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RIN2 Ras and Rab interactor 2 [ Homo sapiens (human) ]

Gene ID: 54453, updated on 24-Nov-2020

Summary

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Official Symbol
RIN2provided by HGNC
Official Full Name
Ras and Rab interactor 2provided by HGNC
Primary source
HGNC:HGNC:18750
See related
Ensembl:ENSG00000132669 MIM:610222
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
MACS; RASSF4
Summary
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]
Expression
Ubiquitous expression in lung (RPKM 8.3), endometrium (RPKM 7.8) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See RIN2 in Genome Data Viewer
Location:
20p11.23
Exon count:
25
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (19757610..20002456)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (19738254..19983103)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929547 Neighboring gene SLC24A3 antisense RNA 1 Neighboring gene solute carrier family 24 member 3 Neighboring gene translation initiation factor IF-2 Neighboring gene cutaneous T cell lymphoma-associated antigen 1 pseudogene Neighboring gene ribosomal protein L12 pseudogene 12 Neighboring gene uncharacterized LOC105372553 Neighboring gene N-alpha-acetyltransferase 20, NatB catalytic subunit Neighboring gene crooked neck pre-mRNA splicing factor 1 Neighboring gene cilia and flagella associated protein 61

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. Kameli R, et al. Eur J Med Genet, 2020 Jan. PMID 30769224
  2. RIN2 syndrome: Expanding the clinical phenotype. Rosato S, et al. Am J Med Genet A, 2016 Sep. PMID 27277385
  3. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. Aslanger AD, et al. Am J Med Genet A, 2014 Feb. PMID 24449201
  4. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Syx D, et al. Hum Genet, 2010 Jul. PMID 20424861
  5. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Basel-Vanagaite L, et al. Am J Hum Genet, 2009 Aug. PMID 19631308, Free PMC Article

See all (27) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.
    Title: Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.
  2. Rab5 as a novel regulator of calpain2 activity and focal adhesion proteolysis leading to cell migration
    Title: Calpain2 mediates Rab5-driven focal adhesion disassembly and cell migration.
  3. we describe a 10th patient, the first patient of Caucasian origin and the oldest reported patient so far, who harbors the previously identified homozygous RIN2 mutation c.1878dupC (p. (Ile627Hisfs*7)). Besides the hallmark features, this patient also presents problems not previously associated with RIN2 syndrome, including cervical vertebral fusion, mild hearing loss, and colonic fibrosis.
    Title: RIN2 syndrome: Expanding the clinical phenotype.
  4. We describe the fourth family with RIN2 syndrome in two siblings with a novel homozygous mutation in the RIN2 gene and exhibiting additional clinical features that may also contribute to further delineation of the phenotypic spectrum.
    Title: Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
  5. These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders.
    Title: The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
  6. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
    Title: RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
GeneReviews: Not available
Macrocephaly, alopecia, cutis laxa, and scoliosis
MedGen: C2751321 OMIM: 613075 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
GTPase regulator activity NAS
Non-traceable Author Statement
more info
 PubMed 
guanyl-nucleotide exchange factor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
  
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
  
positive regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of endothelial cell-matrix adhesion via fibronectin IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of vasculogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
small GTPase mediated signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
  
cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ras and Rab interactor 2
Names
RAB5 interacting protein 2
RAS association (RalGDS/AF-6) domain containing protein JC265
RAS association domain family 4
RAS inhibitor JC265
RAS interaction/interference protein 2

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.

Genomic

  1. NG_016310.2 RefSeqGene

    Range
    5001..117894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242581.2 → NP_001229510.1  ras and Rab interactor 2 isoform 1

    See identical proteins and their annotated locations for NP_001229510.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI695804, AK094884, AL136924, BM973182
    Consensus CDS
    CCDS56182.1
    UniProtKB/Swiss-Prot
    Q8WYP3
    Related
    ENSP00000255006.6, ENST00000255006.11
    Conserved Domains (3) summary
    smart00167
    Location:697 → 815
    VPS9; Domain present in VPS9
    cd01776
    Location:839 → 925
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:135 → 234
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  2. NM_001378238.1 → NP_001365167.1  ras and Rab interactor 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049538, AL121761, AL132821

  3. NM_018993.4 → NP_061866.1  ras and Rab interactor 2 isoform 2

    See identical proteins and their annotated locations for NP_061866.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AL049538, AL121761, AL132821
    UniProtKB/Swiss-Prot
    Q8WYP3
    UniProtKB/TrEMBL
    A1A4T0
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    19757610..20002456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260731.2 → XP_005260788.1  ras and Rab interactor 2 isoform X4

    See identical proteins and their annotated locations for XP_005260788.1

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  2. XM_024451913.1 → XP_024307681.1  ras and Rab interactor 2 isoform X4

    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  3. XM_017027888.1 → XP_016883377.1  ras and Rab interactor 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:697 → 815
    VPS9; Domain present in VPS9
    cd01776
    Location:839 → 925
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:135 → 234
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  4. XM_017027887.1 → XP_016883376.1  ras and Rab interactor 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:697 → 815
    VPS9; Domain present in VPS9
    cd01776
    Location:839 → 925
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:135 → 234
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  5. XM_024451911.1 → XP_024307679.1  ras and Rab interactor 2 isoform X4

    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  6. XM_006723574.4 → XP_006723637.1  ras and Rab interactor 2 isoform X4

    See identical proteins and their annotated locations for XP_006723637.1

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  7. XM_024451912.1 → XP_024307680.1  ras and Rab interactor 2 isoform X4

    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  8. XM_017027890.1 → XP_016883379.1  ras and Rab interactor 2 isoform X4

    UniProtKB/Swiss-Prot
    Q8WYP3
    Related
    ENSP00000498085.1, ENST00000648440.1
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  9. XM_011529258.2 → XP_011527560.1  ras and Rab interactor 2 isoform X4

    See identical proteins and their annotated locations for XP_011527560.1

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  10. XM_017027891.1 → XP_016883380.1  ras and Rab interactor 2 isoform X5

    Conserved Domains (3) summary
    smart00167
    Location:603 → 721
    VPS9; Domain present in VPS9
    cd01776
    Location:745 → 831
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:41 → 140
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  11. XM_017027893.1 → XP_016883382.1  ras and Rab interactor 2 isoform X7

  12. XM_011529255.2 → XP_011527557.2  ras and Rab interactor 2 isoform X1

  13. XM_006723577.2 → XP_006723640.1  ras and Rab interactor 2 isoform X4

    See identical proteins and their annotated locations for XP_006723640.1

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  14. XM_011529257.2 → XP_011527559.1  ras and Rab interactor 2 isoform X4

    See identical proteins and their annotated locations for XP_011527559.1

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd01776
    Location:790 → 876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  15. XM_017027889.1 → XP_016883378.1  ras and Rab interactor 2 isoform X3

    Related
    ENST00000484638.1

  16. XM_017027892.1 → XP_016883381.1  ras and Rab interactor 2 isoform X6

    Conserved Domains (3) summary
    smart00167
    Location:595 → 713
    VPS9; Domain present in VPS9
    cd01776
    Location:737 → 823
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:33 → 132
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

  17. XM_011529259.2 → XP_011527561.1  ras and Rab interactor 2 isoform X6

    Conserved Domains (3) summary
    smart00167
    Location:595 → 713
    VPS9; Domain present in VPS9
    cd01776
    Location:737 → 823
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:33 → 132
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001378236.1: Suppressed sequence

    Description
    NM_001378236.1: This RefSeq was removed because it is redundant with another RefSeq.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WYP3.1 GenPept UniProtKB/Swiss-Prot:Q8WYP3

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