ITSN2 - intersectin 2 Gene

Homo sapiens

Also known as SWA; SWAP; SH3D1B; SH3P18; PRO2015

Gene ID: 50618 | Gene type: protein coding

About ITSN2

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:24,202,864-24,361,368 (from NCBI)

This gene has 12 transcripts (splice variants), 293 orthologues and 10 paralogues. Ubiquitous expression in thyroid (RPKM 16.9), lymph node (RPKM 13.9) and 25 other tissues.

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 function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]

ITSN2 Products(9)

mRNA	Protein	Name
NM_001348181.2	NP_001335110.1	intersectin-2 isoform 4
NM_001348182.2	NP_001335111.1	intersectin-2 isoform 5
NM_001348183.2	NP_001335112.1	intersectin-2 isoform 6
NM_001348184.2	NP_001335113.1	intersectin-2 isoform 7
NM_001348185.2	NP_001335114.1	intersectin-2 isoform 8
NM_001348186.2	NP_001335115.1	intersectin-2 isoform 9
NM_006277.3	NP_006268.2	intersectin-2 isoform 1
NM_019595.4	NP_062541.3	intersectin-2 isoform 3
NM_147152.3	NP_671494.2	intersectin-2 isoform 2

ITSN2 Protein Structure

EF-hand_4

SH3_9

SH3_2

SH3_1

SH3_9

RhoGEF

0
300
600
900
1200
1500
1697 a.a.

Protein Preferred Names

Protein Names

intersectin-2

SH3 domain-containing protein 1B

Related Diseases

Diseases

Alias

Nephrotic Syndrome, Type 22

NPHS22	Nephrotic Syndrome Type 22
Nephrotic Syndrome 22

Chromosome 17q12 Deletion Syndrome

17q12 Microdeletion Syndrome	Del(17)(Q12)
Monosomy 17q12

Nephrotic Syndrome, Type 21

NPHS21	Nephrotic Syndrome Type 21
Nephrotic Syndrome 21

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06998	ITSN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ITSN2	VGNC	VGNC:67873
Bos taurus	ITSN2	VGNC	VGNC:30353
Macaca mulatta	ITSN2	VGNC	VGNC:73807
Rattus norvegicus	ITSN2	RGD	RGD:1590890
Mus musculus	ITSN2	MGD	MGI:1338049
Canis familiaris	ITSN2	VGNC	VGNC:42162

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