CREB3L2 cAMP responsive element binding protein 3 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CREB3L2provided by HGNC
Official Full Name: cAMP responsive element binding protein 3 like 2provided by HGNC
Primary source: HGNC:HGNC:23720
See related: Ensembl:ENSG00000182158 MIM:608834; AllianceGenome:HGNC:23720
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BBF2H7
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]
Expression: Ubiquitous expression in thyroid (RPKM 36.0), placenta (RPKM 17.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (137874979..138002086, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (139184080..139311621, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (137559725..137686832, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single-cell analysis reveals androgen receptor regulates the ER-to-Golgi trafficking pathway with CREB3L2 to drive prostate cancer progression.
Title: Single-cell analysis reveals androgen receptor regulates the ER-to-Golgi trafficking pathway with CREB3L2 to drive prostate cancer progression.
MicroRNA-92b-3p promotes the progression of liver fibrosis by targeting CREB3L2 through the JAK/STAT signaling pathway.
Title: MicroRNA-92b-3p promotes the progression of liver fibrosis by targeting CREB3L2 through the JAK/STAT signaling pathway.
Comparative Analysis of CREB3 and CREB3L2 Protein Expression in HEK293 Cells.
Title: Comparative Analysis of CREB3 and CREB3L2 Protein Expression in HEK293 Cells.
found BBF2H7-derived small peptide fragments located between the site-1 protease and site-1 protease cleavage sites in cells exposed to ER stress
Title: Production of BBF2H7-derived small peptide fragments via endoplasmic reticulum stress-dependent regulated intramembrane proteolysis.
Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII.
Title: Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII.
UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific manner.
Title: UPR transducer BBF2H7 allows export of type II collagen in a cargo- and developmental stage-specific manner.
These data suggest that the secreted luminal BBF2H7 C-terminus is involved in Hedgehog ligand-dependent cancer cell proliferation through activation of Hedgehog signaling. BBF2H7 C-terminus may be a novel target for the development of anticancer drugs.
Title: Promotion of Cancer Cell Proliferation by Cleaved and Secreted Luminal Domains of ER Stress Transducer BBF2H7.
Fbxw7 controls osteogenesis and chondrogenesis by targeting OASIS and BBF2H7, respectively, for degradation.
Title: F-box and WD repeat domain-containing-7 (Fbxw7) protein targets endoplasmic reticulum-anchored osteogenic and chondrogenic transcriptional factors for degradation.
the BBF2H7-mediated Sec23A pathway is required for ER-to-Golgi procollagen trafficking to promote collagen synthesis
Title: BBF2H7-mediated Sec23A pathway is required for endoplasmic reticulum-to-Golgi trafficking in dermal fibroblasts to promote collagen synthesis.
FUS-CREB3L2/L1-positive sarcomas show a specific gene expression profile with upregulation of CD24 and FOXL1.
Title: FUS-CREB3L2/L1-positive sarcomas show a specific gene expression profile with upregulation of CD24 and FOXL1.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1318288 (e-PCR)
- UniSTS:35920

D7S737 (e-PCR)
- UniSTS:29065

STS-N24079 (e-PCR)
- UniSTS:1425

GDB:4585629 (e-PCR)
- UniSTS:76693

G20729 (e-PCR)
- UniSTS:9879

A006D34 (e-PCR)
- UniSTS:9880

SHGC-32616 (e-PCR)
- UniSTS:59321

D7S2910 (e-PCR)
- UniSTS:62393

SHGC-132011 (e-PCR)
- UniSTS:184513

SHGC-37420 (e-PCR)
- UniSTS:6850

D7S1898 (e-PCR)
- UniSTS:40408

SHGC-52613 (e-PCR)
- UniSTS:8153

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables cAMP response element binding	IBA Inferred from Biological aspect of Ancestor more info
enables cAMP response element binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables transcription cis-regulatory region binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cartilage development	ISS Inferred from Sequence or Structural Similarity more info
involved_in chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to endoplasmic reticulum stress	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cyclic AMP-responsive element-binding protein 3-like protein 2

Names: B-ZIB transcription factor; BBF2 human homolog on chromosome 7; FUS/BBF2H7 protein; TCAG_1951439; basic transcription factor 2; cAMP-responsive element-binding protein 3-like protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001253775.2 → NP_001240704.1 cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 2

Status: VALIDATED

Description

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.

Source sequence(s)

AC022173, BC063666, CN394705

Consensus CDS

CCDS59083.1

UniProtKB/TrEMBL

Q86VD4

Related

ENSP00000410314.1, ENST00000452463.5
NM_001318246.2 → NP_001305175.1 cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate 5'-terminal exon and a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL080209, BC015585, BX649143, CR749563

UniProtKB/TrEMBL

A8KAI3

Conserved Domains (1) summary

cd14689
Location:242 → 285

bZIP_CREB3; Basic leucine zipper (bZIP) domain of Cyclic AMP-responsive element-binding protein 3 (CREB3) and similar proteins: a DNA-binding and dimerization domain
NM_194071.4 → NP_919047.2 cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 1

See identical proteins and their annotated locations for NP_919047.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC022173, AK131517, BQ711676, BX649143, CR749563

Consensus CDS

CCDS34760.1

UniProtKB/Swiss-Prot

Q6P454, Q6ZMR6, Q70SY1

UniProtKB/TrEMBL

A8KAI3

Related

ENSP00000329140.6, ENST00000330387.11

Conserved Domains (1) summary

cd14689
Location:305 → 348

bZIP_CREB3; Basic leucine zipper (bZIP) domain of Cyclic AMP-responsive element-binding protein 3 (CREB3) and similar proteins: a DNA-binding and dimerization domain