Rusc2 MGI Mouse Gene Detail - MGI:2140371 - RUN and SH3 domain containing 2

Symbol

Rusc2
Name

RUN and SH3 domain containing 2
Synonyms

mKIAA0375

Feature Type

protein coding gene
IDs

MGI:2140371
NCBI Gene: 100213
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr4:43381979-43427088 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 23.03 cM
Mapping Data

1 experiment

SNPs within 2kb

918 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2140371	protein coding gene	Chr4:43377202-43427092 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028203	protein coding gene	Chr4:41484975-41535949 (+)
A/J	MGP_AJ_G0028159	protein coding gene	Chr4:40020167-40064739 (+)
AKR/J	MGP_AKRJ_G0028111	protein coding gene	Chr4:40933486-40978656 (+)
BALB/cJ	MGP_BALBcJ_G0028179	protein coding gene	Chr4:40109975-40155223 (+)
C3H/HeJ	MGP_C3HHeJ_G0027901	protein coding gene	Chr4:41554314-41601096 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028620	protein coding gene	Chr4:43022606-43069903 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025932	protein coding gene	Chr4:37471802-37518261 (+)
CAST/EiJ	MGP_CASTEiJ_G0027341	protein coding gene	Chr4:41060699-41107646 (+)
CBA/J	MGP_CBAJ_G0027867	protein coding gene	Chr4:44358944-44404082 (+)
DBA/2J	MGP_DBA2J_G0028016	protein coding gene	Chr4:39930079-39975243 (+)
FVB/NJ	MGP_FVBNJ_G0027983	protein coding gene	Chr4:39148657-39194569 (+)
LP/J	MGP_LPJ_G0028115	protein coding gene	Chr4:41547030-41593607 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028007	protein coding gene	Chr4:47619455-47666720 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028656	protein coding gene	Chr4:41123706-41168803 (+)
PWK/PhJ	MGP_PWKPhJ_G0027067	protein coding gene	Chr4:39967497-40021676 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026893	protein coding gene	Chr4:40689564-40735511 (+)
WSB/EiJ	MGP_WSBEiJ_G0027421	protein coding gene	Chr4:41027817-41074479 (+)

Human Ortholog

RUSC2, RUN and SH3 domain containing 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RUSC2, RUN and SH3 domain containing 2
Synonyms

Iporin, MRT61
Links

HGNC:23625

NCBI Gene ID: 9853

neXtProt AC: NX_Q8N2Y8

UniProt: Q8N2Y8
Chr Location

9p13.3; chr9:35490111-35561898 (+) GRCh38

MGI Vertebrate Homology

Rusc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RUSC2
Gene Tree

Rusc2

Diseases

1 with human RUSC2 associations

				Human Disease	Mouse Models
				autosomal recessive intellectual developmental disorder 61 IDs autosomal recessive intellectual developmental disorder 61 DOID:0080239 OMIM:617773

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
9 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

25
Chemically and radiation induced

1
Endonuclease-mediated

2
Gene trapped

19
Targeted

3
Genomic Mutations

1 involving Rusc2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

77 strains or lines available

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All GO Annotations

4
GO References

3

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

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

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

706
cDNA Data

103

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rusc2

ZFIN rusc2

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All Sequences

101
RefSeq

24
UniProt

14
CCDS

CCDS18092.1, CCDS89734.1

Ensembl

ENSMUSG00000035969 (Evidence)
NCBI Gene

100213

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035969	Ensembl Gene Model \| MGI Sequence Detail	45110	C57BL/6J	± kb
transcript	ENSMUST00000035645	Ensembl \| MGI Sequence Detail	5300	Not Applicable
polypeptide	ENSMUSP00000038379	Ensembl \| MGI Sequence Detail	1523	Not Applicable

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UniProt

14 Sequences
Protein Ontology

PR:000014367 AP-4 complex accessory subunit RUSC2

(term hierarchy)
InterPro Domains

IPR047343 AP-4 complex accessory subunit RUSC1/2

IPR047342 AP-4 complex accessory subunit RUSC2, RUN domain

IPR004012 RUN domain

IPR037213 RUN domain superfamily

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

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All nucleic 103

cDNA 103

Microarray probesets 4

Summaries

All 35

Gene Ontology 3

Phenotypes 9
Earliest

J:83413 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Feb 28;10(1):35-48
Latest

J:237787 Liu X, et al., Decreased expression levels of Ifi genes is associated to the increased resistance to spontaneous arthritis disease in mice deficiency of IL-1RA. BMC Immunol. 2016 Aug 02;17(1):25

TSS for Rusc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr36933	Chr4:43382034-43382084 (+)	80 bp
Tssr36934	Chr4:43382094-43382138 (+)	137 bp
Tssr36935	Chr4:43383117-43383121 (+)	1,140 bp
Tssr36936	Chr4:43383417-43383428 (+)	1,444 bp
Tssr36937	Chr4:43383451-43383515 (+)	1,504 bp
Tssr36938	Chr4:43383518-43383528 (+)	1,544 bp
Tssr36939	Chr4:43384240-43384249 (+)	2,266 bp
Tssr36940	Chr4:43384273-43384286 (+)	2,301 bp
Tssr36941	Chr4:43384338-43384350 (+)	2,365 bp
Tssr36942	Chr4:43392103-43392110 (+)	10,128 bp
Tssr36943	Chr4:43394953-43394958 (+)	12,977 bp
Tssr36944	Chr4:43401232-43401293 (+)	19,284 bp
Tssr36945	Chr4:43406266-43406277 (+)	24,293 bp
Tssr36946	Chr4:43406490-43406615 (+)	24,574 bp
Tssr36947	Chr4:43414721-43414733 (+)	32,748 bp
Tssr36948	Chr4:43416149-43416174 (+)	34,183 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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