• Gene id: 64764

Gene Summary

• Gene Symbol: CREB3L2   Gene   UCSC   Ensembl
• Aliases: BBF2H7
• Gene name: cAMP responsive element binding protein 3 like 2
• Alternate names: cyclic AMP-responsive element-binding protein 3-like protein 2, 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,
• Gene location: 7q33 (138002085: 137874978)     Exons: 14     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 608834

Protein Summary

• Protein general information: Q70SY1  
  • Name: Cyclic AMP responsive element binding protein 3 like protein 2 (cAMP responsive element binding protein 3 like protein 2) (BBF2 human homolog on chromosome 7) [Cleaved into: Processed cyclic AMP responsive element binding protein 3 like protein 2]
  • Length: 520  
  • Mass: 57415
  • Tissue specificity: Widely expressed with highest levels in placenta, lung, spleen and intestine, and lowest levels in heart, brain, skeletal muscle, thymus, colon and leukocytes. In fetal tissues, the weakest expression is detected in brain and heart. {E
• Sequence:

  MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTHFSELLDEFSQNVLGQLLNDPFLSEKSVSMEVEPSPTSPAP
  LIQAEHSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVTLTITAIS
  TPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEAPVDHLHLPPTPPSSHGSDSEGSLSPNPRLH
  PFSLPQTHSPSRAAPRAPSALSSSPLLTAPHKLQGSGPLVLTEEEKRTLIAEGYPIPTKLPLSKSEEKALKKIRR
  KIKNKISAQESRRKKKEYMDSLEKKVESCSTENLELRKKVEVLENTNRTLLQQLQKLQTLVMGKVSRTCKLAGTQ
  TGTCLMVVVLCFAVAFGSFFQGYGPYPSATKMALPSQHSLQEPYTASVVRSRNLLIYEEHSPPEESSSPGSAGEL
  GGWDRGSSLLRVSGLESRPDVDLPHFIISNETSLEKSVLLELQQHLVSAKLEGNETLKVVELDRRVNTTF

• Structural information:
  • Protein Domains: (294..35-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR029804  IPR004827  
  • Prosite: PS50217 PS00036
  • STRING: ENSP00000329140
• Other Databases: GeneCards:  CREB3L2  Malacards:  CREB3L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0035497	cAMP response element binding	IBA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0051216	cartilage development	ISS	biological process
GO:0002062	chondrocyte differentiation	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0035497	cAMP response element binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0097038	perinuclear endoplasmic reticulum	IEA	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0035497	cAMP response element binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000785	chromatin	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IEP	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0035497	cAMP response element binding	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05016	Huntington disease
hsa05165	Human papillomavirus infection
hsa04714	Thermogenesis
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05034	Alcoholism
hsa05203	Viral carcinogenesis
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa05161	Hepatitis B
hsa04728	Dopaminergic synapse
hsa04926	Relaxin signaling pathway
hsa04725	Cholinergic synapse
hsa04152	AMPK signaling pathway
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04922	Glucagon signaling pathway
hsa04916	Melanogenesis
hsa04668	TNF signaling pathway
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04931	Insulin resistance
hsa04911	Insulin secretion
hsa04211	Longevity regulating pathway
hsa04918	Thyroid hormone synthesis
hsa05215	Prostate cancer
hsa05031	Amphetamine addiction
hsa04927	Cortisol synthesis and secretion
hsa05030	Cocaine addiction
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray