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RUSC2 - RUN and SH3 domain containing 2 Gene

Also Known as MRT61; Iporin

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9853

About RUSC2

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,490,111-35,561,895 (from NCBI)

This gene has 3 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 15.6), testis (RPKM 11.8) and 25 other tissues.

Summary

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

RUSC2 Products (3)

mRNA	Protein	Name
NM_001135999.2	NP_001129471.2	AP-4 complex accessory subunit RUSC2 isoform 1
NM_001330740.2	NP_001317669.1	AP-4 complex accessory subunit RUSC2 isoform 2
NM_014806.5	NP_055621.2	AP-4 complex accessory subunit RUSC2 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15796781	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	15796781	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	15796781	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RUSC2 Protein Structure

RUN

SH3_2

0
300
600
900
1200
1516 a.a.

Protein Preferred Names	Protein Names
AP-4 complex accessory subunit RUSC2	RUN and SH3 domain-containing protein 2

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Recessive 61	Mental Retardation, Autosomal Recessive 61 Alwadei Syndrome MRT61 Autosomal Recessive Intellectual Developmental Disorder 61 Autosomal Recessive Intellectual Developmental Disorder-61 Autosomal Recessive Mental Retardation 61
Spastic Paraplegia 50, Autosomal Recessive	Hereditary Spastic Paraplegia 50 SPG50 Ap-4 Deficiency Syndrome Ap-4-Associated Hereditary Spastic Paraplegia Adaptor Protein Complex 4 Deficiency Cerebral Palsy, Spastic Quadriplegic, 3, Formerly Cpsq3, Formerly Autosomal Recessive Spastic Paraplegia 50 Cpsq3 Spastic Quadriplegic Cerebral Palsy 3 Ap-4 Deficiency Ap-4-Associated Hsp Paraplegia, Spastic, Autosomal Recessive, Type 50 Spastic Paraplegia-50, Autosomal Recessive
Aicardi Syndrome	AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Agenesis Of Corpus Callosum With Chorioretinal Abnormality Aicardi'S Syndrome Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities Callosal Agenesis And Ocular Abnormalities Chorioretinal Anomalies With Acc
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12353	RUSC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RUSC2	MGD	MGI:2140371
Rattus norvegicus	RUSC2	RGD	RGD:1592688
Bos taurus	RUSC2	VGNC	VGNC:34222
Macaca mulatta	RUSC2	VGNC	VGNC:82230
Felis catus	RUSC2	VGNC	VGNC:64824
Canis familiaris	RUSC2	VGNC	VGNC:45810
Others	RUSC2	NCBI