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Aliases for RUSC2 Gene

Aliases for RUSC2 Gene

  • RUN And SH3 Domain Containing 2 2 3 5
  • RUN And SH3 Domain-Containing Protein 2 3 4
  • Interacting Protein Of Rab1 3 4
  • KIAA0375 4
  • Iporin 3
  • MRT61 3

External Ids for RUSC2 Gene

Previous GeneCards Identifiers for RUSC2 Gene

  • GC09P035536
  • GC09P035482
  • GC09P035483
  • GC09P035444

Summaries for RUSC2 Gene

Entrez Gene Summary for RUSC2 Gene

  • 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]

GeneCards Summary for RUSC2 Gene

RUSC2 (RUN And SH3 Domain Containing 2) is a Protein Coding gene. Diseases associated with RUSC2 include Mental Retardation, Autosomal Recessive 61. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is RUSC1.

Additional gene information for RUSC2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUSC2 Gene

Genomics for RUSC2 Gene

GeneHancer (GH) Regulatory Elements for RUSC2 Gene

Promoters and enhancers for RUSC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I035487 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.3 +0.7 657 5.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF213 E2F8 ZNF143 RUSC2 LOC105376026 PIGO RGP1 FANCG ARHGEF39 TMEM8B FAM214B SPAG8 FAM166B
GH09I035537 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 561.7 +49.0 48992 3.5 MXI1 POLR2A SIN3A CTBP2 REST CHD2 RUSC2 FAM166B OR13J1 PIR61372 RPL36AP33
GH09I035108 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 -376.8 -376807 9 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A YY1 E2F8 ZNF143 FOS FAM214B PIGO SPAG8 TMEM8B RUSC2 ARHGEF39 VCP FANCG UNC13B DNAJB5
GH09I035602 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 9.3 +114.8 114799 3.6 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 E2F8 ZNF143 TESK1 GC09M035603 CD72 ENSG00000231393 LOC101926948 CCDC107 RN7SL22P ARHGEF39 VCP RUSC2
GH09I035552 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 +63.8 63766 2.7 RB1 ARID4B SIN3A MZF1 RAD21 RFX5 ZNF143 RCOR1 MIXL1 ZNF654 RUSC2 ENSG00000234181 PIGO STOML2 OR13J1 ENSG00000227388 PIR61372 FAM166B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RUSC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RUSC2 gene promoter:

Genomic Locations for RUSC2 Gene

Genomic Locations for RUSC2 Gene
chr9:35,489,838-35,561,898
(GRCh38/hg38)
Size:
72,061 bases
Orientation:
Plus strand
chr9:35,490,007-35,561,895
(GRCh37/hg19)

Genomic View for RUSC2 Gene

Genes around RUSC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUSC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUSC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUSC2 Gene

Proteins for RUSC2 Gene

  • Protein details for RUSC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2Y8-RUSC2_HUMAN
    Recommended name:
    Iporin
    Protein Accession:
    Q8N2Y8
    Secondary Accessions:
    • A2RU62
    • A7E2A9
    • O15080
    • Q5W134
    • Q641Q6
    • Q6P1W7

    Protein attributes for RUSC2 Gene

    Size:
    1516 amino acids
    Molecular mass:
    161225 Da
    Quaternary structure:
    • Interacts with active RAB1A and RAB1B, and with GOLGA2.
    SequenceCaution:
    • Sequence=BAA20830.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for RUSC2 Gene

Post-translational modifications for RUSC2 Gene

No Post-translational modifications

Other Protein References for RUSC2 Gene

No data available for DME Specific Peptides for RUSC2 Gene

Domains & Families for RUSC2 Gene

Gene Families for RUSC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RUSC2 Gene

Suggested Antigen Peptide Sequences for RUSC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2Y8

UniProtKB/Swiss-Prot:

RUSC2_HUMAN :
  • The RUN domain is required for the interaction with RAB1A and RAB1B.
Domain:
  • The RUN domain is required for the interaction with RAB1A and RAB1B.
genes like me logo Genes that share domains with RUSC2: view

Function for RUSC2 Gene

Phenotypes From GWAS Catalog for RUSC2 Gene

Gene Ontology (GO) - Molecular Function for RUSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15796781
GO:0017137 Rab GTPase binding IPI 15796781
genes like me logo Genes that share ontologies with RUSC2: view
genes like me logo Genes that share phenotypes with RUSC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RUSC2 Gene

Localization for RUSC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUSC2 Gene

Cytoplasm, cytosol. Note=Cytosolic punctate distribution. Also observed in the perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RUSC2 gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RUSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0031410 cytoplasmic vesicle IDA 15796781
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with RUSC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RUSC2 Gene

Pathways & Interactions for RUSC2 Gene

SuperPathways for RUSC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RUSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with RUSC2: view

No data available for Pathways by source and SIGNOR curated interactions for RUSC2 Gene

Drugs & Compounds for RUSC2 Gene

No Compound Related Data Available

Transcripts for RUSC2 Gene

Unigene Clusters for RUSC2 Gene

RUN and SH3 domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RUSC2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: - - - - - - - - - - -
SP8:

Relevant External Links for RUSC2 Gene

GeneLoc Exon Structure for
RUSC2
ECgene alternative splicing isoforms for
RUSC2

Expression for RUSC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RUSC2 Gene

Protein differential expression in normal tissues from HIPED for RUSC2 Gene

This gene is overexpressed in Bone (20.5), Heart (17.2), Colon muscle (10.2), and Rectum (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RUSC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of RUSC2 Gene:

RUSC2

SOURCE GeneReport for Unigene cluster for RUSC2 Gene:

Hs.493796

mRNA Expression by UniProt/SwissProt for RUSC2 Gene:

Q8N2Y8-RUSC2_HUMAN
Tissue specificity: Widely expressed, with highest levels in brain and testis.

Evidence on tissue expression from TISSUES for RUSC2 Gene

  • Nervous system(4.7)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with RUSC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RUSC2 Gene

Orthologs for RUSC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RUSC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUSC2 33 34
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia RUSC2 34 33
  • 90.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RUSC2 34 33
  • 89.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rusc2 33
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Rusc2 34 16 33
  • 85.32 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RUSC2 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUSC2 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves RUSC2 33
  • 65 (n)
-- 34
  • 58 (a)
OneToMany
-- 34
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rusc2 33
  • 59.97 (n)
zebrafish
(Danio rerio)
Actinopterygii rusc2 34 33
  • 55.43 (n)
ManyToMany
Species where no ortholog for RUSC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RUSC2 Gene

ENSEMBL:
Gene Tree for RUSC2 (if available)
TreeFam:
Gene Tree for RUSC2 (if available)

Paralogs for RUSC2 Gene

Paralogs for RUSC2 Gene

genes like me logo Genes that share paralogs with RUSC2: view

Variants for RUSC2 Gene

Sequence variations from dbSNP and Humsavar for RUSC2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000048378 -- 35,489,334(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000096393 -- 35,550,400(+) C/T intron_variant
rs1000100229 -- 35,489,015(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000147863 -- 35,544,186(+) T/C intron_variant
rs1000150531 -- 35,555,558(+) A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RUSC2 Gene

Variant ID Type Subtype PubMed ID
esv1015523 CNV insertion 17803354
esv1590335 CNV insertion 17803354
esv3325098 CNV duplication 20981092
esv3620378 CNV gain 21293372
esv3620379 CNV gain 21293372
nsv1030303 CNV gain 25217958
nsv1125318 OTHER inversion 24896259
nsv512987 CNV insertion 21212237
nsv527028 CNV loss 19592680
nsv528256 CNV loss 19592680
nsv614163 CNV loss 21841781
nsv831545 CNV loss 17160897
nsv951701 CNV deletion 24416366
nsv968610 CNV duplication 23825009

Variation tolerance for RUSC2 Gene

Residual Variation Intolerance Score: 1.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.51; 64.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RUSC2 Gene

Human Gene Mutation Database (HGMD)
RUSC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUSC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUSC2 Gene

Disorders for RUSC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RUSC2 Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 61
  • mrt61
- elite association - COSMIC cancer census association via MalaCards
Search RUSC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RUSC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RUSC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RUSC2 Gene

Publications for RUSC2 Gene

  1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  3. Identification and characterization of Iporin as a novel interaction partner for rab1. (PMID: 15796781) Bayer M … Barnekow A (BMC cell biology 2005) 3 4 58
  4. Characterization of RUSC1 and RUSC2 genes in silico. (PMID: 15375525) Katoh M … Katoh M (Oncology reports 2004) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RUSC2 Gene

Sources for RUSC2 Gene

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