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

Gene ID: 54453, updated on 5-Aug-2022

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; AllianceGenome:HGNC:18750
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
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Genomic context

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See RIN2 in Genome Data Viewer
Location:
20p11.23
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (19757599..20002456)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (19810295..20056735)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (19738902..19983100)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929547 Neighboring gene uncharacterized LOC124904879 Neighboring gene SLC24A3 antisense RNA 1 Neighboring gene solute carrier family 24 member 3 Neighboring gene Sharpr-MPRA regulatory region 11499 Neighboring gene cutaneous T cell lymphoma-associated antigen 1 pseudogene Neighboring gene ribosomal protein L12 pseudogene 12 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 (30) 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. The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.
    Title: The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.
  2. Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.
    Title: Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.
  3. 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.
  4. 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.
  5. 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.
  6. 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).
  7. 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
RIN2 syndrome
MedGen: C2751321 OMIM: 613075 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
EBI GWAS Catalog
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

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
    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
    Conserved Domains (2) summary
    smart00167
    Location:442 → 560
    VPS9; Domain present in VPS9
    cd16131
    Location:581 → 671
    RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)

  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, Q9H071
    UniProtKB/TrEMBL
    A1A4T0
    Related
    ENSP00000255006.7, ENST00000255006.12
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
    cd16131
    Location:787 → 877
    RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    19757599..20002456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440212.1 → XP_047296168.1  ras and Rab interactor 2 isoform X2

  2. XM_047440213.1 → XP_047296169.1  ras and Rab interactor 2 isoform X2

  3. XM_017027888.2 → 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_017027887.2 → 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_047440211.1 → XP_047296167.1  ras and Rab interactor 2 isoform X2

  6. XM_047440215.1 → XP_047296171.1  ras and Rab interactor 2 isoform X4

    UniProtKB/Swiss-Prot
    Q9H071

  7. XM_047440210.1 → XP_047296166.1  ras and Rab interactor 2 isoform X2

  8. XM_047440209.1 → XP_047296165.1  ras and Rab interactor 2 isoform X2

  9. XM_047440214.1 → XP_047296170.1  ras and Rab interactor 2 isoform X4

    UniProtKB/Swiss-Prot
    Q9H071

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

    UniProtKB/Swiss-Prot
    Q8WYP3, Q9H071
    Related
    ENSP00000498085.1, ENST00000648440.1
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
    cd16131
    Location:787 → 877
    RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)

  11. XM_011529255.3 → XP_011527557.3  ras and Rab interactor 2 isoform X1

  12. 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, Q9H071
    Conserved Domains (3) summary
    smart00167
    Location:648 → 766
    VPS9; Domain present in VPS9
    cd10394
    Location:86 → 185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
    cd16131
    Location:787 → 877
    RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)

  13. XM_017027893.2 → XP_016883382.2  ras and Rab interactor 2 isoform X7

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

  15. XM_047440216.1 → XP_047296172.1  ras and Rab interactor 2 isoform X5

  16. XM_017027892.2 → 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_011529259.3 → XP_011527561.1  ras and Rab interactor 2 isoform X6

    Related
    ENST00000484638.1
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    19810295..20056735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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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