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Aliases for RIN2 Gene

Aliases for RIN2 Gene

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

External Ids for RIN2 Gene

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 Development HGF signaling pathway. GO annotations related to this gene include GTPase activator activity and Rab guanyl-nucleotide exchange factor 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

Genomic Location for RIN2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIN2 Gene

Regulatory Elements 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

Proteomics data for RIN2 Gene at MOPED

Post-translational modifications for RIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RIN2 Gene

Domains for RIN2 Gene

Protein Domains for RIN2 Gene

UniProtKB/Swiss-Prot:

RIN2_HUMAN
Domain:
  • Contains 1 Ras-associating domain.:
    • Q8WYP3
  • Contains 1 SH2 domain.:
    • Q8WYP3
  • Contains 1 VPS9 domain.:
    • Q8WYP3
Family:
  • Belongs to the RIN (Ras interaction/interference) family.:
    • Q8WYP3
genes like me logo Genes that share domains with RIN2: view

No data available for Gene Families for RIN2 Gene

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

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

Localization for RIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIN2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RIN2 Gene COMPARTMENTS Subcellular localization image for RIN2 gene
Compartment Confidence
cytosol 3
nucleus 2
endosome 1
golgi apparatus 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 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 --
GO:0007264 small GTPase mediated signal transduction NAS 1849280
GO:0043547 positive regulation of GTPase activity NAS 11733506
GO:0050790 regulation of catalytic activity NAS 1849280
genes like me logo Genes that share ontologies with RIN2: view

Compounds for RIN2 Gene

(3) HMDB Compounds for RIN2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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:

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 for RIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RIN2 Gene

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 expressions with RIN2: view

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 36
  • 99.72 (n)
  • 99.68 (a)
RIN2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RIN2 36
  • 86.18 (n)
  • 87.49 (a)
RIN2 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RIN2 36
  • 91.11 (n)
  • 92.94 (a)
RIN2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rin2 36
  • 88.69 (n)
  • 92.11 (a)
Rin2 16
Rin2 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RIN2 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIN2 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rin2 36
  • 89.52 (n)
  • 92.51 (a)
chicken
(Gallus gallus)
Aves RIN2 36
  • 76.55 (n)
  • 79.53 (a)
RIN2 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIN2 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rin2 36
  • 69.22 (n)
  • 68.76 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100006622 36
  • 61.03 (n)
  • 59.17 (a)
rin2 37
  • 52 (a)
OneToMany
RIN2 (2 of 2) 37
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta spri 37
  • 11 (a)
OneToMany
spri 38
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea rin-1 37
  • 12 (a)
OneToMany
Species with no ortholog for RIN2:
  • 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

Selected 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 MAF
rs14344 -- 20,001,903(+) ATGCA(A/G)TGAGG utr-variant-3-prime
rs14666 -- 20,002,344(-) CTGAG(G/T)GTTCT utr-variant-3-prime
rs85263 -- 19,965,412(+) GAATG(C/T)GCATG intron-variant
rs169202 -- 19,998,335(+) gctca(C/T)gcctg intron-variant
rs169204 -- 19,995,261(+) ttttt(A/T)aaaaa intron-variant

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
nsv3318 CNV Insertion 18451855
esv27878 CNV Gain 19812545
esv2722277 CNV Deletion 23290073
nsv179259 CNV Loss 16902084
nsv3319 CNV Loss 18451855
nsv180590 CNV Loss 16902084

Relevant External Links for RIN2 Gene

HapMap Linkage Disequilibrium report
RIN2
Human Gene Mutation Database (HGMD)
RIN2

Disorders for RIN2 Gene

(1) OMIM Diseases for RIN2 Gene (610222)

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.

(1) University of Copenhagen DISEASES for RIN2 Gene

Relevant External Links for RIN2

Genetic Association Database (GAD)
RIN2
genes like me logo Genes that share disorders with RIN2: view

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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  5. 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

Products for RIN2 Gene

Sources for RIN2 Gene

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