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2025-05-09 17:18:22, 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 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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@meso_cacase at
DBCLS
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