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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 Macs Syndrome and Scoliosis. Among its related pathways are Vesicle-mediated transport and Development HGF signaling pathway. Gene Ontology (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.

Additional gene information for RIN2 Gene

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

Genomics for RIN2 Gene

GeneHancer (GH) Regulatory Elements for RIN2 Gene

Promoters and enhancers for RIN2 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
GH20I019884 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 555 +130.2 130238 7.6 FOXA2 SIN3A ZNF48 YY1 GTF3C2 ATF7 FOS RXRA ZHX2 REST RIN2 NAA20 RPL12P12 ENSG00000275142 GC20P019952
GH20I019756 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.1 1067 4.7 HDGF PKNOX1 FOXA2 SIN3A DMAP1 ZNF48 YY1 GLIS2 SP3 RXRA LOC100421663 ENSG00000268628 RIN2 GC20P019756 ENSG00000232675 PIR61811
GH20I019813 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.8 +57.9 57919 6.3 SOX13 CTCF FOXA2 JUN MAX SIN3A BACH1 EBF1 DNMT3B RAD21 RIN2 ENSG00000232675 NAA20 RPL12P12 PIR61811
GH20I019989 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.6 +235.3 235301 6 SIN3A BATF RAD21 RFX5 ZNF335 GLIS2 ZNF143 RCOR1 FOS MIXL1 RIN2 NAA20 GC20P019952
GH20I019984 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +228.4 228432 2.7 CTCF SOX13 FOXA2 JUN EBF1 ZNF644 SKI SP1 JUND SMAD4 RIN2 NAA20 GC20P019952
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RIN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RIN2 gene promoter:

Genomic Locations for RIN2 Gene

Genomic Locations for RIN2 Gene
chr20:19,757,610-20,002,459
(GRCh38/hg38)
Size:
244,850 bases
Orientation:
Plus strand
chr20:19,867,165-19,983,103
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for RIN2 Gene

Domains & Families for RIN2 Gene

Gene Families for RIN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RIN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WYP3

UniProtKB/Swiss-Prot:

RIN2_HUMAN :
  • Belongs to the RIN (Ras interaction/interference) family.
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.

Phenotypes From GWAS Catalog for RIN2 Gene

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 TAS --
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

Clone Products

  • Addgene plasmids for RIN2

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

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 --
GO:0005829 cytosol TAS --
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:

Clone Products

  • Addgene plasmids for RIN2

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 CGAP 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.

Evidence on tissue expression from TISSUES for RIN2 Gene

  • Nervous system(4.2)
  • Blood(4.1)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RIN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with RIN2: view

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 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia RIN2 33 34
  • 91.11 (n)
rat
(Rattus norvegicus)
Mammalia Rin2 33
  • 89.52 (n)
mouse
(Mus musculus)
Mammalia Rin2 33 16 34
  • 88.69 (n)
cow
(Bos Taurus)
Mammalia RIN2 33 34
  • 86.18 (n)
oppossum
(Monodelphis domestica)
Mammalia RIN2 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIN2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIN2 33 34
  • 76.55 (n)
lizard
(Anolis carolinensis)
Reptilia RIN2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rin2 33
  • 69.22 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100006622 33
  • 61.03 (n)
rin2 34
  • 52 (a)
OneToMany
RIN2 (2 of 2) 34
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta spri 35 34
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea rin-1 34
  • 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 Variation AA Info Type
rs181298473 uncertain-significance, benign, not provided, not specified 19,975,667(+) G/A/C/T coding_sequence_variant, missense_variant
rs188147644 likely-benign, uncertain-significance, not specified, not provided 19,975,450(+) C/A coding_sequence_variant, synonymous_variant
rs587776915 pathogenic, Macrocephaly, alopecia, cutis laxa, and scoliosis 19,990,157(+) GC/ coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs759390822 pathogenic, Macrocephaly, alopecia, cutis laxa, and scoliosis 19,975,750(+) CCCCCCC/CCCCCC/CCCCCCCC coding_sequence_variant, frameshift
rs144752607 likely-benign, not specified 19,975,489(+) G/A coding_sequence_variant, synonymous_variant

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

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

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macs syndrome
  • macrocephaly, alopecia, cutis laxa, and scoliosis
scoliosis
alopecia
cutis laxa
  • loose skin
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.

Additional Disease Information for 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 (The Journal of biological chemistry 2002) 2 3 4 58
  2. Expression of three mammalian cDNAs that interfere with RAS function in Saccharomyces cerevisiae. (PMID: 1849280) Colicelli J … Wigler M (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 58
  3. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. (PMID: 19631308) Basel-Vanagaite L … Sprecher E (American journal of human genetics 2009) 3 4 58
  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 (The Journal of biological chemistry 2006) 2 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for RIN2 Gene

  • Addgene plasmids for RIN2

Sources for RIN2 Gene

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