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2019-03-25 15:00:30, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001253775            1175 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens cAMP responsive element binding protein 3-like 2
            (CREB3L2), transcript variant 2, mRNA.
ACCESSION   NM_001253775
VERSION     NM_001253775.1  GI:359339004
KEYWORDS    RefSeq.
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 1175)
  AUTHORS   Ishikura-Kinoshita,S., Saeki,H. and Tsuji-Naito,K.
  TITLE     BBF2H7-mediated Sec23A pathway is required for endoplasmic
            reticulum-to-Golgi trafficking in dermal fibroblasts to promote
            collagen synthesis
  JOURNAL   J. Invest. Dermatol. 132 (8), 2010-2018 (2012)
   PUBMED   22495181
  REMARK    GeneRIF: the BBF2H7-mediated Sec23A pathway is required for
            ER-to-Golgi procollagen trafficking to promote collagen synthesis
REFERENCE   2  (bases 1 to 1175)
  AUTHORS   Moller,E., Hornick,J.L., Magnusson,L., Veerla,S., Domanski,H.A. and
            Mertens,F.
  TITLE     FUS-CREB3L2/L1-positive sarcomas show a specific gene expression
            profile with upregulation of CD24 and FOXL1
  JOURNAL   Clin. Cancer Res. 17 (9), 2646-2656 (2011)
   PUBMED   21536545
  REMARK    GeneRIF: FUS-CREB3L2/L1-positive sarcomas show a specific gene
            expression profile with upregulation of CD24 and FOXL1.
REFERENCE   3  (bases 1 to 1175)
  AUTHORS   Fox,R.M., Hanlon,C.D. and Andrew,D.J.
  TITLE     The CrebA/Creb3-like transcription factors are major and direct
            regulators of secretory capacity
  JOURNAL   J. Cell Biol. 191 (3), 479-492 (2010)
   PUBMED   21041443
  REMARK    GeneRIF: The human Creb3L2 can activate SPCG transcription in a
            heterologous system(Drosophila embryos), which suggests a general
            and direct role for this family of bZip transcription factors in
            mediating high-level secretory capacity.
REFERENCE   4  (bases 1 to 1175)
  AUTHORS   Panagopoulos,I., Monsef,N., Collin,A. and Mertens,F.
  TITLE     Characterization of an alternative transcript of the human CREB3L2
            gene
  JOURNAL   Oncol. Rep. 24 (5), 1133-1139 (2010)
   PUBMED   20878102
  REMARK    GeneRIF: We characterized a widely expressed transcript of CREB3L2
            generated by an intronic polyadenylation site in intron 4 of the
            gene.
REFERENCE   5  (bases 1 to 1175)
  AUTHORS   Bartuma,H., Moller,E., Collin,A., Domanski,H.A., Von Steyern,F.V.,
            Mandahl,N. and Mertens,F.
  TITLE     Fusion of the FUS and CREB3L2 genes in a supernumerary ring
            chromosome in low-grade fibromyxoid sarcoma
  JOURNAL   Cancer Genet. Cytogenet. 199 (2), 143-146 (2010)
   PUBMED   20471519
  REMARK    GeneRIF: Fusion of the FUS and CREB3L2 genes in a supernumerary
            ring chromosome is associated with low-grade fibromyxoid sarcoma.
REFERENCE   6  (bases 1 to 1175)
  AUTHORS   Lui,W.O., Zeng,L., Rehrmann,V., Deshpande,S., Tretiakova,M.,
            Kaplan,E.L., Leibiger,I., Leibiger,B., Enberg,U., Hoog,A.,
            Larsson,C. and Kroll,T.G.
  TITLE     CREB3L2-PPARgamma fusion mutation identifies a thyroid signaling
            pathway regulated by intramembrane proteolysis
  JOURNAL   Cancer Res. 68 (17), 7156-7164 (2008)
   PUBMED   18757431
  REMARK    GeneRIF: findings identify a novel CREB3L2-PPARgamma gene fusion
            mutation in thyroid carcinoma and reveal a thyroid signaling
            pathway that is regulated by intramembrane proteolysis and
            disrupted in cancer
REFERENCE   7  (bases 1 to 1175)
  AUTHORS   Guillou,L., Benhattar,J., Gengler,C., Gallagher,G.,
            Ranchere-Vince,D., Collin,F., Terrier,P., Terrier-Lacombe,M.J.,
            Leroux,A., Marques,B., Aubain Somerhausen Nde,S., Keslair,F.,
            Pedeutour,F. and Coindre,J.M.
  TITLE     Translocation-positive low-grade fibromyxoid sarcoma:
            clinicopathologic and molecular analysis of a series expanding the
            morphologic spectrum and suggesting potential relationship to
            sclerosing epithelioid fibrosarcoma: a study from the French
            Sarcoma Group
  JOURNAL   Am. J. Surg. Pathol. 31 (9), 1387-1402 (2007)
   PUBMED   17721195
  REMARK    GeneRIF: Presence of FUS/CREB3L2 and FUS/CREB3L1 in low-grade
            fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma
            suggests these neoplasms may be related.
REFERENCE   8  (bases 1 to 1175)
  AUTHORS   Kondo,S., Saito,A., Hino,S., Murakami,T., Ogata,M., Kanemoto,S.,
            Nara,S., Yamashita,A., Yoshinaga,K., Hara,H. and Imaizumi,K.
  TITLE     BBF2H7, a novel transmembrane bZIP transcription factor, is a new
            type of endoplasmic reticulum stress transducer
  JOURNAL   Mol. Cell. Biol. 27 (5), 1716-1729 (2007)
   PUBMED   17178827
  REMARK    GeneRIF: BBF2H7, a novel transmembrane bZIP transcription factor,
            is a new type of endoplasmic reticulumm stress transducer.
REFERENCE   9  (bases 1 to 1175)
  AUTHORS   Panagopoulos,I., Moller,E., Dahlen,A., Isaksson,M., Mandahl,N.,
            Vlamis-Gardikas,A. and Mertens,F.
  TITLE     Characterization of the native CREB3L2 transcription factor and the
            FUS/CREB3L2 chimera
  JOURNAL   Genes Chromosomes Cancer 46 (2), 181-191 (2007)
   PUBMED   17117415
  REMARK    GeneRIF: CREB3L2 is not only structurally, but also functionally
            very similar to CREB3L1.
REFERENCE   10 (bases 1 to 1175)
  AUTHORS   Storlazzi,C.T., Mertens,F., Nascimento,A., Isaksson,M., Wejde,J.,
            Brosjo,O., Mandahl,N. and Panagopoulos,I.
  TITLE     Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma
  JOURNAL   Hum. Mol. Genet. 12 (18), 2349-2358 (2003)
   PUBMED   12915480
  REMARK    GeneRIF: BBF2H7 was fused with FUS in a low grade myxoid
            liposarcoma.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN394705.1, BC063666.1 and AC022173.7.
            
            Summary: This gene encodes a member of the oasis bZIP transcription
            factor family. Members of this family can dimerize but form
            homodimers only. The encoded protein is a transcriptional
            activator. Translocations between this gene on chromosome 7 and the
            gene fused in sarcoma on chromosome 16 can be found in some tumors.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) differs in the 3' coding
            region and UTR compared to variant 1. The resulting protein
            (isoform 2) is shorter and has a distinct C-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 :: BC063666.1, BX355030.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                CN394705.1         2-55
            55-694              BC063666.1         1-640
            695-697             AC022173.7         42127-42129
            698-1175            BC063666.1         641-1118
FEATURES             Location/Qualifiers
     source          1..1175
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..1175
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /note="cAMP responsive element binding protein 3-like 2"
                     /db_xref="GeneID:64764"
                     /db_xref="HGNC:23720"
                     /db_xref="MIM:608834"
     exon            1..498
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(21)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:150716902"
     variation       complement(27)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:141156737"
     variation       complement(108)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:62488320"
     variation       complement(164)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:187870009"
     misc_feature    364..366
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /note="upstream in-frame stop codon"
     CDS             397..1143
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /note="isoform 2 is encoded by transcript variant 2;
                     TCAG_1951439; basic transcription factor 2; cyclic
                     AMP-responsive element-binding protein 3-like protein 2;
                     B-ZIB transcription factor; FUS/BBF2H7 protein; BBF2 human
                     homolog on chromosome 7; cAMP-responsive element-binding
                     protein 3-like protein 2"
                     /codon_start=1
                     /product="cyclic AMP-responsive element-binding protein
                     3-like protein 2 isoform 2"
                     /protein_id="NP_001240704.1"
                     /db_xref="GI:359339005"
                     /db_xref="CCDS:CCDS59083.1"
                     /db_xref="GeneID:64764"
                     /db_xref="HGNC:23720"
                     /db_xref="MIM:608834"
                     /translation="
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTHFSELLDEFSQNVLGQLLNDPFLSEKSVSMEVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVTLTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEGLSALPVSLWVMDMVSGSTEREYGERAGMSLYHRCCSWLYEIALFLKNKNFASK
"
     misc_feature    967..969
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q70SY1.3); phosphorylation site"
     variation       complement(442)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182150690"
     variation       complement(482)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369713762"
     variation       complement(488)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:147545797"
     variation       complement(495)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200047104"
     exon            499..715
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(520)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201913769"
     variation       complement(534)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143308760"
     variation       complement(583)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138695092"
     variation       complement(605)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150075833"
     variation       complement(606)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368188380"
     variation       complement(608)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376071481"
     variation       complement(612)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140782633"
     variation       complement(615)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146953741"
     variation       complement(618)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143562600"
     variation       complement(654)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370106999"
     variation       complement(655)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377031866"
     variation       complement(664)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199993400"
     variation       complement(675)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140359406"
     variation       complement(684)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201782940"
     variation       complement(691..693)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace=""
                     /replace="acc"
                     /db_xref="dbSNP:72584721"
     variation       complement(694..696)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace=""
                     /replace="acc"
                     /db_xref="dbSNP:3217268"
     variation       complement(695..697)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace=""
                     /replace="cca"
                     /db_xref="dbSNP:66593747"
     variation       complement(696)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace=""
                     /replace="acc"
                     /db_xref="dbSNP:75460863"
     exon            716..891
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(716)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115655218"
     variation       complement(735)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143530987"
     variation       complement(784)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:273957"
     variation       complement(792)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145713623"
     variation       complement(793)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200109348"
     variation       complement(811)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201136941"
     variation       complement(816)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147928164"
     variation       complement(830)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376931481"
     variation       complement(848)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201981192"
     variation       complement(891)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139796301"
     exon            892..1159
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /inference="alignment:Splign:1.39.8"
     STS             892..1096
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /standard_name="STS-N24079"
                     /db_xref="UniSTS:1425"
     variation       complement(903)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370226323"
     variation       complement(931)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150647615"
     variation       complement(933)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138740289"
     variation       complement(951)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372027874"
     variation       complement(989)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368905819"
     variation       complement(991)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368376398"
     variation       complement(996)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367925068"
     variation       complement(1094)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:143177845"
     variation       complement(1143)
                     /gene="CREB3L2"
                     /gene_synonym="BBF2H7"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112830194"
ORIGIN      
gctgggtcctggagcagagccgaggagccctggggtccctcaaagtttgtgtctggagccgtagcggcaagtgggcttgcggctaagggattttcctgggatgagagcgggtcttctgccttcattttggatgcacatcccgctttagccccggcagcctttggtccggctcgtgtccctggggattctcggatctccgaggacaccggacgggagcgcttggccatcctctctccggcagaggagcagacgtttgctttccaagtgcaaaactacagacacgcgcgcgcacacacgcaagcacacgcggagagagaggaaccttgccggtccgaggcagctctgcgcgtcccctcctgcgcttagcatcctcggcccagcgcggcccgcaccgccatggaggtgctggagagcggggagcagggcgtgctgcagtgggaccgcaagctgagcgagctgtcagagcccggggacggcgaggccctcatgtaccacacgcacttctcagaacttctggatgagttttcccagaacgtcttgggtcagctcctgaatgatcctttcctctcagagaagagtgtgtcaatggaggtggaaccttccccgacgtccccggcgcctctcatccaggctgagcacagctactccctgtgcgaggagcctcgggcccagtcgcccttcacccacattaccaccagtgacagcttcaatgacgatgaggtggaaagtgagaaatggtacctgtctacagacttcccttcaacatccatcaagacagagccagttacagacgaaccacccccaggactcgttccgtctgtcactctgaccatcacagccatctccaccccgttggaaaaggaggaacctcctctggaaatgaacactggggttgattcctcgtgccagaccattattcctaaaattaagctggagcctcatgaagtggatcagtttctaaacttctctcctaaagaaggtctgtctgccctccctgtgtccctttgggttatggatatggtctctgggtctacagagagggaatatggcgagagagctgggatgagtttgtaccacagatgttgtagctggctttatgaaatagctctgttcttaaaaaataaaaattttgcttccaaataaaaattttgcaagctaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:64764 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:64764 -> Molecular function: GO:0035497 [cAMP response element binding] evidence: IMP
            GeneID:64764 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:64764 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IMP
            GeneID:64764 -> Biological process: GO:0002062 [chondrocyte differentiation] evidence: ISS
            GeneID:64764 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:64764 -> Biological process: GO:0006888 [ER to Golgi vesicle-mediated transport] evidence: IEA
            GeneID:64764 -> Biological process: GO:0006986 [response to unfolded protein] evidence: IEA
            GeneID:64764 -> Biological process: GO:0034976 [response to endoplasmic reticulum stress] evidence: IEP
            GeneID:64764 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:64764 -> Biological process: GO:0051216 [cartilage development] evidence: ISS
            GeneID:64764 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:64764 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
            GeneID:64764 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA
            GeneID:64764 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA

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