIP-seq
MIRT2554136	hsa-miR-759	CLIP-seq
MIRT2554137	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	NAS	9799604
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	NAS	9799604
GO:0005515	Function	Protein binding	IPI	10064583, 12006984, 12812986, 15231748, 16696976, 16914641, 18539136, 18654987, 18692052, 19166927, 20448150, 20946875, 21900206, 29887380, 31160551, 31413325, 32203420, 32315611, 33961781, 35044719, 35271311, 35914814
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	29599122
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	29599122
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20946875
GO:0005886	Component	Plasma membrane	IEA
GO:0005905	Component	Clathrin-coated pit	IDA	29887380
GO:0005905	Component	Clathrin-coated pit	IDA	20946875
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0008104	Process	Intracellular protein localization	IMP	29887380
GO:0010646	Process	Regulation of cell communication	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	IBA
GO:0023051	Process	Regulation of signaling	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0055037	Component	Recycling endosome	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	20946875
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0060999	Process	Positive regulation of dendritic spine development	IEA
GO:0070064	Function	Proline-rich region binding	IPI	20946875
GO:0097440	Component	Apical dendrite	IEA
GO:0097708	Component	Intracellular vesicle	IBA
GO:0097708	Component	Intracellular vesicle	IEA
GO:0098843	Component	Postsynaptic endocytic zone	IEA
GO:0098871	Component	Postsynaptic actin cytoskeleton	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0150007	Process	Clathrin-dependent synaptic vesicle endocytosis	IBA
GO:1905274	Process	Regulation of modification of postsynaptic actin cytoskeleton	IEA
GO:2001288	Process	Positive regulation of caveolin-mediated endocytosis	IEA

Other IDs

• MIM: 602442
• HGNC: 6183
• e!Ensembl: ENSG00000205726

Protein

• UniProt ID: Q15811
• Protein name: Intersectin-1 (SH3 domain-containing protein 1A) (SH3P17)
• Protein function: Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery (PubMed:11584276, PubMed:29887380). Acts as a guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleatio
• PDB: 1KI1, 2KGR, 2KHN, 3FIA, 3QBV, 4IIM, 5HZI, 5HZJ, 5HZK, 6GBU, 6H5T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12763	EF-hand_4	16 → 108	Cytoskeletal-regulatory complex EF hand	Family
  PF12763	EF-hand_4	216 → 312	Cytoskeletal-regulatory complex EF hand	Family
  PF14604	SH3_9	747 → 802	Variant SH3 domain	Domain
  PF16617	INTAP	803 → 917		Disordered
  PF00018	SH3_1	919 → 963	SH3 domain	Domain
  PF07653	SH3_2	1007 → 1057	Variant SH3 domain	Domain
  PF07653	SH3_2	1078 → 1136	Variant SH3 domain	Domain
  PF00018	SH3_1	1161 → 1206	SH3 domain	Domain
  PF00621	RhoGEF	1241 → 1421	RhoGEF domain	Domain
  PF16652	PH_13	1440 → 1593	Pleckstrin homology domain	Domain
  PF00168	C2	1596 → 1696	C2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed almost exclusively in the brain. Isoform 2 is detected in brain, spleen, lung, liver, heart, skeletal muscle and kidney. Isoform 5 is primarily expressed in brain, spleen, lung and kidney (at protein level) (PubM
• Sequence:

  MAQFPTPFGGSLDIWAITVEERAKHDQQFHSLKPISGFITGDQARNFFFQSGLPQPVLAQ
  IWALADMNNDGRMDQVEFSIAMKLIKLKLQGYQLPSALPPVMKQQPVAISSAPAFGMGGI
  ASMPPLTAVAPVPMGSIPVVGMSPTLVSSVPTAAVPPLANGAPPVIQPLPAFAHPAATLP
  KSSSFSRSGPGSQLNTKLQKAQSFDVASVPPVAEWAVPQSSRLKYRQLFNSHDKTMSGHL
  TGPQARTILMQSSLPQAQLASIWNLSDIDQDGKLTAEEFILAMHLIDVAMSGQPLPPVLP
  PEYIPPSFRRVRSGSGISVISSTSVDQRLPEEPVLEDEQQQLEKKLPVTFEDKKRENFER
  GNLELEKRRQALLEQQRKEQERLAQLERAEQERKERERQEQERKRQLELEKQLEKQRELE
  RQREEERRKEIERREAAKRELERQRQLEWERNRRQELLNQRNKEQEDIVVLKAKKKTLEF
  ELEALNDKKHQLEGKLQDIRCRLTTQRQEIESTNKSRELRIAEITHLQQQLQESQQMLGR
  LIPEKQILNDQLKQVQQNSLHRDSLVTLKRALEAKELARQHLRDQLDEVEKETRSKLQEI
  DIFNNQLKELREIHNKQQLQKQKSMEAERLKQKEQERKIIELEKQKEEAQRRAQERDKQW
  LEHVQQEDEHQRPRKLHEEEKLKREESVKKKDGEEKGKQEAQDKLGRLFHQHQEPAKPAV
  QAPWSTAEKGPLTISAQENVKVVYYRALYPFESRSHDEITIQPGDIVMVKGEWVDESQTG
  EPGWLGGELKGKTGWFPANYAEKIPENEVPAPVKPVTDSTSAPAPKLALRETPAPLAVTS
  SEPSTTPNNWADFSSTWPTSTNEKPETDNWDAWAAQPSLTVPSAGQLRQRSAFTPATATG
  SSPSPVLGQGEKVEGLQAQALYPWRAKKDNHLNFNKNDVITVLEQQDMWWFGEVQGQKGW
  FPKSYVKLISGPIRKSTSMDSGSSESPASLKRVASPAAKPVVSGEEFIAMYTYESSEQGD
  LTFQQGDVILVTKKDGDWWTGTVGDKAGVFPSNYVRLKDSEGSGTAGKTGSLGKKPEIAQ
  VIASYTATGPEQLTLAPGQLILIRKKNPGGWWEGELQARGKKRQIGWFPANYVKLLSPGT
  SKITPTEPPKSTALAAVCQVIGMYDYTAQNDDELAFNKGQIINVLNKEDPDWWKGEVNGQ
  VGLFPSNYVKLTTDMDPSQQWCSDLHLLDMLTPTERKRQGYIHELIVTEENYVNDLQLVT
  EIFQKPLMESELLTEKEVAMIFVNWKELIMCNIKLLKALRVRKKMSGEKMPVKMIGDILS
  AQLPHMQPYIRFCSRQLNGAALIQQKTDEAPDFKEFVKRLAMDPRCKGMPLSSFILKPMQ
  RVTRYPLIIKNILENTPENHPDHSHLKHALEKAEELCSQVNEGVREKENSDRLEWIQAHV
  QCEGLSEQLVFNSVTNCLGPRKFLHSGKLYKAKSNKELYGFLFNDFLLLTQITKPLGSSG
  TDKVFSPKSNLQYKMYKTPIFLNEVLVKLPTDPSGDEPIFHISHIDRVYTLRAESINERT
  AWVQKIKAASELYIETEKKKREKAYLVRSQRATGIGRLMVNVVEGIELKPCRSHGKSNPY
  CEVTMGSQCHITKTIQDTLNPKWNSNCQFFIRDLEQEVLCITVFERDQFSPDDFLGRTEI
  RVADIKKDQGSKGPVTKCLLLHEVPTGEIVVRLDLQLFDEP

• Sequence length: 1721

Pathways

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
EPHB-mediated forward signaling
G alpha (12/13) signalling events
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autistic behavior	Pathogenic	rs2517016417	RCV002287213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized-onset seizure	Likely pathogenic	rs2518153097	RCV002286485	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2518087570	RCV003123315	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia/tracheoesophageal fistula	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITSN1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITSN1-related neurodevelopmental disorders	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31647141		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34707297	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	35982159	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	34406596	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31564893		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27629044, 28874189		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35982159	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29744951		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	32547537	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34707297	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	16442855		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19037327, 21876463		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	38095646	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34707297	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	28682143	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25832561		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25832561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	20493827, 25832561, 31160551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	36171198	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	24458657		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23893408, 28068512, 28874189		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32547537	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24458657		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34707297	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31647141		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	31647141	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	27629044		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31564893		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27629044, 28874189		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24458657		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22266851, 25622909, 28787396		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22266851, 25622909, 28787396		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21876463		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	31880027	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	24458657		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28874189		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31497189		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30803045	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30803045		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	19863549		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	34406596	Associate	★☆☆☆☆ Found in Text Mining only