Apba3 MGI Mouse Gene Detail - MGI:1888527 - amyloid beta precursor protein binding family A member 3

Symbol

Apba3
Name

amyloid beta precursor protein binding family A member 3
Synonyms

lin-10, Mint 3, Mint-3, neuronal munc18-1-interacting protein 3, neuron-specific X11L2 protein, X11gamma

Feature Type

protein coding gene
IDs

MGI:1888527
NCBI Gene: 57267
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr10:81102799-81109081 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

2 experiments

SNPs within 2kb

167 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1888527	protein coding gene	Chr10:81102794-81109081 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017547	protein coding gene	Chr10:81975803-81980699 (+)
A/J	MGP_AJ_G0017525	protein coding gene	Chr10:79071777-79076851 (+)
AKR/J	MGP_AKRJ_G0017486	protein coding gene	Chr10:81245316-81250390 (+)
BALB/cJ	MGP_BALBcJ_G0017487	protein coding gene	Chr10:79290491-79295565 (+)
C3H/HeJ	MGP_C3HHeJ_G0017310	protein coding gene	Chr10:81339389-81344461 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017941	protein coding gene	Chr10:84789291-84794365 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015630	protein coding gene	Chr10:75268714-75273933 (+)
CAST/EiJ	MGP_CASTEiJ_G0016877	protein coding gene	Chr10:81569254-81574307 (+)
CBA/J	MGP_CBAJ_G0017282	protein coding gene	Chr10:88098371-88103445 (+)
DBA/2J	MGP_DBA2J_G0017388	protein coding gene	Chr10:78276654-78281746 (+)
FVB/NJ	MGP_FVBNJ_G0017382	protein coding gene	Chr10:77523113-77528187 (+)
LP/J	MGP_LPJ_G0017459	protein coding gene	Chr10:82426084-82431158 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017408	protein coding gene	Chr10:89950433-89955507 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017982	protein coding gene	Chr10:81251239-81256313 (+)
PWK/PhJ	MGP_PWKPhJ_G0016658	protein coding gene	Chr10:78168968-78174218 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016448	protein coding gene	Chr10:80195463-80200515 (+)
WSB/EiJ	MGP_WSBEiJ_G0016937	protein coding gene	Chr10:81279090-81285952 (+)

Human Ortholog

APBA3, amyloid beta precursor protein binding family A member 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

APBA3, amyloid beta precursor protein binding family A member 3
Synonyms

MGC:15815, mint3, X11L2
Links

HGNC:580

NCBI Gene ID: 9546

neXtProt AC: NX_O96018

UniProt: O96018
Chr Location

19p13.3; chr19:3750772-3761692 (-) GRCh38

MGI Vertebrate Homology

Apba3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: APBA3
Gene Tree

Apba3

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Phenotype Summary

8 phenotypes from 3 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
21 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

11
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

4
Targeted

5
Genomic Mutations

1 involving Apba3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

22 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Deletion in mutants causes abnormalities in colon morphology and physiology, increased circulating blood urea nitrogen, and decreased serum chloride, sodium and potassium levels. Surviving homozygotes display diarrhea, postnatal viability and decreased life span.

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All GO Annotations

21
GO References

8

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

706
cDNA Data

49

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase apba3

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All Sequences

68
RefSeq

15
UniProt

6
CCDS

CCDS24050.1

Ensembl

ENSMUSG00000004931 (Evidence)
NCBI Gene

57267

			Length	Strain/Species	Flank
genomic	57267	NCBI Gene Model \| MGI Sequence Detail	6283	C57BL/6J	± kb
transcript	NR_190703	RefSeq \| MGI Sequence Detail	2063	C57BL/6
polypeptide	O88888	UniProt \| EBI \| MGI Sequence Detail	571	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004117 amyloid-beta A4 precursor protein-binding family A member 3

(term hierarchy)
InterPro Domains

IPR051230 Amyloid-beta A4 Precursor Protein-Binding

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR011993 PH-like domain superfamily

IPR006020 PTB/PI domain
GlyGen

O88888 1 site, 1 N-linked glycan (1 site)

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All nucleic 51

cDNA 51

Microarray probesets 3

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MGI:2143823

Summaries

All 50

Gene Ontology 8

Phenotypes 21
Earliest

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

J:278658 Lin AY, et al., A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function. Sci Rep. 2019 Apr 15;9(1):6024

TSS for Apba3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94727	Chr10:81102527-81102550 (+)	-260 bp
Tssr94728	Chr10:81104010-81104039 (+)	1,226 bp
Tssr94729	Chr10:81104041-81104104 (+)	1,274 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 12/10/2024 MGI 6.24