CREB5

cAMP responsive element binding protein 5, the group of Basic leucine zipper proteins

Basic information

Region (hg38): 7:28299320-28825894

Links

ENSG00000146592 ∙ NCBI:9586 ∙ OMIM:618262 ∙ HGNC:16844 ∙ Uniprot:Q02930 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CREB5 gene.

• Inborn genetic diseases (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CREB5 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in CREB5

This is a list of pathogenic ClinVar variants found in the CREB5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-28492846-G-T		Vascular endothelial growth factor (VEGF) inhibitor response	association (-)
7-28494906-C-T		not specified	Uncertain significance (Dec 15, 2023)
7-28570372-C-T		not specified	Uncertain significance (Feb 15, 2023)
7-28570402-C-T		not specified	Uncertain significance (Sep 12, 2023)
7-28570410-G-A		not specified	Uncertain significance (Aug 01, 2022)
7-28570438-T-A		not specified	Uncertain significance (May 23, 2023)
7-28570445-C-G		not specified	Uncertain significance (Feb 01, 2023)
7-28570486-C-T		not specified	Uncertain significance (Dec 09, 2023)
7-28570494-A-T		not specified	Uncertain significance (Jan 23, 2024)
7-28570527-C-T		not specified	Uncertain significance (Aug 17, 2021)
7-28724229-G-A		not specified	Uncertain significance (Dec 19, 2023)
7-28724292-C-A		not specified	Uncertain significance (Feb 09, 2023)
7-28724312-A-G		not specified	Uncertain significance (Aug 10, 2023)
7-28804250-A-G		not specified	Uncertain significance (Feb 22, 2023)
7-28804281-T-C		not specified	Uncertain significance (Dec 05, 2022)
7-28804290-G-A		not specified	Uncertain significance (Apr 11, 2023)
7-28804329-C-T		not specified	Uncertain significance (Oct 25, 2023)
7-28804386-C-T		not specified	Uncertain significance (Dec 28, 2023)
7-28804403-C-A		not specified	Uncertain significance (Jul 20, 2022)
7-28809250-G-T		not specified	Uncertain significance (Mar 13, 2023)
7-28809257-G-T		not specified	Uncertain significance (Dec 14, 2022)
7-28809352-G-T		not specified	Uncertain significance (Jan 23, 2024)
7-28818111-A-G		not specified	Uncertain significance (Feb 27, 2024)
7-28819214-G-A		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CREB5	protein_coding	protein_coding	ENST00000357727	11	526572

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.223	0.777	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	230	310	0.742	0.0000177	3390
Missense in Polyphen		47	73.847	0.63645		825
Synonymous	0.181	112	114	0.979	0.00000716	955
Loss of Function	3.48	6	24.7	0.243	0.00000114	272

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000593	0.0000593
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000140	0.000139
European (Non-Finnish)	0.0000355	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to the cAMP response element and activates transcription. {ECO:0000269|PubMed:8378084}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Cortisol synthesis and secretion - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Aldosterone synthesis and secretion - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Insulin resistance - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Thyroid hormone synthesis - Homo sapiens (human);Vasopressin-regulated water reabsorption - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Glucagon signaling pathway - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis B - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway (Consensus)

Intolerance Scores

• loftool: 0.217
• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.62

Haploinsufficiency Scores

• pHI: 0.776
• hipred: Y
• hipred_score: 0.746
• ghis: 0.574

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.883

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Creb5
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;positive regulation of transcription, DNA-templated
• Cellular component: nucleus;extracellular exosome
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding;metal ion binding