LOCUS       NM_018993               4440 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 2,
            mRNA.
ACCESSION   NM_018993
VERSION     NM_018993.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4440)
  AUTHORS   Qiao,L., Dong,C., Jia,W. and Ma,B.
  TITLE     NAA20 recruits Rin2 and promotes triple-negative breast cancer
            progression by regulating Rab5A-mediated activation of EGFR
            signaling
  JOURNAL   Cell Signal 112, 110922 (2023)
   PUBMED   37827343
  REMARK    GeneRIF: NAA20 recruits Rin2 and promotes triple-negative breast
            cancer progression by regulating Rab5A-mediated activation of EGFR
            signaling.
REFERENCE   2  (bases 1 to 4440)
  AUTHORS   Liu,X., Dai,X., Dai,C., Zhu,Q., Chen,A., Chen,Y., Chen,N., Chen,P.,
            Rong,R., Shi,C., Xiao,S. and Dong,J.
  TITLE     Rare adult pilocytic astrocytoma of the septum pellucidum with
            novel RIN2::BRAF fusion
  JOURNAL   Virchows Arch 482 (2), 445-450 (2023)
   PUBMED   36520196
  REMARK    GeneRIF: Rare adult pilocytic astrocytoma of the septum pellucidum
            with novel RIN2::BRAF fusion.
            Erratum:[Virchows Arch. 2023 Feb;482(2):451. doi:
            10.1007/s00428-022-03485-3.. PMID: 36576580]
REFERENCE   3  (bases 1 to 4440)
  AUTHORS   Kempers,L., Wakayama,Y., van der Bijl,I., Furumaya,C., De
            Cuyper,I.M., Jongejan,A., Kat,M., van Stalborch,A.D., van
            Boxtel,A.L., Hubert,M., Geerts,D., van Buul,J.D., de Korte,D.,
            Herzog,W. and Margadant,C.
  TITLE     The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to
            control gene expression and tip cell identity during angiogenesis
  JOURNAL   Angiogenesis 24 (3), 695-714 (2021)
   PUBMED   33983539
  REMARK    GeneRIF: The endosomal RIN2/Rab5C machinery prevents VEGFR2
            degradation to control gene expression and tip cell identity during
            angiogenesis.
REFERENCE   4  (bases 1 to 4440)
  AUTHORS   Kameli,R., Ashrafi,M.R., Ehya,F., Alizadeh,H., Hosseinpour,S.,
            Garshasbi,M. and Tavasoli,A.R.
  TITLE     Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion
            of clinical spectrum
  JOURNAL   Eur J Med Genet 63 (1), 103629 (2020)
   PUBMED   30769224
  REMARK    GeneRIF: Leukoencephalopathy in RIN2 syndrome: Novel mutation and
            expansion of clinical spectrum.
REFERENCE   5  (bases 1 to 4440)
  AUTHORS   Syx,D., Malfait,F., Van Laer,L., Hellemans,J., Hermanns-Le,T.,
            Willaert,A., Benmansour,A., De Paepe,A. and Verloes,A.
  TITLE     The RIN2 syndrome: a new autosomal recessive connective tissue
            disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
  JOURNAL   Hum Genet 128 (1), 79-88 (2010)
   PUBMED   20424861
  REMARK    GeneRIF: 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.
REFERENCE   6  (bases 1 to 4440)
  AUTHORS   Basel-Vanagaite,L., Sarig,O., Hershkovitz,D., Fuchs-Telem,D.,
            Rapaport,D., Gat,A., Isman,G., Shirazi,I., Shohat,M., Enk,C.D.,
            Birk,E., Kohlhase,J., Matysiak-Scholze,U., Maya,I., Knopf,C.,
            Peffekoven,A., Hennies,H.C., Bergman,R., Horowitz,M.,
            Ishida-Yamamoto,A. and Sprecher,E.
  TITLE     RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and
            scoliosis: MACS syndrome
  JOURNAL   Am J Hum Genet 85 (2), 254-263 (2009)
   PUBMED   19631308
  REMARK    GeneRIF: RIN2 deficiency results in macrocephaly, alopecia, cutis
            laxa, and scoliosis: MACS syndrome.
REFERENCE   7  (bases 1 to 4440)
  AUTHORS   Kimura,T., Sakisaka,T., Baba,T., Yamada,T. and Takai,Y.
  TITLE     Involvement of the Ras-Ras-activated Rab5 guanine nucleotide
            exchange factor RIN2-Rab5 pathway in the hepatocyte growth
            factor-induced endocytosis of E-cadherin
  JOURNAL   J Biol Chem 281 (15), 10598-10609 (2006)
   PUBMED   16423831
REFERENCE   8  (bases 1 to 4440)
  AUTHORS   Kajiho,H., Saito,K., Tsujita,K., Kontani,K., Araki,Y., Kurosu,H.
            and Katada,T.
  TITLE     RIN3: a novel Rab5 GEF interacting with amphiphysin II involved in
            the early endocytic pathway
  JOURNAL   J Cell Sci 116 (Pt 20), 4159-4168 (2003)
   PUBMED   12972505
REFERENCE   9  (bases 1 to 4440)
  AUTHORS   Saito,K., Murai,J., Kajiho,H., Kontani,K., Kurosu,H. and Katada,T.
  TITLE     A novel binding protein composed of homophilic tetramer exhibits
            unique properties for the small GTPase Rab5
  JOURNAL   J Biol Chem 277 (5), 3412-3418 (2002)
   PUBMED   11733506
REFERENCE   10 (bases 1 to 4440)
  AUTHORS   Colicelli,J., Nicolette,C., Birchmeier,C., Rodgers,L., Riggs,M. and
            Wigler,M.
  TITLE     Expression of three mammalian cDNAs that interfere with RAS
            function in Saccharomyces cerevisiae
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2913-2917 (1991)
   PUBMED   1849280
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121761.5, AL132821.17 and
            AL049538.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 4, 2020 this sequence version replaced NM_018993.3.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853561.18305.1,
                                           SRR14038194.2958842.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000255006.12/ ENSP00000255006.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AL121761.5         54623-54692
            71-196              AL121761.5         95987-96112
            197-289             AL132821.17        67045-67137
            290-390             AL049538.9         12596-12696
            391-583             AL049538.9         34112-34304
            584-695             AL049538.9         38197-38308
            696-768             AL049538.9         42449-42521
            769-860             AL049538.9         48335-48426
            861-1994            AL049538.9         52151-53284
            1995-2300           AL049538.9         67503-67808
            2301-2432           AL049538.9         69665-69796
            2433-2596           AL049538.9         74176-74339
            2597-4440           AL049538.9         78110-79953
FEATURES             Location/Qualifiers
     source          1..4440
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     gene            1..4440
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /note="Ras and Rab interactor 2"
                     /db_xref="GeneID:54453"
                     /db_xref="HGNC:HGNC:18750"
                     /db_xref="MIM:610222"
     exon            1..70
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            71..196
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            197..289
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..2920
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /note="isoform 2 is encoded by transcript variant 2; RAS
                     association (RalGDS/AF-6) domain containing protein JC265;
                     RAS interaction/interference protein 2; RAS inhibitor
                     JC265; RAS association domain family 4; RAB5 interacting
                     protein 2"
                     /codon_start=1
                     /product="ras and Rab interactor 2 isoform 2"
                     /protein_id="NP_061866.1"
                     /db_xref="CCDS:CCDS93018.1"
                     /db_xref="GeneID:54453"
                     /db_xref="HGNC:HGNC:18750"
                     /db_xref="MIM:610222"
                     /translation="MTAWTMGARGLDKRGSFFKLIDTIASEIGELKQEMVRTDVNLEN
                     GLEPAETHSMVRHKDGGYSEEEDVKTCARDSGYDSLSNRLSILDRLLHTHPIWLQLSL
                     SEEEAAEVLQAQPPGIFLVHKSTKMQKKVLSLRLPCEFGAPLKEFAIKESTYTFSLEG
                     SGISFADLFRLIAFYCISRDVLPFTLKLPYAISTAKSEAQLEELAQMGLNFWSSPADS
                     KPPNLPPPHRPLSSDGVCPASLRQLCLINGVHSIKTRTPSELECSQTNGALCFINPLF
                     LKVHSQDLSGGLKRPSTRTPNANGTERTRSPPPRPPPPAINSLHTSPRLARTETQTSM
                     PETVNHNKHGNVALPGTKPTPIPPPRLKKQASFLEAEGGAKTLSGGRPGAGPELELGT
                     AGSPGGAPPEAAPGDCTRAPPPSSESRPPCHGGRQRLSDMSISTSSSDSLEFDRSMPL
                     FGYEADTNSSLEDYEGESDQETMAPPIKSKKKRSSSFVLPKLVKSQLQKVSGVFSSFM
                     TPEKRMVRRIAELSRDKCTYFGCLVQDYVSFLQENKECHVSSTDMLQTIRQFMTQVKN
                     YLSQSSELDPPIESLIPEDQIDVVLEKAMHKCILKPLKGHVEAMLKDFHMADGSWKQL
                     KENLQLVRQRNPQELGVFAPTPDFVDVEKIKVKFMTMQKMYSPEKKVMLLLRVCKLIY
                     TVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEYMMELLDPSLLHGEGGYYLTS
                     AYGALSLIKNFQEEQAARLLSSETRDTLRQWHKRRTTNRTIPSVDDFQNYLRVAFQEV
                     NSGCTGKTLLVRPYITTEDVCQICAEKFKVGDPEEYSLFLFVDETWQQLAEDTYPQKI
                     KAELHSRPQPHIFHFVYKRIKNDPYGIIFQNGEEDLTTS"
     exon            290..390
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            391..583
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            584..695
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            696..768
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            769..860
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1994
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            1995..2300
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            2301..2432
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            2433..2596
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     exon            2597..4440
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4423..4428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /note="hexamer: AATAAT"
     polyA_site      4440
                     /gene="RIN2"
                     /gene_synonym="MACS; RASSF4"
                     /note="major polyA site"
ORIGIN      
        1 agccccgcgc tcgtctttgg ggccaccggt cgcccccgcc tccgggacct gcggggaggg
       61 cccgcgagag atggagacga gagatctgga cttctgaaca tctaccggaa aagataaaat
      121 gtgcaagccc ttcagaacgc tggggaggtt gggctgaact gcagtgggag aggagaagag
      181 atgctggcgt gaaggggagt ccccggcgtg cagtggagcc tcgctggggg aaatgacagc
      241 ttggaccatg ggcgcccgcg gtctggacaa gcgaggaagt ttctttaagc tcattgacac
      301 aattgcctcg gagatcggag aactgaaaca ggagatggtg cggacagatg tcaacctgga
      361 aaatggcctg gaacccgctg aaacccacag catggtaaga cacaaggatg gtggctattc
      421 cgaggaagag gacgtgaaga cctgtgcccg ggactcaggc tatgacagcc tctccaacag
      481 gctcagcatc ttggaccggc tcctccacac ccaccccata tggctgcagc tgagtctgag
      541 tgaggaggag gcagcagagg tcctgcaggc ccagcctccg gggatcttcc tggttcataa
      601 atctaccaag atgcagaaga aagtcctctc cctccgcctg ccctgtgaat ttggggcccc
      661 actcaaggaa tttgccataa aggaaagcac atacaccttt tccctggaag gctcaggaat
      721 cagtttcgca gatttattcc ggctcattgc tttctactgc atcagcaggg atgttctacc
      781 atttaccttg aagttgcctt atgccatttc aacagccaag tcggaggctc agcttgaaga
      841 actggcccag atgggactaa atttctggag ctccccagct gacagcaaac ccccgaacct
      901 tccacctccc cataggcctc tttcctccga cggtgtctgt cctgcctccc tgcgtcagct
      961 ctgccttata aatggagtgc attctatcaa aaccaggacg ccttcagagc tggagtgcag
     1021 ccagaccaac ggggccctgt gctttattaa tccccttttc ttgaaagtgc acagccagga
     1081 cctcagtgga ggcctgaaac ggccgagcac aaggactccc aacgcgaatg gcacggagcg
     1141 gactcggtcc cccccaccca ggcccccgcc acccgctatt aatagtctcc acacaagccc
     1201 tcggctggcc aggactgaaa cccagacgag catgccagaa acagtcaacc ataacaaaca
     1261 tgggaacgta gctctgcctg gaacgaaacc aactcccatc cctccacccc ggctgaagaa
     1321 gcaggcttct tttctggaag cagagggcgg tgcaaagacc ttgagcggcg gccggccggg
     1381 cgcaggcccg gagctggagc tgggcacagc tggcagccca ggtggggccc cgcctgaggc
     1441 cgccccgggg gattgcacaa gggccccgcc gcccagctct gaatcacggc ccccgtgcca
     1501 tggaggccgg cagcggctga gcgacatgag catttctact tcctcctccg actcgctgga
     1561 gttcgaccgg agcatgcctc tgtttggcta cgaggcggac accaacagca gcctggagga
     1621 ctacgagggg gaaagtgacc aagagaccat ggcgcccccc atcaagtcca aaaagaaaag
     1681 gagcagctcc ttcgtgctgc ccaagctcgt caagtcccag ctgcagaagg tgagcggggt
     1741 gttcagctcc ttcatgaccc cggagaagcg gatggtccgc aggatcgccg agctttcccg
     1801 ggacaaatgc acctacttcg ggtgcttagt gcaggactac gtgagcttcc tgcaggagaa
     1861 caaggagtgc cacgtgtcca gcaccgacat gctgcagacc atccggcagt tcatgaccca
     1921 ggtcaagaac tatttgtctc agagctcgga gctggacccc cccatcgagt cgctgatccc
     1981 tgaagaccaa atagatgtgg tgctggaaaa agccatgcac aagtgcatct tgaagcccct
     2041 caaggggcac gtggaggcca tgctgaagga ctttcacatg gccgatggct catggaagca
     2101 actcaaggag aacctgcagc ttgtgcggca gaggaatccg caggagctgg gggtcttcgc
     2161 cccgacccct gattttgtgg atgtggagaa aatcaaagtc aagttcatga ccatgcagaa
     2221 gatgtattcg ccggaaaaga aggtcatgct gctgctgcgg gtctgcaagc tcatttacac
     2281 ggtcatggag aacaactcag ggaggatgta tggcgctgat gacttcttgc cagtcctgac
     2341 ctatgtcata gcccagtgtg acatgcttga attggacact gaaatcgagt acatgatgga
     2401 gctcctagac ccatcgctgt tacatggaga aggaggctat tacttgacaa gcgcatatgg
     2461 agcactttct ctgataaaga atttccaaga agaacaagca gcgcgactgc tcagctcaga
     2521 aaccagagac accctgaggc agtggcacaa acggagaacc accaaccgga ccatcccctc
     2581 tgtggacgac ttccagaatt acctccgagt tgcatttcag gaggtcaaca gtggttgcac
     2641 aggaaagacc ctccttgtga gaccttacat caccactgag gatgtgtgtc agatctgcgc
     2701 tgagaagttc aaggtggggg accctgagga gtacagcctc tttctcttcg ttgacgagac
     2761 atggcagcag ctggcagagg acacttaccc tcaaaaaatc aaggcggagc tgcacagccg
     2821 accacagccc cacatcttcc actttgtcta caaacgcatc aagaacgatc cttatggcat
     2881 cattttccag aacggggaag aagacctcac cacctcctag aagacaggcg ggacttccca
     2941 gtggtgcatc caaaggggag ctggaagcct tgccttcccg cttctacatg cttgagcttg
     3001 aaaagcagtc acctcctcgg ggacccctca gtgtagtgac taagccatcc acaggccaac
     3061 tcggccaagg gcaactttag ccacgcaagg tagctgaggt ttgtgaaaca gtaggattct
     3121 cttttggcaa tggagaattg catctgatgg ttcaagtgtc ctgagattgt ttgctaccta
     3181 cccccagtca ggttctaggt tggcttacag gtatgtatat gtgcagaaga aacacttaag
     3241 atacaagttc ttttgaattc aacagcagat gcttgcgatg cagtgcgtca ggtgattctc
     3301 actcctgtgg atggcttcat ccctgccttc cttcctttct ttttcctttt tttttttttt
     3361 tttttttttt ttacaaagag ccttcatgtt tttatatatt tcatagaaat ttttatagca
     3421 gttgcaggta aactgtcagg attggtttta aaatattttt gtaactttaa aatattctat
     3481 aattatgcat gtgattttaa catttaatat tcaaaaataa atctcttgct ggatttgaga
     3541 gtattgcatt tttaaagtct ctcttctgta actggatgtt ttggcaactt tgtggggaga
     3601 gactgctgga tttcttaaag caacgtattc ctgacactgg ccacagaatg cctttggaaa
     3661 tcggatgtac tgttctcttg ttcacgttta gtggtgtttt gctgttttgt tttttaaaca
     3721 aatgatgctg agaataagga gagaaatgaa tgtagagaga ggtagagaga gaaatatgaa
     3781 ctctaacaaa ggactgagga gtgcagtctg ctggttcagg ctcttcaaaa gatgtagaaa
     3841 aagagataga aggaaccacc tatgcttaaa atactgtaaa tatgcagtga ggtttggcaa
     3901 aatctattcc atgtgtgatt tgcttgtaga aacaattttg aaagcccctt gaggaaaata
     3961 aaaatcaaga agaacacttt tctccctttt ccatacaaat taaaacttaa cagcatcaaa
     4021 ttattgggac cagaaaccaa gtaatgtata atgtggcttt tgttgagtta aataagatgc
     4081 tatataatgg agaagaattt gaaaatgcac aaaaaaatca atctacatta tcagaacctg
     4141 cagtgaaatt aaacttatgt taaataaaac cagtttgcag gtgcacaaac tatgagggtc
     4201 ttgtatccac gtaacacagg tagttacaaa aacatgttat tgtactgtgt aaagatgcat
     4261 agtcatctca tttggttggc tttgtacctt gtaccttttt tagccttggc ttttgttgaa
     4321 ctagaaccct cagcacatac tgtgttgtac ttttgtaaat gattttttaa atggaatttt
     4381 gcacataata cattgtaata ctgtatgata atcatgtgtg aaaataattt ttgaaatatc
//
