PKIB

cAMP-dependent protein kinase inhibitor beta

Basic information

Region (hg38): 6:122471917-122726373

Previous symbols: [ "PRKACN2" ]

Links

ENSG00000135549 ∙ NCBI:5570 ∙ OMIM:606914 ∙ HGNC:9018 ∙ Uniprot:Q9C010 ∙ 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 PKIB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PKIB 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 PKIB

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

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

Position	Type	Phenotype	Significance	ClinVar
6-122717824-C-A		not specified	Uncertain significance (Jul 10, 2024)
6-122717826-T-C		not specified	Uncertain significance (Mar 04, 2024)
6-122717865-C-A		not specified	Uncertain significance (Jul 14, 2024)
6-122717915-G-A		not specified	Uncertain significance (May 08, 2024)
6-122717921-T-G		not specified	Uncertain significance (Mar 07, 2024)
6-122717925-A-G		not specified	Uncertain significance (Dec 19, 2022)
6-122717940-T-C		not specified	Uncertain significance (Jul 26, 2024)
6-122717942-G-A		not specified	Uncertain significance (Sep 13, 2023)
6-122717948-C-G		not specified	Uncertain significance (Aug 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PKIB	protein_coding	protein_coding	ENST00000258014	3	254443

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0461	0.691	125574	0	10	125584	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.427	39	47.3	0.825	0.00000272	544
Missense in Polyphen		13	14.837	0.87621		148
Synonymous	0.118	18	18.6	0.965	0.00000115	165
Loss of Function	0.593	2	3.13	0.638	1.32e-7	40

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000445	0.000339
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000283	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000374	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains. {ECO:0000250}.
• Pathway: Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell (Consensus)

Recessive Scores

• pRec: 0.0677

Intolerance Scores

• loftool: 0.209
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.0193
• hipred: N
• hipred_score: 0.153
• ghis: 0.563

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.326

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pkib
• Phenotype: normal phenotype

Gene ontology

• Biological process: positive regulation of telomere maintenance via telomerase;positive regulation of telomerase activity;positive regulation of telomere capping;negative regulation of cAMP-dependent protein kinase activity
• Cellular component: nucleus;cytoplasm
• Molecular function: cAMP-dependent protein kinase inhibitor activity