Itsn2 MGI Mouse Gene Detail - MGI:1338049

Symbol

Itsn2
Name

intersectin 2
Synonyms

Eh domain, SH3 domain regulator of endocytosis 2, Ese2, mKIAA1256, Sh3d1B, Sh3p18

Feature Type

protein coding gene
IDs

MGI:1338049
NCBI Gene: 20403
Alliance

gene page
Transcription Start Sites

22 TSS

Sequence Map

Chr12:4642792-4763952 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 2.09 cM, cytoband A1.1
Mapping Data

3 experiments

SNPs within 2kb

922 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1338049	protein coding gene	Chr12:4642638-4763962 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019569	protein coding gene	Chr12:1488534-1612178 (+)
A/J	MGP_AJ_G0019536	protein coding gene	Chr12:1481527-1599684 (+)
AKR/J	MGP_AKRJ_G0019506	protein coding gene	Chr12:1653727-1776502 (+)
BALB/cJ	MGP_BALBcJ_G0019511	protein coding gene	Chr12:1513449-1635758 (+)
C3H/HeJ	MGP_C3HHeJ_G0019317	protein coding gene	Chr12:1441228-1565287 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019960	protein coding gene	Chr12:1519941-1649006 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017585	protein coding gene	Chr12:1394143-1513999 (+)
CAST/EiJ	MGP_CASTEiJ_G0018872	protein coding gene	Chr12:1527212-1649656 (+)
CBA/J	MGP_CBAJ_G0019288	protein coding gene	Chr12:1836549-1977655 (+)
DBA/2J	MGP_DBA2J_G0019401	protein coding gene	Chr12:1418212-1535575 (+)
FVB/NJ	MGP_FVBNJ_G0019392	protein coding gene	Chr12:1436196-1550290 (+)
LP/J	MGP_LPJ_G0019472	protein coding gene	Chr12:1506770-1640147 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019425	protein coding gene	Chr12:1588183-1720337 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019999	protein coding gene	Chr12:1459188-1582307 (+)
PWK/PhJ	MGP_PWKPhJ_G0018638	protein coding gene	Chr12:1472442-1592521 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018429	protein coding gene	Chr12:1502968-1634113 (+)
WSB/EiJ	MGP_WSBEiJ_G0018923	protein coding gene	Chr12:1478263-1597139 (+)

Human Ortholog

ITSN2, intersectin 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ITSN2, intersectin 2
Synonyms

PRO2015, SH3D1B, SH3P18, SWA, SWAP
Links

HGNC:6184

NCBI Gene ID: 50618

neXtProt AC: NX_Q9NZM3

UniProt: Q9NZM3
Chr Location

2p23.3; chr2:24202864-24361368 (-) GRCh38

MGI Vertebrate Homology

Itsn2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ITSN2
Gene Tree

Itsn2

Diseases

1 with Itsn2 mouse models

Human Disease

Mouse Models

nephrotic syndrome

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

9 phenotypes from 3 alleles in 3 genetic backgrounds
6 phenotypes from multigenic genotypes
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Endonuclease-mediated

1
Gene trapped

10
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

91 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. Mice lacking the long isoform exhibit delayed recovery from LPS-induced kidney injury.

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All GO Annotations

14
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

782
Tissues

51
cDNA Data

130
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ITSN2

Xenbase itsn2

ZFIN itsn2b

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All Sequences

102
RefSeq

23
UniProt

9
CCDS

CCDS36398.1, CCDS88305.1

Ensembl

ENSMUSG00000020640 (Evidence)
NCBI Gene

20403

			Length	Strain/Species	Flank
genomic	20403	NCBI Gene Model \| MGI Sequence Detail	121161	C57BL/6J	± kb
transcript	NM_001198968	RefSeq \| MGI Sequence Detail	6082	C57BL/6
polypeptide	Q9Z0R6	UniProt \| EBI \| MGI Sequence Detail	1659	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000009165 intersectin-2

(term hierarchy)
InterPro Domains

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR000261 EH domain

IPR035741 Intersectin-2, fifth SH3 domain

IPR035737 Intersectin-2, first SH3 domain

IPR035740 Intersectin-2, fourth SH3 domain

IPR035738 Intersectin-2, second SH3 domain

IPR035739 Intersectin-2, third SH3 domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

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All nucleic 131

cDNA 131

Microarray probesets 9

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MGI:2144799

Summaries

All 55

Developmental Gene Expression 6

Diseases 1

Gene Ontology 6

Phenotypes 16
Earliest

J:53505 Sengar AS, et al., The EH and SH3 domain Ese proteins regulate endocytosis by linking to dynamin and Eps15. EMBO J. 1999 Mar 1;18(5):1159-71
Latest

J:345707 Vollweiter D, et al., Intersectin deficiency impairs cortico-striatal neurotransmission and causes obsessive-compulsive behaviors in mice. Proc Natl Acad Sci U S A. 2023 Aug 29;120(35):e2304323120

TSS for Itsn2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112557	Chr12:4642629-4642648 (+)	-153 bp
Tssr112558	Chr12:4642650-4642673 (+)	-130 bp
Tssr112559	Chr12:4642793-4642836 (+)	23 bp
Tssr112560	Chr12:4642900-4642945 (+)	131 bp
Tssr112561	Chr12:4642992-4643087 (+)	248 bp
Tssr112562	Chr12:4643136-4643147 (+)	350 bp
Tssr3767	Chr12:4643798-4643832 (+)	1,023 bp
Tssr112563	Chr12:4643860-4643864 (+)	1,070 bp
Tssr112564	Chr12:4648891-4648930 (+)	6,119 bp
Tssr112565	Chr12:4649744-4649774 (+)	6,967 bp
Tssr112566	Chr12:4650240-4650246 (+)	7,451 bp
Tssr112567	Chr12:4650662-4650664 (+)	7,871 bp
Tssr112568	Chr12:4651975-4651978 (+)	9,185 bp
Tssr112569	Chr12:4674894-4674916 (+)	32,113 bp
Tssr112570	Chr12:4679903-4679921 (+)	37,120 bp
Tssr112571	Chr12:4683477-4683495 (+)	40,694 bp
Tssr112572	Chr12:4684620-4684643 (+)	41,840 bp
Tssr112573	Chr12:4685589-4685610 (+)	42,808 bp
Tssr112574	Chr12:4685613-4685629 (+)	42,829 bp
Tssr112575	Chr12:4753231-4753235 (+)	110,441 bp
Tssr112576	Chr12:4762336-4762343 (+)	119,548 bp
Tssr112577	Chr12:4762355-4762377 (+)	119,574 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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