CREBL2

cAMP responsive element binding protein like 2, the group of Basic leucine zipper proteins

Basic information

Region (hg38): 12:12611826-12645108

Links

ENSG00000111269 ∙ NCBI:1389 ∙ OMIM:603476 ∙ HGNC:2350 ∙ Uniprot:O60519 ∙ 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 CREBL2 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CREBL2 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in CREBL2

This is a list of pathogenic ClinVar variants found in the CREBL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-12612183-G-C		not specified	Uncertain significance (Feb 16, 2023)
12-12635804-G-A		not specified	Uncertain significance (Feb 10, 2023)
12-12635933-C-T			Likely pathogenic (Mar 26, 2024)
12-12635951-G-T		not specified	Uncertain significance (Jan 31, 2023)
12-12637591-A-G		not specified	Uncertain significance (Jul 12, 2022)
12-12637597-C-A		not specified	Uncertain significance (Jun 18, 2021)
12-12637696-G-C		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CREBL2	protein_coding	protein_coding	ENST00000228865	4	33282

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.722	0.276	125726	0	2	125728	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.50	32	66.3	0.483	0.00000364	783
Missense in Polyphen		6	26.123	0.22968		323
Synonymous	0.817	16	20.7	0.772	9.78e-7	212
Loss of Function	2.39	1	8.53	0.117	6.11e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000905	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor. {ECO:0000269|PubMed:9693048}.

Recessive Scores

• pRec: 0.137

Intolerance Scores

• rvis_EVS: 0.1
• rvis_percentile_EVS: 60.96

Haploinsufficiency Scores

• pHI: 0.499
• hipred: N
• hipred_score: 0.439
• ghis: 0.642

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Crebl2

Gene ontology

• Biological process: transcription, DNA-templated;regulation of transcription by RNA polymerase II;cell cycle;signal transduction;cell differentiation;positive regulation of peptidyl-serine phosphorylation;positive regulation of fat cell differentiation;positive regulation of transcription, DNA-templated;positive regulation of glucose import;positive regulation of lipid biosynthetic process;protein stabilization
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity