• Gene id: 54453

Gene Summary

• Gene Symbol: RIN2   Gene   UCSC   Ensembl
• Aliases: MACS, RASSF4
• Gene name: Ras and Rab interactor 2
• Alternate names: ras and Rab interactor 2, 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,
• Gene location: 20p11.23 (19757609: 20002458)     Exons: 25     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 610222

Protein Summary

• Protein general information: Q8WYP3  
  • Name: Ras and Rab interactor 2 (Ras association domain family 4) (Ras inhibitor JC265) (Ras interaction/interference protein 2)
  • Length: 895  
  • Mass: 100163
  • Tissue specificity: Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in skeletal muscle, spleen and peripheral blood. {ECO
• Sequence:

  MTAWTMGARGLDKRGSFFKLIDTIASEIGELKQEMVRTDVNLENGLEPAETHSMVRHKDGGYSEEEDVKTCARDS
  GYDSLSNRLSILDRLLHTHPIWLQLSLSEEEAAEVLQAQPPGIFLVHKSTKMQKKVLSLRLPCEFGAPLKEFAIK
  ESTYTFSLEGSGISFADLFRLIAFYCISRDVLPFTLKLPYAISTAKSEAQLEELAQMGLNFWSSPADSKPPNLPP
  PHRPLSSDGVCPASLRQLCLINGVHSIKTRTPSELECSQTNGALCFINPLFLKVHSQDLSGGLKRPSTRTPNANG
  TERTRSPPPRPPPPAINSLHTSPRLARTETQTSMPETVNHNKHGNVALPGTKPTPIPPPRLKKQASFLEAEGGAK
  TLSGGRPGAGPELELGTAGSPGGAPPEAAPGDCTRAPPPSSESRPPCHGGRQRLSDMSISTSSSDSLEFDRSMPL
  FGYEADTNSSLEDYEGESDQETMAPPIKSKKKRSSSFVLPKLVKSQLQKVSGVFSSFMTPEKRMVRRIAELSRDK
  CTYFGCLVQDYVSFLQENKECHVSSTDMLQTIRQFMTQVKNYLSQSSELDPPIESLIPEDQIDVVLEKAMHKCIL
  KPLKGHVEAMLKDFHMADGSWKQLKENLQLVRQRNPQELGVFAPTPDFVDVEKIKVKFMTMQKMYSPEKKVMLLL
  RVCKLIYTVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEYMMELLDPSLLHGEGGYYLTSAYGALSLIKN
  FQEEQAARLLSSETRDTLRQWHKRRTTNRTIPSVDDFQNYLRVAFQEVNSGCTGKTLLVRPYITTEDVCQICAEK
  FKVGDPEEYSLFLFVDETWQQLAEDTYPQKIKAELHSRPQPHIFHFVYKRIKNDPYGIIFQNGEEDLTTS

• Structural information:
  • Protein Domains: (97..19-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (618..75-)
    (/note="VPS9-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00550-)
    (787..87-)
    (/note="Ras-associating-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00166-)
  • Interpro: IPR000159  IPR035868  IPR000980  IPR036860  IPR029071   IPR003123  IPR037191  
  • Prosite: PS50200 PS50001 PS51205
  • CDD: cd10394
  • STRING: ENSP00000255006
• Other Databases: GeneCards:  RIN2  Malacards:  RIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001214	positive regulation of vasculogenesis	IMP	biological process
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:1904906	positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	NAS	molecular function
GO:0007264	small GTPase mediated signal transduction	NAS	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0030695	GTPase regulator activity	NAS	molecular function

Diseases

Associated diseases	References
Macrocephaly, alopecia, cutis laxa, and scoliosis	KEGG:H00906
Macrocephaly, alopecia, cutis laxa, and scoliosis	KEGG:H00906
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R