Apbb2 amyloid beta precursor protein binding family B member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Apbb2provided by MGI
Official Full Name: amyloid beta precursor protein binding family B member 2provided by MGI
Primary source: MGI:MGI:108405
See related: Ensembl:ENSMUSG00000029207 AllianceGenome:MGI:108405
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TR2L; Zfra; Rirl1; FE65L1; 2310007D03Rik
Summary: Predicted to enable amyloid-beta binding activity. Involved in maintenance of lens transparency and smooth muscle contraction. Acts upstream of or within extracellular matrix organization; generation of neurons; and regulation of apoptotic process. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in Alzheimer's disease and cognitive disorder. Orthologous to human APBB2 (amyloid beta precursor protein binding family B member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 2.9), cerebellum adult (RPKM 2.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 34.43 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (66456068..66779189, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (66298725..66619064, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Zfra Inhibits the TRAPPC6ADelta-Initiated Pathway of Neurodegeneration.
Title: Zfra Inhibits the TRAPPC6AΔ-Initiated Pathway of Neurodegeneration.
These data demonstrate a role for FE65 proteins at central and peripheral synapses.
Title: FE65 and FE65L1 share common synaptic functions and genetically interact with the APP family in neuromuscular junction formation.
Findings show that amyloid precursor protein-binding proteins FE65 and FE65L1 are essential for the maintenance of lens transparency.
Title: FE65 and FE65L1 amyloid precursor protein-binding protein compound null mice display adult-onset cataract and muscle weakness.
FE65 proteins contribute to physiological APP processing and accumulation of amyloid precursor protein metabolic products resulting from NMDA receptor activation
Title: FE65 proteins regulate NMDA receptor activation-induced amyloid precursor protein processing.
Structure of the C-terminal phosphotyrosine interaction domain of Fe65L1 complexed with the cytoplasmic tail of amyloid precursor protein reveals a novel peptide binding mode
Title: Structure of the C-terminal phosphotyrosine interaction domain of Fe65L1 complexed with the cytoplasmic tail of amyloid precursor protein reveals a novel peptide binding mode.
Targeted deletion of two members of the FE65 family of adaptor proteins, FE65 and FE65L1, results in cortical dysplasia and suggests that FE65 proteins are involved in basement membrane assembly.
Title: Essential roles for the FE65 amyloid precursor protein-interacting proteins in brain development.
the apoptosis inhibitory domain of FE65-like protein 1 regulates both apoptotic and caspase-independent programmed cell death mediated by TNF
Title: The apoptosis inhibitory domain of FE65-like protein 1 regulates both apoptotic and caspase-independent programmed cell death mediated by tumor necrosis factor.
While mitogen activated protein kinase 8 (JNK1) is a downstream effector of the Tumor Necrosis Factor (TNF) signaling, Zfra regulation of the TNF cytotoxic function is likely due to its interaction, in part, with JNK1.
Title: Cloning and characterization of a small-size peptide Zfra that regulates the cytotoxic function of tumor necrosis factor by interacting with JNK1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Chemically induced (ENU) (2)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136211 (e-PCR)
- UniSTS:210206

Apbb2 (e-PCR), detects polymorphism
- UniSTS:498218

RH125131 (e-PCR)
- UniSTS:161953

RH118289 (e-PCR)
- UniSTS:160944

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axon guidance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in maintenance of lens transparency	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of cell cycle phase transition	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: amyloid beta precursor protein binding family B member 2

Names: amyloid beta (A4) precursor protein-binding, family B, member 2; protein Fe65-like 1; zinc finger-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001201413.2 → NP_001188342.1 amyloid beta precursor protein binding family B member 2 isoform 2

See identical proteins and their annotated locations for NP_001188342.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AC123049, AC131752, AC149587, AC165426

Consensus CDS

CCDS57345.1

UniProtKB/TrEMBL

E9QPX0, Q3TIZ5

Related

ENSMUSP00000123978.3, ENSMUST00000160870.8

Conserved Domains (3) summary

cd01271
Location:582 → 708

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:416 → 553

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
NM_001201414.2 → NP_001188343.1 amyloid beta precursor protein binding family B member 2 isoform 3

See identical proteins and their annotated locations for NP_001188343.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AC123049, AC131752, AC149587, AC165426

Consensus CDS

CCDS57346.1

UniProtKB/TrEMBL

E9PWH3, Q3U674

Related

ENSMUSP00000124807.2, ENSMUST00000159512.8

Conserved Domains (3) summary

cd01271
Location:562 → 688

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:396 → 533

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
NM_001201415.2 → NP_001188344.1 amyloid beta precursor protein binding family B member 2 isoform 4

See identical proteins and their annotated locations for NP_001188344.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two in-frame exons compared to variant 1. The resulting isoform (4) is shorter than isoform 1.

Source sequence(s)

AC123049, AC131752, AC149587, AC165426

Consensus CDS

CCDS57344.1

UniProtKB/TrEMBL

Q3U674

Related

ENSMUSP00000125211.3, ENSMUST00000159786.8

Conserved Domains (3) summary

cd01271
Location:561 → 687

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:395 → 532

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
NM_001201416.1 → NP_001188345.1 amyloid beta precursor protein binding family B member 2 isoform 5

See identical proteins and their annotated locations for NP_001188345.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks multiple coding exons from the 5' end and has an alternate 5' exon compared to variant 1. It initiates translation at a downstream start codon. The resulting isoform (5) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC131752

UniProtKB/TrEMBL

Q3T9N0

Related

ENSMUST00000162955.8

Conserved Domains (1) summary

cd01271
Location:34 → 160

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
NM_001310626.2 → NP_001297555.1 amyloid beta precursor protein binding family B member 2 isoform 6

See identical proteins and their annotated locations for NP_001297555.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks two in-frame exons and uses an alternate in-frame splice site compared to variant 1. The resulting isoform (6) is shorter than isoform 1.

Source sequence(s)

AC123049, AC131752, AC149587, AC165426

Consensus CDS

CCDS80292.1

UniProtKB/TrEMBL

Q3TDW6, Q3U674

Related

ENSMUSP00000125116.2, ENSMUST00000162366.8

Conserved Domains (3) summary

cd01271
Location:560 → 686

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:395 → 532

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
NM_009686.3 → NP_033816.1 amyloid beta precursor protein binding family B member 2 isoform 1

See identical proteins and their annotated locations for NP_033816.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC123049, AC131752, AC149587, AC165426

Consensus CDS

CCDS51510.1

UniProtKB/Swiss-Prot

Q6DFX8, Q9DBR4

UniProtKB/TrEMBL

E9QPX0

Related

ENSMUSP00000123752.3, ENSMUST00000162349.8

Conserved Domains (3) summary

cd01271
Location:584 → 710

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:416 → 555

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

66456068..66779189 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503696.5 → XP_006503759.1 amyloid beta precursor protein binding family B member 2 isoform X13

See identical proteins and their annotated locations for XP_006503759.1

UniProtKB/TrEMBL

Q3T9N0

Conserved Domains (1) summary

cd01271
Location:34 → 160

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
XM_006503697.5 → XP_006503760.1 amyloid beta precursor protein binding family B member 2 isoform X13

See identical proteins and their annotated locations for XP_006503760.1

UniProtKB/TrEMBL

Q3T9N0

Conserved Domains (1) summary

cd01271
Location:34 → 160

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
XM_036164748.1 → XP_036020641.1 amyloid beta precursor protein binding family B member 2 isoform X9

UniProtKB/TrEMBL

Q3U674

Conserved Domains (3) summary

cd01271
Location:561 → 687

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:395 → 532

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
XM_030254081.2 → XP_030109941.1 amyloid beta precursor protein binding family B member 2 isoform X7

UniProtKB/TrEMBL

Q3U674

Conserved Domains (3) summary

cd01271
Location:563 → 689

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:395 → 534

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
XM_030254078.2 → XP_030109938.1 amyloid beta precursor protein binding family B member 2 isoform X2

UniProtKB/Swiss-Prot

Q6DFX8, Q9DBR4

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:584 → 710

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:416 → 555

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
XM_006503691.5 → XP_006503754.1 amyloid beta precursor protein binding family B member 2 isoform X1

See identical proteins and their annotated locations for XP_006503754.1

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:585 → 711

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:417 → 556

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_030254079.2 → XP_030109939.1 amyloid beta precursor protein binding family B member 2 isoform X2

UniProtKB/Swiss-Prot

Q6DFX8, Q9DBR4

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:584 → 710

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:416 → 555

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
XM_006503690.5 → XP_006503753.1 amyloid beta precursor protein binding family B member 2 isoform X1

See identical proteins and their annotated locations for XP_006503753.1

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:585 → 711

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:417 → 556

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_030254080.2 → XP_030109940.1 amyloid beta precursor protein binding family B member 2 isoform X7

UniProtKB/TrEMBL

Q3U674

Conserved Domains (3) summary

cd01271
Location:563 → 689

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:395 → 534

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
XM_030254082.2 → XP_030109942.1 amyloid beta precursor protein binding family B member 2 isoform X10

UniProtKB/TrEMBL

Q3U674

Conserved Domains (3) summary

cd01271
Location:561 → 687

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:396 → 533

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_006503694.5 → XP_006503757.1 amyloid beta precursor protein binding family B member 2 isoform X8

See identical proteins and their annotated locations for XP_006503757.1

UniProtKB/TrEMBL

E9PWH3, Q3U674

Conserved Domains (3) summary

cd01271
Location:562 → 688

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:396 → 533

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_006503693.5 → XP_006503756.1 amyloid beta precursor protein binding family B member 2 isoform X6

UniProtKB/TrEMBL

Q3U674

Conserved Domains (3) summary

cd01271
Location:564 → 690

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:396 → 535

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_006503692.5 → XP_006503755.1 amyloid beta precursor protein binding family B member 2 isoform X5

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:582 → 708

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:417 → 554

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_017320620.3 → XP_017176109.1 amyloid beta precursor protein binding family B member 2 isoform X4

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:583 → 709

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:417 → 554

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_011240693.4 → XP_011238995.1 amyloid beta precursor protein binding family B member 2 isoform X3

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:584 → 710

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:417 → 556

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_006503688.5 → XP_006503751.1 amyloid beta precursor protein binding family B member 2 isoform X1

See identical proteins and their annotated locations for XP_006503751.1

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:585 → 711

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:417 → 556

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_036164747.1 → XP_036020640.1 amyloid beta precursor protein binding family B member 2 isoform X7

UniProtKB/TrEMBL

Q3U674

Conserved Domains (3) summary

cd01271
Location:563 → 689

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:395 → 534

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:292 → 320

WW; WW domain
XM_036164746.1 → XP_036020639.1 amyloid beta precursor protein binding family B member 2 isoform X1

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01271
Location:585 → 711

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:417 → 556

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain
XM_017320622.3 → XP_017176111.1 amyloid beta precursor protein binding family B member 2 isoform X12

Conserved Domains (3) summary

cd01271
Location:311 → 437

PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain

cd01272
Location:143 → 282

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:19 → 47

WW; WW domain
XM_036164749.1 → XP_036020642.1 amyloid beta precursor protein binding family B member 2 isoform X11

UniProtKB/TrEMBL

E9QPX0

Conserved Domains (3) summary

cd01272
Location:417 → 556

PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

pfam00397
Location:293 → 321

WW; WW domain

cl17171
Location:585 → 647

PH-like; Pleckstrin homology-like domain