LOCUS       NM_001040456            1721 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript
            variant 1, mRNA.
ACCESSION   NM_001040456 XM_001134436 XM_001134450 XM_001134457
VERSION     NM_001040456.3
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 1721)
  AUTHORS   Ferretti,V.A., Canzoneri,R., Palma,S., Lacunza,E., Aldaz,C.M. and
            Abba,M.C.
  TITLE     RHBDD2-WWOX protein interaction during proliferative and
            differentiated stages in normal and breast cancer cells
  JOURNAL   Oncol Rep 46 (2) (2021)
   PUBMED   34109992
  REMARK    GeneRIF: RHBDD2WWOX protein interaction during proliferative and
            differentiated stages in normal and breast cancer cells.
REFERENCE   2  (bases 1 to 1721)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1721)
  AUTHORS   Palma,S., Raffa,C.I., Garcia-Fabiani,M.B., Ferretti,V.A.,
            Zwenger,A., Perez Verdera,P.V., Llontop,A., Rojas Bilbao,E.,
            Cuartero,V., Abba,M.C. and Lacunza,E.
  TITLE     RHBDD2 overexpression promotes a chemoresistant and invasive
            phenotype to rectal cancer tumors via modulating UPR and focal
            adhesion genes
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1866 (8), 165810 (2020)
   PUBMED   32339641
  REMARK    GeneRIF: RHBDD2 overexpression promotes a chemoresistant and
            invasive phenotype to rectal cancer tumors via modulating UPR and
            focal adhesion genes.
REFERENCE   4  (bases 1 to 1721)
  AUTHORS   Freeman,M.
  TITLE     The rhomboid-like superfamily: molecular mechanisms and biological
            roles
  JOURNAL   Annu Rev Cell Dev Biol 30, 235-254 (2014)
   PUBMED   25062361
  REMARK    Review article
REFERENCE   5  (bases 1 to 1721)
  AUTHORS   Bergbold,N. and Lemberg,M.K.
  TITLE     Emerging role of rhomboid family proteins in mammalian biology and
            disease
  JOURNAL   Biochim Biophys Acta 1828 (12), 2840-2848 (2013)
   PUBMED   23562403
  REMARK    Review article
REFERENCE   6  (bases 1 to 1721)
  AUTHORS   Lemberg,M.K.
  TITLE     Sampling the membrane: function of rhomboid-family proteins
  JOURNAL   Trends Cell Biol 23 (5), 210-217 (2013)
   PUBMED   23369641
  REMARK    Review article
REFERENCE   7  (bases 1 to 1721)
  AUTHORS   Lacunza,E., Canzoneri,R., Rabassa,M.E., Zwenger,A., Segal-Eiras,A.,
            Croce,M.V. and Abba,M.C.
  TITLE     RHBDD2: a 5-fluorouracil responsive gene overexpressed in the
            advanced stages of colorectal cancer
  JOURNAL   Tumour Biol 33 (6), 2393-2399 (2012)
   PUBMED   22965880
  REMARK    GeneRIF: Increased RHBDD2 expression in response to the
            chemotherapy is associated with advanced stages of colorectal
            cancer.
REFERENCE   8  (bases 1 to 1721)
  AUTHORS   Urban,S. and Dickey,S.W.
  TITLE     The rhomboid protease family: a decade of progress on function and
            mechanism
  JOURNAL   Genome Biol 12 (10), 231 (2011)
   PUBMED   22035660
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1721)
  AUTHORS   Abba,M.C., Lacunza,E., Nunez,M.I., Colussi,A., Isla-Larrain,M.,
            Segal-Eiras,A., Croce,M.V. and Aldaz,C.M.
  TITLE     Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene
            over-expressed in breast cancer
  JOURNAL   Biochim Biophys Acta 1792 (10), 988-997 (2009)
   PUBMED   19616622
  REMARK    GeneRIF: RHBDD2 over-expression behaves as an indicator of poor
            prognosis and may play a role facilitating breast cancer
            progression.
REFERENCE   10 (bases 1 to 1721)
  AUTHORS   Puente,X.S., Sanchez,L.M., Overall,C.M. and Lopez-Otin,C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005067.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001040456.2.
            
            Summary: The protein encoded by this gene is a member of the
            rhomboid family of membrane-bound proteases and is overexpressed in
            some breast cancers. Members of this family are involved in
            intramembrane proteolysis. In mouse, the orthologous protein
            associates with the Golgi body. [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.517063.1,
                                           SRR3476690.625516.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000006777.11/ ENSP00000006777.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-227               AC005067.2         77197-77423         c
            228-635             AC005067.2         74221-74628         c
            636-786             AC005067.2         72609-72759         c
            787-1721            AC005067.2         67531-68465         c
FEATURES             Location/Qualifiers
     source          1..1721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..1721
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="rhomboid domain containing 2"
                     /db_xref="GeneID:57414"
                     /db_xref="HGNC:HGNC:23082"
                     /db_xref="MIM:615203"
     exon            1..227
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..1144
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="isoform a is encoded by transcript variant 1;
                     rhomboid domain-containing protein 2; rhomboid,
                     veinlet-like 7"
                     /codon_start=1
                     /product="rhomboid domain-containing protein 2 isoform a"
                     /protein_id="NP_001035546.1"
                     /db_xref="CCDS:CCDS43602.1"
                     /db_xref="GeneID:57414"
                     /db_xref="HGNC:HGNC:23082"
                     /db_xref="MIM:615203"
                     /translation="MAASGPGCRSWCLCPEVPSATFFTALLSLLVSGPRLFLLQQPLA
                     PSGLTLKSEALRNWQVYRLVTYIFVYENPISLLCGAIIIWRFAGNFERTVGTVRHCFF
                     TVIFAIFSAIIFLSFEAVSSLSKLGEVEDARGFTPVAFAMLGVTTVRSRMRRALVFGM
                     VVPSVLVPWLLLGASWLIPQTSFLSNVCGLSIGLAYGLTYCYSIDLSERVALKLDQTF
                     PFSLMRRISVFKYVSGSSAERRAAQSRKLNPVPGSYPTQSCHPHLSPSHPVSQTQHAS
                     GQKLASWPSCTPGHMPTLPPYQPASGLCYVQNHFGPNPTSSSVYPASAGTSLGIQPPT
                     PVNSPGTVYSGALGTPGAAGSKESSRVPMP"
     exon            228..635
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /inference="alignment:Splign:2.1.0"
     exon            636..786
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /inference="alignment:Splign:2.1.0"
     exon            787..1721
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1701..1706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="hexamer: AAGAAA"
     polyA_site      1721
                     /gene="RHBDD2"
                     /gene_synonym="NPD007; RHBDL7"
                     /note="major polyA site"
ORIGIN      
        1 agaggaccgg cagccggcgt cgaggcgggg cgcgggaacg acggcggcca tggcggcctc
       61 ggggcccggg tgtcgcagct ggtgcttgtg tcccgaggtg ccatccgcca ccttcttcac
      121 tgcgctgctc tcgctgctgg tttccgggcc tcgcctgttc ctgctgcagc agcccctggc
      181 gccctcgggc ctcacgctga agtccgaggc ccttcgcaac tggcaagttt acaggctggt
      241 aacctacatc tttgtctacg agaatcccat ctccctgctc tgcggcgcta tcatcatctg
      301 gcgctttgct ggcaatttcg agagaaccgt gggcaccgtc cgccactgct tcttcaccgt
      361 gatcttcgcc atcttctccg ctatcatctt cctgtcattc gaggctgtgt catcactgtc
      421 aaagctgggg gaagtggagg atgccagagg tttcacccca gtggcctttg ccatgctggg
      481 agtcaccacc gtccgttctc ggatgaggcg ggccctggtg tttggcatgg ttgtgccctc
      541 agtcctggtt ccgtggctcc tgctgggtgc ctcgtggctc attccccaga cctctttcct
      601 cagtaatgtc tgcgggctgt ccatcgggct ggcctatggc ctcacctact gctattccat
      661 cgacctctca gagcgagtgg cactgaagct cgatcagacc ttccccttca gcctgatgag
      721 gaggatatcc gtgttcaagt acgtctcagg gtcttcagcc gagaggaggg cagcccagag
      781 ccggaaactg aacccggtgc ctggctccta ccccacacag agctgccacc ctcacctgtc
      841 cccaagccac cctgtgtccc agacgcagca cgccagtggt cagaagctgg cctcctggcc
      901 ctcctgcacc cccgggcaca tgcccacctt gcctccgtac cagcctgcct ccggcctgtg
      961 ctatgtgcag aaccactttg gtccaaaccc cacctcctcc agtgtctacc cagcttctgc
     1021 gggcacctcc ctgggcatcc agccccccac gcctgtgaac agccctggca cggtgtattc
     1081 tggggccttg ggcacaccag gggctgcagg ctccaaggag tcctccaggg tccccatgcc
     1141 ctgagagaat ttctagggaa gtcatctcac ttggccttct gaaggtcctc cctaagagtc
     1201 tcctgacaaa agttacttat tgaacacctc tatgtgccag gctctgtgtt gggtactttg
     1261 atcaatgccc ctgtttcagt ctcatctgta ctcacggcag ccctgtggag tacggtgtac
     1321 tggcccagct tacagatgca gaaagcgaga cgttctgcca tcagataaag tcacgtggct
     1381 ctttagtaac acggacaagg ctcctcgcca aggaactcgt ggcagaagag ggcagcagtt
     1441 ggcagtagct gccgatgtct gtccccagct ccaccattcc tccctgtggc tgtgccgtgc
     1501 tcgtggtttc agtgtccgtg tgtccatgtg tctgcccttc aggagctcgc agctggtgtg
     1561 cttggcggtc ccaggcctgt gtagtgtctc tcccctgctg cgggcgcccc caccccgatt
     1621 cctctcccca gaagcggtgg gatgggcccc catgaactgc agcagcatgc tgaggtgtcc
     1681 atgttgtctg cctttgtata aagaaacagc ctctgacctg c
//
