PKIG

cAMP-dependent protein kinase inhibitor gamma

Basic information

Region (hg38): 20:44531785-44624247

Links

ENSG00000168734 ∙ NCBI:11142 ∙ OMIM:604932 ∙ HGNC:9019 ∙ Uniprot:Q9Y2B9 ∙ 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 PKIG gene.

Variants pathogenicity by type

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

Variants in PKIG

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

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

Position	Type	Phenotype	Significance	ClinVar
20-44614605-A-G		not specified	Uncertain significance (Dec 03, 2021)
20-44618291-A-G		not specified	Uncertain significance (Nov 21, 2023)
20-44619552-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Jan 12, 2018)
20-44619660-A-T		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Uncertain significance (Jan 13, 2018)
20-44619661-C-G		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Apr 27, 2017)
20-44619672-C-T		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Uncertain significance (Jan 13, 2018)
20-44619682-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Uncertain significance (Jan 13, 2018)
20-44619830-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Apr 27, 2017)
20-44619834-TC-T		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Uncertain significance (Jan 30, 2018)
20-44619837-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (May 26, 2020)
20-44619848-C-T		not specified	Uncertain significance (Sep 16, 2022)
20-44619850-GCTCGTTGGTTC-G		-	no classification for the single variant (-)
20-44619853-C-T		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Jun 02, 2023)
20-44619854-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Benign (Jan 29, 2024)
20-44619854-G-T		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Jan 22, 2024)
20-44619859-T-C		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Dec 11, 2023)
20-44619861-C-T		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Nov 17, 2023)
20-44619862-A-T		SCID due to ADA deficiency, delayed onset • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Uncertain significance (Mar 17, 2024)
20-44619863-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Nov 13, 2023)
20-44619865-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Dec 30, 2023)
20-44619867-A-G		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Apr 27, 2023)
20-44620200-G-A		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Benign (Jun 10, 2021)
20-44620212-T-C		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Benign (Jun 10, 2021)
20-44620285-A-T		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Oct 22, 2023)
20-44620291-G-C		Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely benign (Sep 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PKIG	protein_coding	protein_coding	ENST00000372889	2	92463

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.514	0.424	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.833	35	51.9	0.674	0.00000341	490
Missense in Polyphen		8	12.76	0.62694		141
Synonymous	0.547	20	23.4	0.856	0.00000175	156
Loss of Function	1.33	0	2.06	0.00	8.73e-8	24

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: 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: 0.111

Intolerance Scores

• loftool: 0.226
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.383
• ghis: 0.586

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pkig

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;signal transduction;negative regulation of protein import into nucleus;negative regulation of cAMP-dependent protein kinase activity
• Cellular component: nucleus;cytoplasm
• Molecular function: cAMP-dependent protein kinase inhibitor activity