Ap2a2 MGI Mouse Gene Detail - MGI:101920 - adaptor-related protein complex 2, alpha 2 subunit

Symbol

Ap2a2
Name

adaptor-related protein complex 2, alpha 2 subunit
Synonyms

2410074K14Rik, Adtab, alpha-adaptin C, alpha-C adaptin, L25

Feature Type

protein coding gene
IDs

MGI:101920
NCBI Gene: 11772
Gene Overview

MyGene.info: AP2A2
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr7:141562180-141633011 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 86.94 cM
Mapping Data

5 experiments

SNPs within 2kb

138 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_101920	protein coding gene	Chr7:141562173-141633011 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033238	protein coding gene	Chr7:146757358-146837286 (+)
A/J	MGP_AJ_G0033219	protein coding gene	Chr7:142564215-142636755 (+)
AKR/J	MGP_AKRJ_G0033152	protein coding gene	Chr7:146519515-146596177 (+)
BALB/cJ	MGP_BALBcJ_G0033220	protein coding gene	Chr7:142303193-142375560 (+)
C3H/HeJ	MGP_C3HHeJ_G0032935	protein coding gene	Chr7:146255407-146329189 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033732	protein coding gene	Chr7:152109311-152185786 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030705	protein coding gene	Chr7:143766334-143838515 (+)
CAST/EiJ	MGP_CASTEiJ_G0032265	protein coding gene	Chr7:138571138-138654044 (+)
CBA/J	MGP_CBAJ_G0032907	protein coding gene	Chr7:157272798-157360144 (+)
DBA/2J	MGP_DBA2J_G0033059	protein coding gene	Chr7:140507081-140578122 (+)
FVB/NJ	MGP_FVBNJ_G0033012	protein coding gene	Chr7:140419279-140489863 (+)
LP/J	MGP_LPJ_G0033154	protein coding gene	Chr7:148251312-148326662 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033045	protein coding gene	Chr7:157910118-157990693 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033751	protein coding gene	Chr7:145471922-145546527 (+)
PWK/PhJ	MGP_PWKPhJ_G0031969	protein coding gene	Chr7:133792182-133866131 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031815	protein coding gene	Chr7:132309916-132387440 (+)
WSB/EiJ	MGP_WSBEiJ_G0032375	protein coding gene	Chr7:146426225-146503856 (+)

Human Ortholog

AP2A2, adaptor related protein complex 2 subunit alpha 2

Vertebrate Orthologs

9

Human Ortholog

AP2A2, adaptor related protein complex 2 subunit alpha 2
Orthology source: HomoloGene, HGNC
Synonyms

ADTAB, CLAPA2, HIP9, HIP-9, HYPJ
Links

HGNC:562

NCBI Gene ID: 161

neXtProt AC: NX_O94973

UniProt: O94973
Chr Location

11p15.5; chr11:925809-1012245 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 5335
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: AP2A2
Protein SuperFamily

adaptor protein complex AP-2, alpha subunit
Gene Tree

Ap2a2

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Phenotype Summary

5 phenotypes from 2 alleles in 2 genetic backgrounds
17 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

64
Endonuclease-mediated

1
Gene trapped

59
Radiation induced

1
Targeted

3
Genomic Mutations

1 involving Ap2a2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

35 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

35
GO References

15

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

632
Tissues

1
cDNA Data

214
Literature Summary

6

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA AP2A2

Xenbase ap2a2

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Ap2a2 interacts with 222 markers (Mir1a-2, Mir1b, Mir17, ...) View All

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All Sequences

67
RefSeq

4
UniProt

5
CCDS

CCDS40188.1
UniGene

253090

Ensembl

ENSMUSG00000002957 (Evidence)
NCBI Gene

11772

			Length	Strain/Species	Flank
genomic	11772	NCBI Gene Model \| MGI Sequence Detail	70832	C57BL/6J	± kb
transcript	NM_001357068	RefSeq \| MGI Sequence Detail	4642	C57BL/6
polypeptide	P17427	UniProt \| EBI \| MGI Sequence Detail	938	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004100 AP-2 complex subunit alpha-2

(term hierarchy)
PDB

1B9K, 1KY6, 1KY7, 1KYD, 1KYF, 1KYU, 1QTP, 1QTS, 1W80, 2JKR, 2JKT, 2VJ0, 3HS8, 6OWO, 6OXL
InterPro Domains

IPR017104 Adaptor protein complex AP-2, alpha subunit

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR003164 Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain

IPR008152 Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain

IPR013041 Clathrin adaptor, appendage, Ig-like subdomain superfamily

IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal

IPR009028 Coatomer/calthrin adaptor appendage, C-terminal subdomain

IPR012295 TBP domain superfamily

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All nucleic 218

Genomic 1

cDNA 217

Microarray probesets 5

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MGD-MRK-18749, MGI:1354776, MGI:1920922, MGI:2142215, MGI:2142324

Summaries

All 78

Developmental Gene Expression 6

Gene Ontology 15

Phenotypes 17
Earliest

J:21441 Robinson MS, Cloning of cDNAs encoding two related 100-kD coated vesicle proteins (alpha-adaptins). J Cell Biol. 1989 Mar;108(3):833-42
Latest

J:279421 Carbonell AU, et al., Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. Nat Commun. 2019 Aug 6;10(1):3529

TSS for Ap2a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr70013	Chr7:141562162-141562192 (+)	-3 bp
Tssr70014	Chr7:141562193-141562276 (+)	55 bp
Tssr70015	Chr7:141562285-141562296 (+)	111 bp
Tssr70016	Chr7:141613825-141613834 (+)	51,650 bp
Tssr70017	Chr7:141613838-141613845 (+)	51,662 bp
Tssr70020	Chr7:141632516-141632518 (+)	70,337 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 & Copyright Notice Send questions and comments to User Support.	last database update 11/10/2020 MGI 6.16