AEBP2

AE binding protein 2, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:19404044-19720801

Links

ENSG00000139154 ∙ NCBI:121536 ∙ OMIM:617934 ∙ HGNC:24051 ∙ Uniprot:Q6ZN18 ∙ 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 AEBP2 gene.

• Inborn genetic diseases (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AEBP2 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in AEBP2

This is a list of pathogenic ClinVar variants found in the AEBP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-19439709-G-T		not specified	Uncertain significance (Jan 02, 2024)
12-19439718-G-T		not specified	Uncertain significance (Jan 03, 2024)
12-19439746-G-C		not specified	Uncertain significance (Oct 06, 2022)
12-19439760-C-T		not specified	Uncertain significance (May 24, 2023)
12-19439763-C-G		not specified	Uncertain significance (Jul 25, 2023)
12-19439767-G-C		not specified	Uncertain significance (Jan 31, 2024)
12-19439796-G-C		not specified	Uncertain significance (Nov 06, 2023)
12-19439805-C-G		not specified	Uncertain significance (May 09, 2022)
12-19439811-G-A		not specified	Uncertain significance (Nov 22, 2021)
12-19439830-A-C		not specified	Uncertain significance (May 17, 2023)
12-19439833-A-G		not specified	Uncertain significance (Dec 19, 2022)
12-19439896-G-A		not specified	Uncertain significance (Sep 30, 2021)
12-19439947-C-G		not specified	Uncertain significance (Apr 26, 2023)
12-19439990-A-C		not specified	Uncertain significance (Feb 21, 2024)
12-19440002-G-C		not specified	Likely benign (Aug 02, 2022)
12-19440005-C-G		not specified	Uncertain significance (Apr 07, 2022)
12-19440022-A-C		not specified	Uncertain significance (Mar 20, 2023)
12-19440037-G-A		not specified	Uncertain significance (Dec 08, 2023)
12-19440102-G-T		not specified	Uncertain significance (Apr 26, 2023)
12-19440118-T-G		not specified	Uncertain significance (Jun 29, 2022)
12-19440152-T-A		not specified	Uncertain significance (Oct 03, 2022)
12-19440230-C-G		not specified	Uncertain significance (Sep 01, 2021)
12-19440267-G-C		not specified	Uncertain significance (Aug 12, 2021)
12-19440304-G-A		not specified	Uncertain significance (May 26, 2022)
12-19462544-A-G		not specified	Uncertain significance (Nov 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AEBP2	protein_coding	protein_coding	ENST00000398864	9	316757

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000787	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.21	135	229	0.589	0.0000117	3361
Missense in Polyphen		7	54.217	0.12911		740
Synonymous	-1.19	94	80.4	1.17	0.00000402	956
Loss of Function	4.21	0	20.7	0.00	0.00000129	270

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DNA-binding transcriptional repressor. May interact with and stimulate the activity of the PRC2 complex, which methylates 'Lys-9' and 'Lys-27' residues of histone H3. {ECO:0000269|PubMed:15225548}.
• Pathway: Histone Modifications;Mesodermal Commitment Pathway;Interactome of polycomb repressive complex 2 (PRC2);Epigenetic regulation of gene expression;Gene expression (Transcription);PKMTs methylate histone lysines;Chromatin modifying enzymes;Chromatin organization;PRC2 methylates histones and DNA (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.121
• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• pHI: 0.832
• hipred: Y
• hipred_score: 0.851
• ghis: 0.682

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.993

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aebp2
• Phenotype: pigmentation 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); digestive/alimentary phenotype; limbs/digits/tail phenotype; growth/size/body region 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)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;chromatin organization;negative regulation of gene expression, epigenetic
• Cellular component: nucleus;nucleoplasm;ESC/E(Z) complex
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;transcription corepressor activity;metal ion binding