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Aliases for RIN2 Gene

Aliases for RIN2 Gene

  • Ras And Rab Interactor 2 2 3 5
  • Ras Association Domain Family 4 3 4
  • RASSF4 3 4
  • RAS Association (RalGDS/AF-6) Domain Containing Protein JC265 3
  • RAS Interaction/Interference Protein 2 3
  • Ras Interaction/Interference Protein 2 4
  • RAB5 Interacting Protein 2 3
  • RAS Inhibitor JC265 3
  • Ras Inhibitor JC265 4
  • MACS 3

External Ids for RIN2 Gene

Previous GeneCards Identifiers for RIN2 Gene

  • GC20P019858
  • GC20P019865
  • GC20P019818

Summaries for RIN2 Gene

Entrez Gene Summary for RIN2 Gene

  • The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

GeneCards Summary for RIN2 Gene

RIN2 (Ras And Rab Interactor 2) is a Protein Coding gene. Diseases associated with RIN2 include Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis and Scoliosis. Among its related pathways are Vesicle-mediated transport and Development HGF signaling pathway. GO annotations related to this gene include GTPase activator activity and GTPase regulator activity. An important paralog of this gene is RIN3.

UniProtKB/Swiss-Prot for RIN2 Gene

  • Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIN2 Gene

Genomics for RIN2 Gene

Regulatory Elements for RIN2 Gene

Enhancers for RIN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F019812 1.4 FANTOM5 Ensembl ENCODE 18.8 +57.8 57837 6.5 SOX13 JUN SIN3A MAX YBX1 ZIC2 DNMT3B RAD21 RARA POLR2A RIN2 ENSG00000232675 NAA20 RPL12P12 PIR61811
GH20F020001 1.5 FANTOM5 Ensembl ENCODE 17.5 +246.2 246189 3.6 PKNOX1 ATF1 DMAP1 ZNF48 KLF7 SP5 ZHX2 TBX21 PPARG MIER3 RIN2 NAA20 GC20P019952
GH20F019984 1.3 FANTOM5 Ensembl ENCODE 15.1 +228.4 228433 2.7 SOX13 CTCF TFAP4 JUN ZNF644 YY1 KAT2B CREM MIXL1 NFIA RIN2 NAA20 GC20P019952
GH20F019913 1.7 FANTOM5 Ensembl ENCODE 11.5 +160.3 160349 8.9 ATF1 MLX ARID4B YY1 FOS SP5 JUNB MXD4 TBX21 PPARG RIN2 NAA20 GC20P019952 ENSG00000275142
GH20F019989 1.1 Ensembl ENCODE 15.6 +235.3 235301 6.0 SIN3A RAD21 GLIS2 FOS MIXL1 ZNF362 ZNF654 JUNB USF2 CEBPB RIN2 NAA20 GC20P019952
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RIN2 on UCSC Golden Path with GeneCards custom track

Promoters for RIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001447845 690 2601 PKNOX1 SIN3A DMAP1 ZNF48 YY1 GLIS2 SP3 SP5 KAT8 SSRP1

Genomic Location for RIN2 Gene

Chromosome:
20
Start:
19,757,610 bp from pter
End:
20,002,459 bp from pter
Size:
244,850 bases
Orientation:
Plus strand

Genomic View for RIN2 Gene

Genes around RIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIN2 Gene

Proteins for RIN2 Gene

  • Protein details for RIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYP3-RIN2_HUMAN
    Recommended name:
    Ras and Rab interactor 2
    Protein Accession:
    Q8WYP3
    Secondary Accessions:
    • Q00425
    • Q5TFT8
    • Q9BQL3
    • Q9H071

    Protein attributes for RIN2 Gene

    Size:
    895 amino acids
    Molecular mass:
    100163 Da
    Quaternary structure:
    • Homotetramer; probably composed of anti-parallel linkage of two parallel dimers. Interacts with Ras. Interacts with RAB5B, with a much higher affinity for GTP-bound activated RAB5B. Does not interact with other members of the Rab family.
    SequenceCaution:
    • Sequence=CAB66858.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIN2 Gene

Post-translational modifications for RIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIN2 Gene

Domains & Families for RIN2 Gene

Gene Families for RIN2 Gene

Protein Domains for RIN2 Gene

Suggested Antigen Peptide Sequences for RIN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WYP3

UniProtKB/Swiss-Prot:

RIN2_HUMAN :
  • Contains 1 Ras-associating domain.
  • Belongs to the RIN (Ras interaction/interference) family.
Domain:
  • Contains 1 Ras-associating domain.
  • Contains 1 SH2 domain.
  • Contains 1 VPS9 domain.
Family:
  • Belongs to the RIN (Ras interaction/interference) family.
genes like me logo Genes that share domains with RIN2: view

Function for RIN2 Gene

Molecular function for RIN2 Gene

UniProtKB/Swiss-Prot Function:
Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP.

Gene Ontology (GO) - Molecular Function for RIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0017112 Rab guanyl-nucleotide exchange factor activity NAS 11733506
GO:0030695 GTPase regulator activity NAS 1849280
genes like me logo Genes that share ontologies with RIN2: view
genes like me logo Genes that share phenotypes with RIN2: view

Human Phenotype Ontology for RIN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RIN2 Gene

Localization for RIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIN2 Gene

Cytoplasm.

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 RIN2 gene
Compartment Confidence
cytosol 5
nucleus 3
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for RIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RIN2: view

Pathways & Interactions for RIN2 Gene

genes like me logo Genes that share pathways with RIN2: view

Pathways by source for RIN2 Gene

Gene Ontology (GO) - Biological Process for RIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction NAS 1849280
GO:0043547 positive regulation of GTPase activity IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with RIN2: view

No data available for SIGNOR curated interactions for RIN2 Gene

Drugs & Compounds for RIN2 Gene

(3) Drugs for RIN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RIN2: view

Transcripts for RIN2 Gene

Unigene Clusters for RIN2 Gene

Ras and Rab interactor 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for RIN2 Gene

GeneLoc Exon Structure for
RIN2
ECgene alternative splicing isoforms for
RIN2

Expression for RIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RIN2 Gene

This gene is overexpressed in Heart (49.6), Placenta (11.7), and Gallbladder (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RIN2 Gene



Protein tissue co-expression partners for RIN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RIN2 Gene:

RIN2

SOURCE GeneReport for Unigene cluster for RIN2 Gene:

Hs.472270

mRNA Expression by UniProt/SwissProt for RIN2 Gene:

Q8WYP3-RIN2_HUMAN
Tissue specificity: Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in skeletal muscle, spleen and peripheral blood.
genes like me logo Genes that share expression patterns with RIN2: view

Primer Products

No data available for mRNA differential expression in normal tissues for RIN2 Gene

Orthologs for RIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIN2 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia RIN2 34 35
  • 91.11 (n)
rat
(Rattus norvegicus)
Mammalia Rin2 34
  • 89.52 (n)
mouse
(Mus musculus)
Mammalia Rin2 34 16 35
  • 88.69 (n)
cow
(Bos Taurus)
Mammalia RIN2 34 35
  • 86.18 (n)
oppossum
(Monodelphis domestica)
Mammalia RIN2 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIN2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIN2 34 35
  • 76.55 (n)
lizard
(Anolis carolinensis)
Reptilia RIN2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rin2 34
  • 69.22 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100006622 34
  • 61.03 (n)
rin2 35
  • 52 (a)
OneToMany
RIN2 (2 of 2) 35
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta spri 36 35
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea rin-1 35
  • 12 (a)
OneToMany
Species where no ortholog for RIN2 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)
  • 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)

Evolution for RIN2 Gene

ENSEMBL:
Gene Tree for RIN2 (if available)
TreeFam:
Gene Tree for RIN2 (if available)

Paralogs for RIN2 Gene

Paralogs for RIN2 Gene

(4) SIMAP similar genes for RIN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RIN2: view

Variants for RIN2 Gene

Sequence variations from dbSNP and Humsavar for RIN2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs587776915 Pathogenic 19,990,157(+) CAGGA(-/GC)TGGGG reference, frameshift-variant
rs869320663 Pathogenic 19,975,756(+) CCCCC(-/C)ATCGA reference, frameshift-variant
rs181853315 Likely benign 19,935,125(+) GAGAT(C/T)GGAGA reference, synonymous-codon, utr-variant-5-prime
rs188147644 Likely benign 19,975,450(+) GCGCC(A/C)CCCAT reference, synonymous-codon
rs183141566 Uncertain significance 20,000,749(+) GGAGT(A/T)CAGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RIN2 Gene

Variant ID Type Subtype PubMed ID
nsv833939 CNV gain 17160897
nsv817888 CNV gain 17921354
nsv585699 CNV loss 21841781
nsv585695 CNV loss 21841781
nsv585689 CNV loss 21841781
nsv585687 CNV gain+loss 21841781
nsv585684 CNV gain 21841781
nsv585678 CNV loss 21841781
nsv585677 CNV loss 21841781
nsv585676 CNV gain+loss 21841781
nsv585675 CNV loss 21841781
nsv585674 CNV gain 21841781
nsv585673 CNV loss 21841781
nsv585672 CNV loss 21841781
nsv478245 CNV novel sequence insertion 20440878
nsv3319 CNV deletion 18451855
nsv3318 CNV insertion 18451855
nsv180590 CNV deletion 16902084
nsv179259 CNV deletion 16902084
nsv1109357 CNV deletion 24896259
nsv1072528 CNV deletion 25765185
esv3645466 CNV loss 21293372
esv3645465 CNV gain 21293372
esv3645464 CNV loss 21293372
esv3645463 CNV gain 21293372
esv3645457 CNV gain 21293372
esv3567919 CNV loss 25503493
esv27878 CNV gain 19812545
dgv7515n54 CNV loss 21841781
dgv7514n54 CNV loss 21841781
dgv7513n54 CNV loss 21841781
dgv7512n54 CNV gain 21841781
dgv7511n54 CNV gain+loss 21841781
dgv7510n54 CNV loss 21841781
dgv7509n54 CNV loss 21841781

Variation tolerance for RIN2 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.34; 81.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RIN2 Gene

Human Gene Mutation Database (HGMD)
RIN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIN2 Gene

Disorders for RIN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RIN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macrocephaly, alopecia, cutis laxa, and scoliosis
  • macs syndrome
scoliosis
cutis laxa
  • loose skin
alopecia
gingival hypertrophy
  • hypertrophy of gingivae
- elite association - COSMIC cancer census association via MalaCards
Search RIN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RIN2_HUMAN
  • MACS syndrome (MACS) [MIM:613075]: A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications. {ECO:0000269 PubMed:19631308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RIN2

Genetic Association Database (GAD)
RIN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIN2
genes like me logo Genes that share disorders with RIN2: view

No data available for Genatlas for RIN2 Gene

Publications for RIN2 Gene

  1. A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5. (PMID: 11733506) Saito K. … Katada T. (J. Biol. Chem. 2002) 2 3 4 64
  2. Expression of three mammalian cDNAs that interfere with RAS function in Saccharomyces cerevisiae. (PMID: 1849280) Colicelli J. … Wigler M. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 64
  3. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. (PMID: 19631308) Basel-Vanagaite L. … Sprecher E. (Am. J. Hum. Genet. 2009) 3 4 64
  4. Involvement of the Ras-Ras-activated Rab5 guanine nucleotide exchange factor RIN2-Rab5 pathway in the hepatocyte growth factor-induced endocytosis of E-cadherin. (PMID: 16423831) Kimura T. … Takai Y. (J. Biol. Chem. 2006) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for RIN2 Gene

Sources for RIN2 Gene

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