AKAP12

A-kinase anchoring protein 12, the group of A-kinase anchoring proteins

Basic information

Region (hg38): 6:151239967-151358559

Links

ENSG00000131016

∙ NCBI:9590 ∙ OMIM:604698 ∙ HGNC:370 ∙ Uniprot:Q02952 ∙ 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 AKAP12 gene.

not_specified (229 variants)
not_provided (19 variants)
Preeclampsia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005100.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	6 clinvar	8
missense			212 clinvar	20 clinvar	5 clinvar	237
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	212	22	11

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP12	protein_coding	protein_coding	ENST00000402676	3	118559

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0357	0.964	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.575	882	931	0.947	0.0000516	11583
Missense in Polyphen		205	237.74	0.86228		2922
Synonymous	-0.125	395	392	1.01	0.0000271	3557
Loss of Function	4.61	12	45.6	0.263	0.00000207	671

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000211	0.000210
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.000435	0.000272
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000435	0.000272
South Asian	0.0000992	0.0000980
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).;
Pathway: G Protein Signaling Pathways (Consensus)

Recessive Scores

pRec: 0.118

Intolerance Scores

loftool: 0.536
rvis_EVS: 0.91
rvis_percentile_EVS: 89.55

Haploinsufficiency Scores

pHI: 0.407
hipred: Y
hipred_score: 0.545
ghis: 0.443

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.719

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Akap12
Phenotype: muscle phenotype; endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal 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); reproductive system phenotype;

Zebrafish Information Network

Gene name: akap12b
Affected structure: mesodermal cell
Phenotype tag: abnormal
Phenotype quality: increased amount

Gene ontology

Biological process: protein targeting;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;regulation of protein kinase A signaling;positive regulation of protein kinase A signaling;modulation of chemical synaptic transmission;regulation of protein kinase C signaling
Cellular component: cytoplasm;cytosol;cytoskeleton;plasma membrane;focal adhesion;cell cortex;Schaffer collateral - CA1 synapse
Molecular function: protein binding;adenylate cyclase binding;protein kinase A binding