Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	84699
Gene name	CAMP responsive element binding protein 3 like 3
Gene symbol	CREB3L3
Synonyms (NCBI Gene)	CREB-HCREBHHYST1481HYTG2
Chromosome	19
Chromosome location	19p13.3
Summary	This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The enco

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments
MIRT1969371	hsa-miR-3120-5p	CLIP-seq
MIRT2205501	hsa-miR-2467-3p	CLIP-seq
MIRT2205502	hsa-miR-2861	CLIP-seq
MIRT2205503	hsa-miR-3184	CLIP-seq
MIRT2205504	hsa-miR-3192	CLIP-seq
MIRT2205505	hsa-miR-423-5p	CLIP-seq
MIRT2205506	hsa-miR-4300	CLIP-seq
MIRT2205507	hsa-miR-4540	CLIP-seq
MIRT2205508	hsa-miR-661	CLIP-seq
MIRT2205509	hsa-miR-920	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	16469704
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11353085
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11353085
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	11353085
GO:0002675	Process	Positive regulation of acute inflammatory response	NAS	16469704
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	16469704, 20102225, 23661758, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16469704
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	16236796, 16469704
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	16469704
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0042802	Function	Identical protein binding	IPI	20102225, 23661758
GO:0042803	Function	Protein homodimerization activity	IPI	16469704
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16469704
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11353085
GO:0046982	Function	Protein heterodimerization activity	IPI	16469704

MIM	HGNC	e!Ensembl
611998	18855	ENSG00000060566

Q68CJ9

Protein name

Cyclic AMP-responsive element-binding protein 3-like protein 3 (cAMP-responsive element-binding protein 3-like protein 3) (Transcription factor CREB-H) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like protein 3]

Protein function

Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activate

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00170	bZIP_1	241 → 304	bZIP transcription factor	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Exclusively expressed in liver. Underexpressed in hepatocellular carcinoma tissues. {ECO:0000269|PubMed:11353085, ECO:0000269|PubMed:15800215}.

Sequence

MNTDLAAGKMASAACSMDPIDSFELLDLLFDRQDGILRHVELGEGWGHVKDQQVLPNPDS
DDFLSSILGSGDSLPSSPLWSPEGSDSGISEDLPSDPQDTPPRSGPATSPAGCHPAQPGK
GPCLSYHPGNSCSTTTPGPVIQVPEASVTIDLEMWSPGGRICAEKPADPVDLSPRCNLTV
KDLLLSGSSGDLQQHHLGASYLLRPGAGHCQELVLTEDEKKLLAKEGITLPTQLPLTKYE
ERVLKKIRRKIRNKQSAQESRKKKKEYIDGLETRMSACTAQNQELQRKVLHLEKQNLSLL
EQLKKLQAIVVQSTSKSAQTGTCVAVLLLSFALIILPSISPFGPNKTESPGDFAPVRVFS
RTLHNDAASRVAADAVPGSEAPGPRPEADTTREESPGSPGADWGFQDTANLTNSTEELDN
ATLVLRNATEGLGQVALLDWVAPGPSTGSGRAGLEAAGDEL

Sequence length

461

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypertriglyceridemia 2	Likely pathogenic; Pathogenic	rs912378886, rs2145120326	RCV001450096 RCV001450097	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREB3L3-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic kinesigenic dyskinesia 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertriglyceridemia 1	Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	LHGDN	12039695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29738435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29738435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37880674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	28455595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	22135386, 32580631, 39562229	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	15800215, 25428452, 30516846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	39562229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24598141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34930465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CREB3L3 (cAMP responsive element binding protein 3 like 3)