Ap2b1 MGI Mouse Gene Detail - MGI:1919020 - adaptor-related protein complex 2, beta 1 subunit

Symbol

Ap2b1
Name

adaptor-related protein complex 2, beta 1 subunit
Synonyms

1300012O03Rik

Feature Type

protein coding gene
IDs

MGI:1919020
NCBI Gene: 71770
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr11:83189850-83295861 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 50.30 cM, cytoband B5
Mapping Data

3 experiments

SNPs within 2kb

2552 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919020	protein coding gene	Chr11:83189545-83295861 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018845	protein coding gene	Chr11:84618640-84726242 (+)
A/J	MGP_AJ_G0018812	protein coding gene	Chr11:81407269-81515062 (+)
AKR/J	MGP_AKRJ_G0018782	protein coding gene	Chr11:83828064-83940462 (+)
BALB/cJ	MGP_BALBcJ_G0018785	protein coding gene	Chr11:81817942-81926482 (+)
C3H/HeJ	MGP_C3HHeJ_G0018599	protein coding gene	Chr11:83881162-84000280 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019237	protein coding gene	Chr11:87216209-87325546 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016871	protein coding gene	Chr11:78534157-78641631 (+)
CAST/EiJ	MGP_CASTEiJ_G0018154	protein coding gene	Chr11:84468411-84576633 (+)
CBA/J	MGP_CBAJ_G0018570	protein coding gene	Chr11:90992790-91099264 (+)
DBA/2J	MGP_DBA2J_G0018678	protein coding gene	Chr11:81004883-81111471 (+)
FVB/NJ	MGP_FVBNJ_G0018667	protein coding gene	Chr11:80486243-80594189 (+)
LP/J	MGP_LPJ_G0018748	protein coding gene	Chr11:85177334-85292203 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018694	protein coding gene	Chr11:91156035-91267761 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019277	protein coding gene	Chr11:84092175-84209008 (+)
PWK/PhJ	MGP_PWKPhJ_G0017923	protein coding gene	Chr11:81764097-81871011 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017715	protein coding gene	Chr11:83640357-83748250 (+)
WSB/EiJ	MGP_WSBEiJ_G0018205	protein coding gene	Chr11:83965352-84074026 (+)

Human Ortholog

AP2B1, adaptor related protein complex 2 subunit beta 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AP2B1, adaptor related protein complex 2 subunit beta 1
Synonyms

ADTB2, AP105B, AP2-BETA, CLAPB1
Links

HGNC:563

NCBI Gene ID: 163

neXtProt AC: NX_P63010

UniProt: P63010
Chr Location

17q12; chr17:35578046-35726413 (+) GRCh38

MGI Vertebrate Homology

Ap2b1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AP2B1
Protein SuperFamily

AP_complex_beta
Gene Tree

Ap2b1

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Phenotype Summary

17 phenotypes from 4 alleles in 4 genetic backgrounds
1 phenotype from multigenic genotypes
20 images
26 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

60
Chemically induced (ENU)

2
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

48
Targeted

4
Transgenic

2
Genomic Mutations

2 involving Ap2b1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

74 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a transgenic gene disruption exhibit cleft palate.

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All GO Annotations

43
GO References

19

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

845
Tissues

137
cDNA Data

217
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA AP2B1

Xenbase ap2b1

ZFIN ap2b1

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All Sequences

62
RefSeq

10
UniProt

6
CCDS

CCDS25161.1, CCDS25162.1

Ensembl

ENSMUSG00000035152 (Evidence)
NCBI Gene

71770

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035152	Ensembl Gene Model \| MGI Sequence Detail	106012	C57BL/6J	± kb
transcript	ENSMUST00000018875	Ensembl \| MGI Sequence Detail	5625	Not Applicable
polypeptide	ENSMUSP00000018875	Ensembl \| MGI Sequence Detail	951	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004101 AP-2 complex subunit beta

(term hierarchy)
PDB

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

IPR016342 AP-1/2/4 complex subunit beta

IPR026739 AP complex subunit beta

IPR000225 Armadillo

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR015151 Beta-adaptin appendage, C-terminal subdomain

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

IPR013041 Clathrin adaptor, appendage, Ig-like subdomain superfamily

IPR013037 Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain

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

IPR009028 Coatomer/calthrin adaptor appendage, C-terminal subdomain

IPR012295 TBP domain superfamily
GlyGen

Q9DBG3 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (3 sites)

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All nucleic 221

cDNA 217

Primer pair 3

Other 1

Microarray probesets 5

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MGI:2144265

Summaries

All 75

Developmental Gene Expression 8

Gene Ontology 19

Phenotypes 26
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ap2b1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103682	Chr11:83189736-83189751 (+)	-106 bp
Tssr103683	Chr11:83189759-83189784 (+)	-78 bp
Tssr103684	Chr11:83189831-83189872 (+)	2 bp
Tssr103685	Chr11:83189889-83189917 (+)	53 bp
Tssr103686	Chr11:83193467-83193629 (+)	3,698 bp
Tssr103687	Chr11:83193643-83193648 (+)	3,796 bp
Tssr103688	Chr11:83196360-83196367 (+)	6,514 bp
Tssr103689	Chr11:83212473-83212476 (+)	22,625 bp
Tssr103690	Chr11:83246081-83246085 (+)	56,233 bp
Tssr103691	Chr11:83295814-83295821 (+)	105,968 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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