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	50618
Gene name	Intersectin 2
Gene symbol	ITSN2
Synonyms (NCBI Gene)	PRO2015SH3D1BSH3P18SWASWAP
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may fun

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1553340826	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant

154

Show/Hide all (154)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019375	hsa-miR-148b-3p	Microarray	17612493
MIRT022783	hsa-miR-124-3p	Microarray	18668037
MIRT030879	hsa-miR-21-5p	Microarray	18591254
MIRT045590	hsa-miR-149-5p	CLASH	23622248
MIRT044995	hsa-miR-186-5p	CLASH	23622248
MIRT036170	hsa-miR-320c	CLASH	23622248
MIRT475079	hsa-miR-144-3p	PAR-CLIP	24398324
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT475075	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	24398324
MIRT475072	hsa-miR-126-5p	PAR-CLIP	24398324
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	24398324
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	24398324
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	26701625
MIRT475072	hsa-miR-126-5p	PAR-CLIP	26701625
MIRT475075	hsa-miR-128-3p	PAR-CLIP	26701625
MIRT475075	hsa-miR-128-3p	PAR-CLIP	26701625
MIRT475079	hsa-miR-144-3p	PAR-CLIP	26701625
MIRT475079	hsa-miR-144-3p	PAR-CLIP	26701625
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	26701625
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	26701625
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	26701625
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	26701625
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	26701625
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	26701625
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	26701625
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	26701625
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	26701625
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	26701625
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	26701625
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	26701625
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	26701625
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	26701625
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	26701625
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	26701625
MIRT475079	hsa-miR-144-3p	PAR-CLIP	24398324
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT475075	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	24398324
MIRT475072	hsa-miR-126-5p	PAR-CLIP	24398324
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	24398324
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	24398324
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT1075484	hsa-miR-200b	CLIP-seq
MIRT1075485	hsa-miR-200c	CLIP-seq
MIRT1075486	hsa-miR-3691-3p	CLIP-seq
MIRT1075487	hsa-miR-429	CLIP-seq
MIRT1075488	hsa-miR-1260	CLIP-seq
MIRT1075489	hsa-miR-1260b	CLIP-seq
MIRT1075490	hsa-miR-128	CLIP-seq
MIRT1075491	hsa-miR-144	CLIP-seq
MIRT1075492	hsa-miR-148a	CLIP-seq
MIRT1075493	hsa-miR-148b	CLIP-seq
MIRT1075494	hsa-miR-152	CLIP-seq
MIRT1075495	hsa-miR-188-3p	CLIP-seq
MIRT1075496	hsa-miR-27a	CLIP-seq
MIRT1075497	hsa-miR-27b	CLIP-seq
MIRT1075498	hsa-miR-3156-3p	CLIP-seq
MIRT1075499	hsa-miR-3686	CLIP-seq
MIRT1075500	hsa-miR-3692	CLIP-seq
MIRT1075501	hsa-miR-411	CLIP-seq
MIRT1075502	hsa-miR-4276	CLIP-seq
MIRT1075503	hsa-miR-4301	CLIP-seq
MIRT1075504	hsa-miR-4652-3p	CLIP-seq
MIRT1075505	hsa-miR-4667-3p	CLIP-seq
MIRT1075506	hsa-miR-4725-5p	CLIP-seq
MIRT1075507	hsa-miR-4753-3p	CLIP-seq
MIRT1075508	hsa-miR-4793-5p	CLIP-seq
MIRT1075509	hsa-miR-504	CLIP-seq
MIRT1075510	hsa-miR-511	CLIP-seq
MIRT1075511	hsa-miR-654-3p	CLIP-seq
MIRT1075512	hsa-miR-1303	CLIP-seq
MIRT1075513	hsa-miR-216a	CLIP-seq
MIRT1075514	hsa-miR-513c	CLIP-seq
MIRT1075515	hsa-miR-514b-5p	CLIP-seq
MIRT2554138	hsa-miR-1	CLIP-seq
MIRT2554139	hsa-miR-206	CLIP-seq
MIRT2554140	hsa-miR-2467-3p	CLIP-seq
MIRT2554141	hsa-miR-3673	CLIP-seq
MIRT2554142	hsa-miR-409-5p	CLIP-seq
MIRT2554143	hsa-miR-4257	CLIP-seq
MIRT2554144	hsa-miR-4530	CLIP-seq
MIRT2554145	hsa-miR-4790-3p	CLIP-seq
MIRT2554146	hsa-miR-613	CLIP-seq
MIRT2554147	hsa-miR-922	CLIP-seq
MIRT2554138	hsa-miR-1	CLIP-seq
MIRT2683063	hsa-miR-181a	CLIP-seq
MIRT2683064	hsa-miR-181b	CLIP-seq
MIRT2683065	hsa-miR-181c	CLIP-seq
MIRT2683066	hsa-miR-181d	CLIP-seq
MIRT2554139	hsa-miR-206	CLIP-seq
MIRT2554140	hsa-miR-2467-3p	CLIP-seq
MIRT2683067	hsa-miR-3138	CLIP-seq
MIRT2554141	hsa-miR-3673	CLIP-seq
MIRT2554142	hsa-miR-409-5p	CLIP-seq
MIRT2554143	hsa-miR-4257	CLIP-seq
MIRT2683068	hsa-miR-4262	CLIP-seq
MIRT2683069	hsa-miR-4272	CLIP-seq
MIRT2554144	hsa-miR-4530	CLIP-seq
MIRT2554145	hsa-miR-4790-3p	CLIP-seq
MIRT2554146	hsa-miR-613	CLIP-seq
MIRT2683070	hsa-miR-642b	CLIP-seq
MIRT2554147	hsa-miR-922	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17696407, 24658140, 31980649, 33961781, 35271311, 35384245
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20479469
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006897	Process	Endocytosis	IEA
GO:0016197	Process	Endosomal transport	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097708	Component	Intracellular vesicle	IBA
GO:0150007	Process	Clathrin-dependent synaptic vesicle endocytosis	IBA
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003

MIM	HGNC	e!Ensembl
604464	6184	ENSG00000198399

Q9NZM3

Protein name

Intersectin-2 (SH3 domain-containing protein 1B) (SH3P18) (SH3P18-like WASP-associated protein)

Protein function

Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination

PDB

1J3T , 1UDL , 1UE9 , 1UFF , 1UHF , 3GF9 , 3JZY , 4IIO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12763	EF-hand_4	15 → 106	Cytoskeletal-regulatory complex EF hand	Family
PF12763	EF-hand_4	241 → 333	Cytoskeletal-regulatory complex EF hand	Family
PF14604	SH3_9	764 → 814	Variant SH3 domain	Domain
PF07653	SH3_2	902 → 954	Variant SH3 domain	Domain
PF00018	SH3_1	987 → 1031	SH3 domain	Domain
PF00018	SH3_1	1059 → 1109	SH3 domain	Domain
PF14604	SH3_9	1134 → 1182	Variant SH3 domain	Domain
PF00621	RhoGEF	1213 → 1393	RhoGEF domain	Domain
PF16652	PH_13	1412 → 1566	Pleckstrin homology domain	Domain
PF00168	C2	1569 → 1670	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). Ubiquitous. Isoform 1 is primarily expressed in adult heart and liver. {ECO:0000269|PubMed:23999003}.

Sequence

MMAQFPTAMNGGPNMWAITSEERTKHDRQFDNLKPSGGYITGDQARNFFLQSGLPAPVLA
EIWALSDLNKDGKMDQQEFSIAMKLIKLKLQGQQLPVVLPPIMKQPPMFSPLISARFGMG
SMPNLSIPQPLPPAAPITSLSSATSGTNLPPLMMPTPLVPSVSTSSLPNGTASLIQPLPI
PYSSSTLPHGSSYSLMMGGFGGASIQKAQSLIDLGSSSSTSSTASLSGNSPKTGTSEWAV
PQPTRLKYRQKFNTLDKSMSGYLSGFQARNALLQSNLSQTQLATIWTLADVDGDGQLKAE
EFILAMHLTDMAKAGQPLPLTLPPELVPPSFRGGKQIDSINGTLPSYQKMQEEEPQKKLP
VTFEDKRKANYERGNMELEKRRQALMEQQQREAERKAQKEKEEWERKQRELQEQEWKKQL
ELEKRLEKQRELERQREEERRKDIERREAAKQELERQRRLEWERIRRQELLNQKNREQEE
IVRLNSKKKNLHLELEALNGKHQQISGRLQDVRLKKQTQKTELEVLDKQCDLEIMEIKQL
QQELQEYQNKLIYLVPEKQLLNERIKNMQFSNTPDSGVSLLHKKSLEKEELCQRLKEQLD
ALEKETASKLSEMDSFNNQLKCGNMDDSVLQCLLSLLSCLNNLFLLLKELRETYNTQQLA
LEQLYKIKRDKLKEIERKRLELMQKKKLEDEAARKAKQGKENLWKENLRKEEEEKQKRLQ
EEKTQEKIQEEERKAEEKQRKDKDTLKAEEKKRETASVLVNYRALYPFEARNHDEMSFNS
GDIIQVDEKTVGEPGWLYGSFQGNFGWFPCNYVEKMPSSENEKAVSPKKALLPPTVSLSA
TSTSSEPLSSNQPASVTDYQNVSFSNLTVNTSWQKKSAFTRTVSPGSVSPIHGQGQVVEN
LKAQALCSWTAKKDNHLNFSKHDIITVLEQQENWWFGEVHGGRGWFPKSYVKIIPGSEVK
REEPEALYAAVNKKPTSAAYSVGEEYIALYPYSSVEPGDLTFTEGEEILVTQKDGEWWTG
SIGDRSGIFPSNYVKPKDQESFGSASKSGASNKKPEIAQVTSAYVASGSEQLSLAPGQLI
LILKKNTSGWWQGELQARGKKRQKGWFPASHVKLLGPSSERATPAFHPVCQVIAMYDYAA
NNEDELSFSKGQLINVMNKDDPDWWQGEINGVTGLFPSNYVKMTTDSDPSQQWCADLQTL
DTMQPIERKRQGYIHELIQTEERYMADLQLVVEVFQKRMAESGFLTEGEMALIFVNWKEL
IMSNTKLLKALRVRKKTGGEKMPVQMIGDILAAELSHMQAYIRFCSCQLNGAALLQQKTD
EDTDFKEFLKKLASDPRCKGMPLSSFLLKPMQRITRYPLLIRSILENTPESHADHSSLKL
ALERAEELCSQVNEGVREKENSDRLEWIQAHVQCEGLAEQLIFNSLTNCLGPRKLLHSGK
LYKTKSNKELHGFLFNDFLLLTYMVKQFAVSSGSEKLFSSKSNAQFKMYKTPIFLNEVLV
KLPTDPSSDEPVFHISHIDRVYTLRTDNINERTAWVQKIKAASEQYIDTEKKKREKAYQA
RSQKTSGIGRLMVHVIEATELKACKPNGKSNPYCEISMGSQSYTTRTIQDTLNPKWNFNC
QFFIKDLYQDVLCLTLFDRDQFSPDDFLGRTEIPVAKIRTEQESKGPMTRRLLLHEVPTG
EVWVRFDLQLFEQKTLL

Sequence length

1697

Interactions

View interactions

	Reactome
			Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance; Likely benign	rs746720955, rs147424111	RCV005930536 RCV005928792
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs147424111	RCV005928795
Colorectal cancer	Likely benign	rs147424111	RCV005928793
Familial cancer of breast	Benign	rs4450560	RCV005920130
Familial pancreatic carcinoma	Benign; Likely benign	rs41281485	RCV005928757
Gastric cancer	Benign; Likely benign	rs41281485	RCV005928758
ITSN2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs138517130, rs2303291, rs2303296, rs41281487, rs41281485, rs747412792, rs76543468, rs77507357, rs61754186, rs147424111, rs143879838, rs61757119, rs79060892, rs6744320, rs144159139 View all (55 more)	RCV003908882 RCV003980835 RCV003956304 RCV003926656 RCV003916573 RCV003973509 RCV003936338 RCV003936339 RCV003916578 RCV004750784 RCV003943592 RCV003973535 RCV003963441 RCV003926535 RCV003926597 RCV003916694 RCV003410199 RCV003954034 RCV003919027 RCV003412044 RCV003416904 RCV003417155 RCV003420870 RCV003429069 RCV003397614 RCV003410810 RCV003427779 RCV003404560 RCV003402667 RCV003418839 RCV003919261 RCV003919260 RCV003939088 RCV003966514 RCV003909076 RCV003939246 RCV003896865 RCV003907105 RCV003921704 RCV003929594 RCV003894351 RCV003897422 RCV003904648 RCV003904680 RCV003964557 RCV003982560 RCV003901520 RCV003899861 RCV003901999 RCV003911939 RCV003967271 RCV003901370 RCV003913903 RCV003959590 RCV003959754 RCV003954894 RCV003919510 RCV003931433 RCV003934481 RCV003961402 RCV003914552 RCV003956910 RCV003934664 RCV003982032 RCV003983641 RCV003959434 RCV003967048 RCV003976265 RCV003930707 RCV003902947
Landau-Kleffner syndrome	Uncertain significance	rs1553340826	RCV000625853
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs41281485	RCV005928756
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs41281485, rs147424111	RCV005928759 RCV005928794
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs41281485	RCV005928760

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	33953791
Autoimmune Diseases	Associate	34406596
Crohn Disease	Associate	32547537
Fibrosarcoma	Associate	11156619
Inflammation	Associate	30803045, 31647141, 34406596
Inflammatory Bowel Diseases	Associate	32547537
Ischemic Stroke	Stimulate	31647141
Multiple Organ Failure	Associate	31880027
Pancreatitis	Associate	31880027
Prader Willi Syndrome	Associate	11156619
Sepsis	Associate	30803045
Severe Acute Respiratory Syndrome	Stimulate	31880027
Sjogren's Syndrome	Associate	24097067
Spondylitis Ankylosing	Associate	34406596

ITSN2 (intersectin 2)