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

Gene ID: 9853, updated on 10-Dec-2024

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
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Genomic context

See RUSC2 in Genome Data Viewer
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_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3537 Neighboring gene unc-13 homolog B Neighboring gene MPRA-validated peak7230 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35327315-35328514 Neighboring gene Sharpr-MPRA regulatory region 14419 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:35373268-35373820 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:35397379-35398578 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35403221-35404420 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:35405745-35406290 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:35406291-35406836 Neighboring gene ATPase phospholipid transporting 8B5, pseudogene Neighboring gene zinc finger AN1-type containing 6 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:35481926-35482160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19864 Neighboring gene uncharacterized LOC105376026 Neighboring gene ribosomal protein L36a pseudogene 33 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:35561040-35561232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28325 Neighboring gene ciliary microtubule inner protein 2B Neighboring gene Sharpr-MPRA regulatory region 2201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19867 Neighboring gene Sharpr-MPRA regulatory region 203 Neighboring gene ribosomal protein S29 pseudogene 17 Neighboring gene microRNA 4667 Neighboring gene testis associated actin remodelling kinase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ60109, KIAA0375

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 PubMed 

General protein information

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)

  1. NM_001135999.2NP_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
  2. NM_001330740.2NP_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:573623
    SH3_RUSC2; Src homology 3 domain of RUN and SH3 domain-containing protein 2
    pfam02759
    Location:162264
    RUN; RUN domain
  3. NM_014806.5NP_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:10401142
    RUN; RUN domain
    cl17036
    Location:14511501
    SH3; Src Homology 3 domain superfamily
    cl26464
    Location:523833
    Atrophin-1; Atrophin-1 family

RNA

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    35490111..35561895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424207.1XP_047280163.1  AP-4 complex accessory subunit RUSC2 isoform X1

    UniProtKB/Swiss-Prot
    A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8
  2. XM_047424208.1XP_047280164.1  AP-4 complex accessory subunit RUSC2 isoform X1

    UniProtKB/Swiss-Prot
    A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    35509258..35582568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364340.1XP_054220315.1  AP-4 complex accessory subunit RUSC2 isoform X1

  2. XM_054364341.1XP_054220316.1  AP-4 complex accessory subunit RUSC2 isoform X1