AKAP9

Gene Facts External Data Attribution

HGNC Symbol
AKAP9 (HGNC:379) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
A-kinase anchoring protein 9
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11
%HI
30.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.66(Read more about gnomAD LOEUF score)
Cytoband
7q21.2
Genomic Coordinates
GRCh37/hg19: chr7:91570176-91739987 NCBI Ensembl UCSC
GRCh38/hg38: chr7:91940862-92110673 NCBI Ensembl UCSC
MANE Select Transcript
NM_005751.5 ENST00000356239.8 (Read more about MANE Select)
Function
Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruit... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5877
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)