NP_001229510.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated: 100kDa; 105kDa Observed: 120kDa
NCBI Official Full Name
ras and Rab interactor 2 isoform 1
NCBI Official Synonym Full Names
Ras and Rab interactor 2
NCBI Official Synonym Symbols
NCBI Protein Information
ras and Rab interactor 2
UniProt Protein Name
Ras and Rab interactor 2
UniProt Synonym Protein Names
Ras association domain family 4; Ras inhibitor JC265; Ras interaction/interference protein 2
UniProt Synonym Gene Names
NCBI Summary for RIN2
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]
UniProt Comments for RIN2
Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP.
Research Articles on RIN2
Precautions
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Disclaimer
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Products associated with anti-RIN2 antibody
Pathways associated with anti-RIN2 antibody
Diseases associated with anti-RIN2 antibody
Disease Name |
Pubmed Publications |
Congenital Abnormalities Antibodies |
>4 publications with RIN2 and Congenital Abnormalities |
Brain Diseases Antibodies |
>2 publications with RIN2 and Brain Diseases |
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Antibodies |
>2 publications with RIN2 and Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis |
Neoplasms, Experimental Antibodies |
>1 publications with RIN2 and Neoplasms, Experimental |
Abnormalities, Multiple Antibodies |
>1 publications with RIN2 and Abnormalities, Multiple |
Hypertrophy Antibodies |
>1 publications with RIN2 and Hypertrophy |
Organs/Tissues associated with anti-RIN2 antibody
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