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

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

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; 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

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

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
RIN2 syndrome
MedGen: C2751321 OMIM: 613075 GeneReviews: Not available
Compare labs

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

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
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 
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

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_001242581.2NP_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
    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
    Conserved Domains (2) summary
    smart00167
    Location:442560
    VPS9; Domain present in VPS9
    cd16131
    Location:581671
    RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)
  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, Q9H071
    UniProtKB/TrEMBL
    A1A4T0
    Related
    ENSP00000255006.7, ENST00000255006.12
    Conserved Domains (3) summary
    smart00167
    Location:648766
    VPS9; Domain present in VPS9
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
    cd16131
    Location:787877
    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_047440212.1XP_047296168.1  ras and Rab interactor 2 isoform X2

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

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

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

    UniProtKB/Swiss-Prot
    Q9H071
  7. XM_047440210.1XP_047296166.1  ras and Rab interactor 2 isoform X2

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

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

    UniProtKB/Swiss-Prot
    Q9H071
  10. XM_017027890.2XP_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:648766
    VPS9; Domain present in VPS9
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
    cd16131
    Location:787877
    RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)
  11. XM_011529255.3XP_011527557.3  ras and Rab interactor 2 isoform X1

  12. 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, Q9H071
    Conserved Domains (3) summary
    smart00167
    Location:648766
    VPS9; Domain present in VPS9
    cd10394
    Location:86185
    SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
    cd16131
    Location:787877
    RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)
  13. XM_017027893.2XP_016883382.2  ras and Rab interactor 2 isoform X7

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

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

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

    Related
    ENST00000484638.1
    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

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.