Ap2m1 MGI Mouse Gene Detail - MGI:1298405 - adaptor-related protein complex 2, mu 1 subunit

Symbol

Ap2m1
Name

adaptor-related protein complex 2, mu 1 subunit
Synonyms

clathrin-associated AP-2

Feature Type

protein coding gene
IDs

MGI:1298405
NCBI Gene: 11773
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr16:20354230-20363659 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 12.46 cM, cytoband 16
Mapping Data

1 experiment

SNPs within 2kb

234 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1298405	protein coding gene	Chr16:20354228-20363659 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022644	protein coding gene	Chr16:17873983-17883413 (+)
A/J	MGP_AJ_G0022606	protein coding gene	Chr16:17010932-17021262 (+)
AKR/J	MGP_AKRJ_G0022581	protein coding gene	Chr16:17662723-17672837 (+)
BALB/cJ	MGP_BALBcJ_G0022610	protein coding gene	Chr16:17174221-17183387 (+)
C3H/HeJ	MGP_C3HHeJ_G0022375	protein coding gene	Chr16:17822726-17831441 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023061	protein coding gene	Chr16:18220635-18233017 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020578	protein coding gene	Chr16:17701743-17711297 (+)
CAST/EiJ	MGP_CASTEiJ_G0021905	protein coding gene	Chr16:17797021-17809704 (+)
CBA/J	MGP_CBAJ_G0022347	protein coding gene	Chr16:18962579-18972610 (+)
DBA/2J	MGP_DBA2J_G0022479	protein coding gene	Chr16:16940613-16948796 (+)
FVB/NJ	MGP_FVBNJ_G0022454	protein coding gene	Chr16:16970737-16980164 (+)
LP/J	MGP_LPJ_G0022546	protein coding gene	Chr16:17604313-17614588 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022474	protein coding gene	Chr16:18650606-18665780 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023072	protein coding gene	Chr16:17617973-17629184 (+)
PWK/PhJ	MGP_PWKPhJ_G0021646	protein coding gene	Chr16:17202366-17212464 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021475	protein coding gene	Chr16:17422437-17433822 (+)
WSB/EiJ	MGP_WSBEiJ_G0021949	protein coding gene	Chr16:17609680-17622980 (+)

Human Ortholog

AP2M1, adaptor related protein complex 2 subunit mu 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AP2M1, adaptor related protein complex 2 subunit mu 1
Synonyms

AP50, CLAPM1, MRD60, mu2
Links

HGNC:564

NCBI Gene ID: 1173

neXtProt AC: NX_Q96CW1

UniProt: Q96CW1
Chr Location

3q27.1; chr3:184174689-184184214 (+) GRCh38

MGI Vertebrate Homology

Ap2m1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AP2M1
Protein SuperFamily

Clathrin_mu
Gene Tree

Ap2m1

Diseases

1 with human AP2M1 associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder IDs autosomal dominant intellectual developmental disorder DOID:0060307 OMIM:PS156200 ORDO:178469

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
14 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

34
Endonuclease-mediated

2
Gene trapped

27
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

42 strains or lines available

Mice homozygous for a targeted deletion display embryonic lethality before implantation.

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All GO Annotations

61
GO References

16

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

803
Tissues

94
cDNA Data

234
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ap2m1

ZFIN ap2m1a, ap2m1b

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All Sequences

65
RefSeq

4
UniProt

8
CCDS

CCDS28048.1, CCDS79436.1

Ensembl

ENSMUSG00000022841 (Evidence)
NCBI Gene

11773

			Length	Strain/Species	Flank
genomic	11773	NCBI Gene Model \| MGI Sequence Detail	9430	C57BL/6J	± kb
transcript	NM_009679	RefSeq \| MGI Sequence Detail	2937	C57BL/6
polypeptide	P84091	UniProt \| EBI \| MGI Sequence Detail	435	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000004102 AP-2 complex subunit mu

(term hierarchy)
PDB

6OWO, 6OWT, 6OXL, 7RW8, 7RW9, 7RWA, 7RWB, 7RWC, 8T1O
InterPro Domains

IPR050431 Adaptor complexes medium subunit

IPR036168 AP-2 complex subunit mu, C-terminal superfamily

IPR043532 AP-2 complex subunit mu, N-terminal

IPR022775 AP complex, mu/sigma subunit

IPR001392 Clathrin adaptor, mu subunit

IPR018240 Clathrin adaptor, mu subunit, conserved site

IPR011012 Longin-like domain superfamily

IPR043512 Mu2, C-terminal domain

IPR028565 Mu homology domain
GlyGen

P84091 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 242

Genomic 4

cDNA 234

Primer pair 1

Other 3

Microarray probesets 3

Summaries

All 54

Developmental Gene Expression 3

Gene Ontology 16

Phenotypes 14
Earliest

J:28934 Ohno H, et al., Interaction of tyrosine-based sorting signals with clathrin-associated proteins. Science. 1995 Sep 29;269(5232):1872-5
Latest

J:343451 Camblor-Perujo S, et al., The AP-2 complex interacts with gamma-TuRC and regulates the proliferative capacity of neural progenitors. Life Sci Alliance. 2024 Feb;7(2)

TSS for Ap2m1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137442	Chr16:20354185-20354189 (+)	-43 bp
Tssr137443	Chr16:20354210-20354221 (+)	-14 bp
Tssr137444	Chr16:20354225-20354296 (+)	31 bp
Tssr137445	Chr16:20356251-20356261 (+)	2,026 bp
Tssr137446	Chr16:20356343-20356368 (+)	2,126 bp
Tssr137447	Chr16:20356970-20357000 (+)	2,755 bp
Tssr137448	Chr16:20358724-20358772 (+)	4,518 bp
Tssr137449	Chr16:20359336-20359347 (+)	5,112 bp
Tssr137450	Chr16:20359377-20359390 (+)	5,154 bp
Tssr137451	Chr16:20359413-20359516 (+)	5,235 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)
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