RUSC2 RUN and SH3 domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RUSC2provided by HGNC
Official Full Name: RUN and SH3 domain containing 2provided by HGNC
Primary source: HGNC:HGNC:23625
See related: Ensembl:ENSG00000198853 MIM:611053; AllianceGenome:HGNC:23625
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRT61; Iporin
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]
Expression: Ubiquitous expression in brain (RPKM 15.6), testis (RPKM 11.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35490111..35561895)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35509258..35582568)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35490108..35561892)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery.
Title: RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery.
Crystal structure of the FYCO1 RUN domain suggests possible interfaces with small GTPases.
Title: Crystal structure of the FYCO1 RUN domain suggests possible interfaces with small GTPases.
RUSC2 and EHD1 function in a common pathway to positively regulate the basal traffic of Epidermal growth factor receptor from the Golgi compartment to the cell surface to ensure optimal surface receptor levels for subsequent ligand-mediated activation and cellular responses.
Title: EHD1 and RUSC2 Control Basal Epidermal Growth Factor Receptor Cell Surface Expression and Recycling.
analysis of structural basis for effector recognition in Rab35/ACAP2 and Rab35/RUSC2 complexes
Title: Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase.
Circ_RUSC2 upregulates the expression of miR-661 target gene SYK and regulates the function of vascular smooth muscle cells
Title: Circ_RUSC2 upregulates the expression of miR-661 target gene SYK and regulates the function of vascular smooth muscle cells.
AP-4 deficiency causes missorting of ATG9A in diverse cell types, including patient-derived cells, as well as dysregulation of autophagy.
Title: AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.
Short-term EGF stimulation if of lung tumor cells can increase the interaction between RUSC2 and GIT2, prolonged stimulation leads to a decrease of their interaction through activating Rab35.
Title: EGF-stimulated activation of Rab35 regulates RUSC2-GIT2 complex formation to stabilize GIT2 during directional lung cancer cell migration.
three patients with inherited homozygous nonsense mutations identified in RUSC2 on whole-exome sequencing. All three patients had central hypotonia, microcephaly, and moderate to severe intellectual disability
Title: Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.
conclude that Iporin might function as a link between the targeting of ER derived vesicles, triggered by the rab1 GTPase and a signaling pathway regulated by molecules containing SH3 and/or poly-proline regions
Title: Identification and characterization of Iporin as a novel interaction partner for rab1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability, autosomal recessive 61 MedGen: C4540424 OMIM: 617773 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of RUN and SH3 domain containing 2 (RUSC2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14686 (e-PCR)
- UniSTS:5430

HSC03D022 (e-PCR)
- UniSTS:52038

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: AP-4 complex accessory subunit RUSC2

Names: RUN and SH3 domain-containing protein 2; interacting protein of Rab1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001135999.2 → NP_001129471.2 AP-4 complex accessory subunit RUSC2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AL133476

Consensus CDS

CCDS35008.1

UniProtKB/Swiss-Prot

A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8

Related

ENSP00000393922.1, ENST00000455600.1
NM_001330740.2 → NP_001317669.1 AP-4 complex accessory subunit RUSC2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a large portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AL133476

Conserved Domains (2) summary

cd11957
Location:573 → 623

SH3_RUSC2; Src homology 3 domain of RUN and SH3 domain-containing protein 2

pfam02759
Location:162 → 264

RUN; RUN domain
NM_014806.5 → NP_055621.2 AP-4 complex accessory subunit RUSC2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and thus differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AL133476

Consensus CDS

CCDS35008.1

UniProtKB/Swiss-Prot

A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8

Related

ENSP00000355177.3, ENST00000361226.8

Conserved Domains (3) summary

cl02689
Location:1040 → 1142

RUN; RUN domain

cl17036
Location:1451 → 1501

SH3; Src Homology 3 domain superfamily

cl26464
Location:523 → 833

Atrophin-1; Atrophin-1 family

RNA

NR_052015.4 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL133476