Appl2 MGI Mouse Gene Detail - MGI:2384914 - adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

Symbol

Appl2
Name

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Synonyms

Dip3b

Feature Type

protein coding gene
IDs

MGI:2384914
NCBI Gene: 216190
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr10:83435897-83484602 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 41.29 cM
Mapping Data

1 experiment

SNPs within 2kb

1419 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384914	protein coding gene	Chr10:83435897-83484741 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017588	protein coding gene	Chr10:84410681-84465466 (-)
A/J	MGP_AJ_G0017568	protein coding gene	Chr10:81561113-81611155 (-)
AKR/J	MGP_AKRJ_G0017527	protein coding gene	Chr10:83815754-83867469 (-)
BALB/cJ	MGP_BALBcJ_G0017531	protein coding gene	Chr10:81814774-81863427 (-)
C3H/HeJ	MGP_C3HHeJ_G0017353	protein coding gene	Chr10:83909847-83960287 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017988	protein coding gene	Chr10:87318119-87368786 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015672	protein coding gene	Chr10:77258599-77306635 (-)
CAST/EiJ	MGP_CASTEiJ_G0016920	protein coding gene	Chr10:83777508-83840576 (-)
CBA/J	MGP_CBAJ_G0017323	protein coding gene	Chr10:90939837-90993044 (-)
DBA/2J	MGP_DBA2J_G0017429	protein coding gene	Chr10:80712493-80761328 (-)
FVB/NJ	MGP_FVBNJ_G0017423	protein coding gene	Chr10:79951240-79999466 (-)
LP/J	MGP_LPJ_G0017501	protein coding gene	Chr10:85055846-85106263 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017451	protein coding gene	Chr10:92598590-92650226 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018025	protein coding gene	Chr10:83750438-83804361 (-)
PWK/PhJ	MGP_PWKPhJ_G0016701	protein coding gene	Chr10:80580964-80631051 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016491	protein coding gene	Chr10:82353612-82414578 (-)
WSB/EiJ	MGP_WSBEiJ_G0016979	protein coding gene	Chr10:83766927-83815862 (-)

Human Ortholog

APPL2, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

APPL2, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Synonyms

DIP13B
Links

HGNC:18242

NCBI Gene ID: 55198

neXtProt AC: NX_Q8NEU8

UniProt: Q8NEU8
Chr Location

12q23.3; chr12:105173297-105236203 (-) GRCh38

MGI Vertebrate Homology

Appl2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: APPL2
Gene Tree

Appl2

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
7 phenotypes from multigenic genotypes
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	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

8
Chemically induced (other)

1
Gene trapped

1
Targeted

6
Genomic Mutations

1 involving Appl2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display altered red blood cell physiology. Mutant MEFs exhibit defects in HGF-induced Akt activation, migration, and invasion.

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All GO Annotations

71
GO References

15

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

862
Tissues

39
cDNA Data

100
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase appl2

ZFIN appl2

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All Sequences

98
RefSeq

29
UniProt

10
CCDS

CCDS24078.1

Ensembl

ENSMUSG00000020263 (Evidence)
NCBI Gene

216190

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020263	Ensembl Gene Model \| MGI Sequence Detail	48706	C57BL/6J	± kb
transcript	ENSMUST00000020500	Ensembl \| MGI Sequence Detail	3020	Not Applicable
polypeptide	ENSMUSP00000020500	Ensembl \| MGI Sequence Detail	662	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000004171 DCC-interacting protein 13-beta

(term hierarchy)
InterPro Domains

IPR027267 AH/BAR domain superfamily

IPR004148 BAR domain

IPR047181 DCC-interacting protein 13-alpha/beta

IPR047236 DCC-interacting protein 13-alpha/beta, PH domain

IPR047237 DCC-interacting protein 13-alpha/beta, PTB domain

IPR047239 DCC-interacting protein 13-beta, BAR domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR006020 PTB/PI domain

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All nucleic 101

cDNA 101

Microarray probesets 3

Summaries

All 52

Developmental Gene Expression 4

Gene Ontology 15

Phenotypes 17
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 Appl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr98711	Chr10:83484577-83484595 (-)	16 bp
Tssr98710	Chr10:83484495-83484546 (-)	81 bp
Tssr98709	Chr10:83484466-83484493 (-)	122 bp
Tssr98708	Chr10:83473296-83473336 (-)	11,286 bp
Tssr98707	Chr10:83472211-83472221 (-)	12,386 bp
Tssr98706	Chr10:83472177-83472186 (-)	12,420 bp
Tssr98705	Chr10:83460787-83460791 (-)	23,813 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 11/19/2024 MGI 6.24