Format

Send to:

Choose Destination

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

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

Summary

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

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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)

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_001242581.2NP_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:697815
    VPS9; Domain present in VPS9
    cd01776
    Location:839925
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:135234
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  2. NM_001378238.1NP_001365167.1  ras and Rab interactor 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049538, AL121761, AL132821
  3. NM_018993.4NP_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:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    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_005260731.2XP_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:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  2. XM_024451913.1XP_024307681.1  ras and Rab interactor 2 isoform X4

    Conserved Domains (3) summary
    smart00167
    Location:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  3. XM_017027888.1XP_016883377.1  ras and Rab interactor 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:697815
    VPS9; Domain present in VPS9
    cd01776
    Location:839925
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:135234
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  4. XM_017027887.1XP_016883376.1  ras and Rab interactor 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8WYP3
    Conserved Domains (3) summary
    smart00167
    Location:697815
    VPS9; Domain present in VPS9
    cd01776
    Location:839925
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:135234
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  5. XM_024451911.1XP_024307679.1  ras and Rab interactor 2 isoform X4

    Conserved Domains (3) summary
    smart00167
    Location:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  6. XM_006723574.4XP_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:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  7. XM_024451912.1XP_024307680.1  ras and Rab interactor 2 isoform X4

    Conserved Domains (3) summary
    smart00167
    Location:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  8. XM_017027890.1XP_016883379.1  ras and Rab interactor 2 isoform X4

    UniProtKB/Swiss-Prot
    Q8WYP3
    Related
    ENSP00000498085.1, ENST00000648440.1
    Conserved Domains (3) summary
    smart00167
    Location:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  9. XM_011529258.2XP_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:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  10. XM_017027891.1XP_016883380.1  ras and Rab interactor 2 isoform X5

    Conserved Domains (3) summary
    smart00167
    Location:603721
    VPS9; Domain present in VPS9
    cd01776
    Location:745831
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:41140
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  11. XM_017027893.1XP_016883382.1  ras and Rab interactor 2 isoform X7

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

  13. XM_006723577.2XP_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:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  14. XM_011529257.2XP_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:648766
    VPS9; Domain present in VPS9
    cd01776
    Location:790876
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  15. XM_017027889.1XP_016883378.1  ras and Rab interactor 2 isoform X3

    Related
    ENST00000484638.1
  16. XM_017027892.1XP_016883381.1  ras and Rab interactor 2 isoform X6

    Conserved Domains (3) summary
    smart00167
    Location:595713
    VPS9; Domain present in VPS9
    cd01776
    Location:737823
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:33132
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
  17. XM_011529259.2XP_011527561.1  ras and Rab interactor 2 isoform X6

    Conserved Domains (3) summary
    smart00167
    Location:595713
    VPS9; Domain present in VPS9
    cd01776
    Location:737823
    Rin1_RA; Ubiquitin domain of RIN1 RAS effector
    cd10394
    Location:33132
    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.
Support Center