AKAP11

protein-coding

A-kinase anchoring protein 11, the group of A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits

Gene summary

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]

MANE transcript

NM_016248.4

Inheritance

—

ClinVar variants

U:272B:27

Top phenotype

AKAP11-related disorder

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr13:42,272,152-42,323,261

External References & Databases

Ensembl (ENSG00000023516)

Transcript & Mutation Effects

hg38 • Region Span ~51.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AKAP11 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 271

not providedTotal: 15

AKAP11-related disorderTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016248.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	2 clinvar		6
missense			263 clinvar	16 clinvar	9 clinvar	288
nonsense			2 clinvar			2
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	272	18	9	299

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 36 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016248.4	RefSeq	NP_057332.1	11	MANE Select
ENST00000025301.4	Ensembl	ENSP00000025301.2	11	MANE Select
ENST00000938569.1	Ensembl	ENSP00000608628.1	11	Standard
ENST00000938569.2	Ensembl	ENSP00000608628.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

G Protein Signaling Pathways

Biological Process

intracellular signal transduction

Molecular Function

protein binding
protein phosphatase 1 binding
protein kinase A binding

Cellular Component

nucleolus
cytoplasm
peroxisome
microtubule organizing center
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000025301
Coding exons: 11
Length: 51108
Individuals with no LoFs: 125716
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125738
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.313	920	947	0.971	0.0000451	12563
Missense (PolyPhen)		239	290.82	0.8218		4090
Synonymous	-0.391	363	354	1.03	0.0000177	3589
Loss of Function	6.07	12	64.7	0.185	0.00000325	934

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.000069	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds to type II regulatory subunits of protein kinase A and anchors/targets them.;

Recessive Scores

pRec: 0.0842

Intolerance Scores

LoFtool: 0.444
RVIS EVS: 1.45
RVIS percentile EVS: 95.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.738

Gene Damage Prediction

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