PAIP2B

poly(A) binding protein interacting protein 2B

Basic information

Region (hg38): 2:71182738-71227103

Links

ENSG00000124374 ∙ NCBI:400961 ∙ OMIM:611018 ∙ HGNC:29200 ∙ Uniprot:Q9ULR5 ∙ 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 PAIP2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAIP2B 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in PAIP2B

This is a list of pathogenic ClinVar variants found in the PAIP2B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-71189930-C-T		not specified	Uncertain significance (Jul 31, 2024)
2-71189962-A-C		not specified	Uncertain significance (Mar 30, 2024)
2-71202481-T-A		not specified	Uncertain significance (Aug 01, 2024)
2-71202485-C-G		not specified	Uncertain significance (May 09, 2022)
2-71202524-A-T		not specified	Uncertain significance (Jun 06, 2023)
2-71202531-C-T		not specified	Uncertain significance (Dec 02, 2021)
2-71202558-G-A		not specified	Uncertain significance (Sep 27, 2021)
2-71202562-A-G		not specified	Uncertain significance (Mar 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAIP2B	protein_coding	protein_coding	ENST00000244221	3	44345

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00146	0.689	124326	0	10	124336	0.0000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.372	53	61.2	0.866	0.00000295	829
Missense in Polyphen		13	18.602	0.69885		279
Synonymous	0.741	17	21.4	0.796	0.00000109	184
Loss of Function	0.739	5	7.13	0.701	3.96e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000217	0.000214
Ashkenazi Jewish	0.00	0.00
East Asian	0.000171	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.00000896	0.00000886
Middle Eastern	0.000171	0.000167
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits translation of capped and polyadenylated mRNAs by displacing PABPC1 from the poly(A) tail. {ECO:0000269|PubMed:16804161}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.395
• hipred: Y
• hipred_score: 0.706
• ghis: 0.558

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.571

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Paip2b
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; reproductive system phenotype

Gene ontology

• Biological process: negative regulation of translational initiation
• Cellular component: cytoplasm
• Molecular function: translation repressor activity, mRNA regulatory element binding;protein binding