Akap6 MGI Mouse Gene Detail - MGI:3050566 - A kinase anchor protein 6

Symbol

Akap6
Name

A kinase anchor protein 6

Feature Type

protein coding gene
IDs

MGI:3050566
NCBI Gene: 238161
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr12:52746166-53202382 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 22.18 cM
Mapping Data

3 experiments

SNPs within 2kb

13193 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3050566	protein coding gene	Chr12:52745371-53202382 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019733	protein coding gene	Chr12:51541190-52005671 (+)
A/J	MGP_AJ_G0019695	protein coding gene	Chr12:49713086-50171530 (+)
AKR/J	MGP_AKRJ_G0019666	protein coding gene	Chr12:51214621-51669357 (+)
BALB/cJ	MGP_BALBcJ_G0019673	protein coding gene	Chr12:49993147-50447646 (+)
C3H/HeJ	MGP_C3HHeJ_G0019476	protein coding gene	Chr12:51313674-51783327 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020121	protein coding gene	Chr12:53134999-53608819 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017744	protein coding gene	Chr12:48085590-48513340 (+)
CAST/EiJ	MGP_CASTEiJ_G0019029	protein coding gene	Chr12:46359708-46821007 (+)
CBA/J	MGP_CBAJ_G0019448	protein coding gene	Chr12:54960750-55456337 (+)
DBA/2J	MGP_DBA2J_G0019562	protein coding gene	Chr12:49586746-50034872 (+)
FVB/NJ	MGP_FVBNJ_G0019551	protein coding gene	Chr12:49020066-49465461 (+)
LP/J	MGP_LPJ_G0019634	protein coding gene	Chr12:51585912-52084147 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019587	protein coding gene	Chr12:56613415-57113138 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020159	protein coding gene	Chr12:50726943-51182231 (+)
PWK/PhJ	MGP_PWKPhJ_G0018796	protein coding gene	Chr12:44166614-44605430 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018590	protein coding gene	Chr12:45305285-45768179 (+)
WSB/EiJ	MGP_WSBEiJ_G0019080	protein coding gene	Chr12:51198496-51655001 (+)

Human Ortholog

AKAP6, A-kinase anchoring protein 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AKAP6, A-kinase anchoring protein 6
Synonyms

ADAP100, ADAP6, AKAP100, mAKAP, PRKA6
Links

HGNC:376

NCBI Gene ID: 9472

UniProt: Q13023
Chr Location

14q12; chr14:32329298-32837684 (+) GRCh38

MGI Vertebrate Homology

Akap6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AKAP6
Gene Tree

Akap6

Diseases

2 with human AKAP6 associations

				Human Disease	Mouse Models
				anorexia nervosa IDs anorexia nervosa DOID:8689 ICD10CM:F50.0 ICD9CM:307.1 MESH:D000856 NCI:C34387 UMLS_CUI:C0003125
				ovary epithelial cancer IDs ovary epithelial cancer DOID:2152 NCI:C4381 UMLS_CUI:C0341823

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

14 phenotypes from 3 alleles in 4 genetic backgrounds
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

1
Targeted

4
Genomic Mutations

1 involving Akap6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

112 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability.

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All GO Annotations

77
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

853
Tissues

50
cDNA Data

10
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase akap6

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All Sequences

71
RefSeq

28
UniProt

8
CCDS

CCDS36444.1

Ensembl

ENSMUSG00000061603 (Evidence)
NCBI Gene

238161

			Length	Strain/Species	Flank
genomic	ENSMUSG00000061603	Ensembl Gene Model \| MGI Sequence Detail	456217	C57BL/6J	± kb
transcript	ENSMUST00000095737	Ensembl \| MGI Sequence Detail	14847	Not Applicable
polypeptide	ENSMUSP00000093406	Ensembl \| MGI Sequence Detail	2307	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000003893 A-kinase anchor protein 6

(term hierarchy)
InterPro Domains

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat
GlyGen

E9Q9K8 2 sites, 2 N-linked glycans (2 sites)

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All nucleic 12

cDNA 11

Primer pair 1

Microarray probesets 3

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MGI:2144849

Summaries

All 46

Developmental Gene Expression 6

Gene Ontology 13

Phenotypes 8
Earliest

J:198914 Kapiloff MS, et al., mAKAP and the ryanodine receptor are part of a multi-component signaling complex on the cardiomyocyte nuclear envelope. J Cell Sci. 2001 Sep;114(Pt 17):3167-76
Latest

J:358347 Dias AP, et al., Tail-anchored membrane protein SLMAP3 is essential for targeting centrosomal proteins to the nuclear envelope in skeletal myogenesis. Open Biol. 2024 Oct;14(10):240094

TSS for Akap6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113446	Chr12:52746016-52746025 (+)	-145 bp
Tssr113447	Chr12:52746080-52746194 (+)	-29 bp
Tssr113448	Chr12:52793491-52793495 (+)	47,327 bp
Tssr113449	Chr12:52819863-52819877 (+)	73,704 bp
Tssr113450	Chr12:52830037-52830054 (+)	83,880 bp
Tssr113451	Chr12:52830071-52830082 (+)	83,911 bp
Tssr113452	Chr12:52837518-52837534 (+)	91,360 bp
Tssr113453	Chr12:52837766-52837803 (+)	91,619 bp
Tssr113457	Chr12:52901429-52901448 (+)	155,273 bp
Tssr113458	Chr12:52901450-52901498 (+)	155,308 bp
Tssr113459	Chr12:52901508-52901518 (+)	155,347 bp
Tssr113460	Chr12:53195994-53195996 (+)	449,829 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/25/2025 MGI 6.24