Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
1
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604464 6184 ENSG00000198399
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
EIWALSDLNKDGKMDQQEFSIAMKLIKLKLQGQQLPVVLPPIMKQP
PMFSPLISARFGMG
SMPNLSIPQPLPPAAPITSLSSATSGTNLPPLMMPTPLVPSVSTSSLPNGTASLIQPLPI
PYSSSTLPHGSSYSLMMGGFGGASIQKAQSLIDLGSSSSTSSTASLSGNSPKTGTSEWAV
PQPTRLKYRQKFNTLDKSMSGYLSGFQARNALLQSNLSQTQLATIWTLADVDGDGQLKAE
EFILAMHLTDMAKAGQPLPLTLPPELVPPSFRG
GKQIDSINGTLPSYQKMQEEEPQKKLP
VTFEDKRKANYERGNMELEKRRQALMEQQQREAERKAQKEKEEWERKQRELQEQEWKKQL
ELEKRLEKQRELERQREEERRKDIERREAAKQELERQRRLEWERIRRQELLNQKNREQEE
IVRLNSKKKNLHLELEALNGKHQQISGRLQDVRLKKQTQKTELEVLDKQCDLEIMEIKQL
QQELQEYQNKLIYLVPEKQLLNERIKNMQFSNTPDSGVSLLHKKSLEKEELCQRLKEQLD
ALEKETASKLSEMDSFNNQLKCGNMDDSVLQCLLSLLSCLNNLFLLLKELRETYNTQQLA
LEQLYKIKRDKLKEIERKRLELMQKKKLEDEAARKAKQGKENLWKENLRKEEEEKQKRLQ
EEKTQEKIQEEERKAEEKQRKDKDTLKAEEKKRETASVLVNYRALYPFEARNHDEMSFNS
GDIIQVDEKTVGEPGWLYGSFQGNFGWFPCNYVE
KMPSSENEKAVSPKKALLPPTVSLSA
TSTSSEPLSSNQPASVTDYQNVSFSNLTVNTSWQKKSAFTRTVSPGSVSPIHGQGQVVEN
LKAQALCSWTAKKDNHLNFSKHDIITVLEQQENWWFGEVHGGRGWFPKSYVKIIPGSEVK
REEPEALYAAVNKKPTSAAYSVGEEYIALYPYSSVEPGDLTFTEGEEILVTQKDGEWWTG
SIGDRSGIFPS
NYVKPKDQESFGSASKSGASNKKPEIAQVTSAYVASGSEQLSLAPGQLI
LILKKNTSGWWQGELQARGKKRQKGWFPA
SHVKLLGPSSERATPAFHPVCQVIAMYDYAA
NNEDELSFSKGQLINVMNKDDPDWWQGEINGVTGLFPSNYVK
MTTDSDPSQQWCADLQTL
DTMQPIERKRQGYIHELIQTEERYMADLQLVVEVFQKRMAESGFLTEGEMALIFVNWKEL
IMSNTKLLKALRVRKKTGGEKMPVQMIGDILAAELSHMQAYIRFCSCQLNGAALLQQKTD
EDTDFKEFLKKLASDPRCKGMPLSSFLLKPMQRITRYPLLIRSILENTPESHADHSSLKL
ALERAEELCSQVN
EGVREKENSDRLEWIQAHVQCEGLAEQLIFNSLTNCLGPRKLLHSGK
LYKTKSNKELHGFLFNDFLLLTYMVKQFAVSSGSEKLFSSKSNAQFKMYKTPIFLNEVLV
KLPTDPSSDEPVFHISHIDRVYTLRTDNINERTAWVQKIKAASEQYIDTEKKKREKAYQA
RSQKTS
GIGRLMVHVIEATELKACKPNGKSNPYCEISMGSQSYTTRTIQDTLNPKWNFNC
QFFIKDLYQDVLCLTLFDRDQFSPDDFLGRTEIPVAKIRTEQESKGPMTR
RLLLHEVPTG
EVWVRFDLQLFEQKTLL
Sequence length 1697
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 33953791 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 29273806
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune disease Pubtator 34406596 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 28625231
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 18925433
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 32547537 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 28316575
★☆☆☆☆
Found in Text Mining only
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 32547537 Associate
★☆☆☆☆
Found in Text Mining only