1. Gene
  2. RUSC2 - RUN and SH3 domain containing 2 Gene

RUSC2 - RUN and SH3 domain containing 2 Gene

Homo sapiens

Also known as MRT61; Iporin

Gene ID: 9853 | Gene type: protein coding

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 Reference 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 Reference 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

RUN: RUN domain (1040 - 1172)

SH3_2

SH3_2: Variant SH3 domain (1452 - 1501)

  • 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

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