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APBB2 amyloid beta precursor protein binding family B member 2 [ Homo sapiens (human) ]

Gene ID: 323, updated on 6-Jan-2019

Summary

Official Symbol
APBB2provided by HGNC
Official Full Name
amyloid beta precursor protein binding family B member 2provided by HGNC
Primary source
HGNC:HGNC:582
See related
Ensembl:ENSG00000163697 MIM:602710
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FE65L; FE65L1
Summary
The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in fat (RPKM 13.0), thyroid (RPKM 11.7) and 24 other tissues See more
Orthologs

Genomic context

See APBB2 in Genome Data Viewer
Location:
4p14-p13
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (40810027..41216714, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (40812044..41218731, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986225 Neighboring gene NOP2/Sun RNA methyltransferase family member 7 Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 2 Neighboring gene uncharacterized LOC107986273 Neighboring gene RNA, 5S ribosomal pseudogene 160 Neighboring gene RNA, U6 small nuclear 836, pseudogene Neighboring gene RNA, U6 small nuclear 1195, pseudogene Neighboring gene UCHL1 antisense RNA 1 (head to head) Neighboring gene ubiquitin C-terminal hydrolase L1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition.
NHGRI GWA Catalog
Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC35575, DKFZp434E033

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid-beta binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
amyloid-beta A4 precursor protein-binding family B member 2
Names
Fe65-like 1
protein Fe65-like 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_013337.1 RefSeqGene

    Range
    5001..409592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166050.1NP_001159522.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform b

    See identical proteins and their annotated locations for NP_001159522.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
    Source sequence(s)
    AC131953, AK295974, AK304247, AL080130, BC027946, DB236935
    Consensus CDS
    CCDS54761.1
    UniProtKB/Swiss-Prot
    Q92870
    UniProtKB/TrEMBL
    B4DJ88, B4E2F2
    Related
    ENSP00000295974.8, ENST00000295974.12
    Conserved Domains (3) summary
    cd01271
    Location:582708
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:416553
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  2. NM_001166051.1NP_001159523.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform d

    See identical proteins and their annotated locations for NP_001159523.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the presence and absence of exons in the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The resulting isoform (d) is significantly shorter at the N-terminus, compared to isoform a. Variants 4, 5, 6 and 7 encode the same isoform.
    Source sequence(s)
    AC131953, AL080130, BU184203, BX440903, DC400218
    Consensus CDS
    CCDS54760.1
    UniProtKB/Swiss-Prot
    Q92870
    Related
    ENSP00000423765.1, ENST00000504305.5
    Conserved Domains (1) summary
    cd01271
    Location:34160
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
  3. NM_001166052.1NP_001159524.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform d

    See identical proteins and their annotated locations for NP_001159524.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the presence and absence of exons in the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The resulting isoform (d) is significantly shorter at the N-terminus, compared to isoform a. Variants 4, 5, 6 and 7 encode the same isoform.
    Source sequence(s)
    AC131953, AK299800, AL080130, DC400218
    Consensus CDS
    CCDS54760.1
    UniProtKB/Swiss-Prot
    Q92870
    Related
    ENSP00000425802.1, ENST00000502841.5
    Conserved Domains (1) summary
    cd01271
    Location:34160
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
  4. NM_001166053.1NP_001159525.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform d

    See identical proteins and their annotated locations for NP_001159525.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the presence and absence of exons in the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The resulting isoform (d) is significantly shorter at the N-terminus, compared to isoform a. Variants 4, 5, 6 and 7 encode the same isoform.
    Source sequence(s)
    AC131953, AL080130, CX782504, DC372060, DC377693
    Consensus CDS
    CCDS54760.1
    UniProtKB/Swiss-Prot
    Q92870
    Conserved Domains (1) summary
    cd01271
    Location:34160
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
  5. NM_001166054.1NP_001159526.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform d

    See identical proteins and their annotated locations for NP_001159526.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the presence and absence of exons in the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The resulting isoform (d) is significantly shorter at the N-terminus, compared to isoform a. Variants 4, 5, 6 and 7 encode the same isoform.
    Source sequence(s)
    AC131953, AL080130, CX782504, DC372060, DC377357
    Consensus CDS
    CCDS54760.1
    UniProtKB/Swiss-Prot
    Q92870
    Conserved Domains (1) summary
    cd01271
    Location:34160
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
  6. NM_001330656.1NP_001317585.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (e) that is shorter than isoform a. Variants 8 and 9 encode the same isoform.
    Source sequence(s)
    AC093804, AC131953, AL080130, BC027946, BC088372, DB078521, DB236935
    Consensus CDS
    CCDS82918.1
    UniProtKB/Swiss-Prot
    Q92870
    UniProtKB/TrEMBL
    G5E9Y1, Q5I0G1
    Related
    ENSP00000421539.1, ENST00000506352.5
    Conserved Domains (3) summary
    cd01271
    Location:561687
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:395532
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  7. NM_001330658.1NP_001317587.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an exon in the 5' UTR, uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (e) that is shorter than isoform a. Variants 8 and 9 encode the same isoform.
    Source sequence(s)
    AC093804, AC131953, AL080130, AL596608, BC027946, BC088372, DB236935
    Consensus CDS
    CCDS82918.1
    UniProtKB/Swiss-Prot
    Q92870
    UniProtKB/TrEMBL
    G5E9Y1, Q5I0G1
    Conserved Domains (3) summary
    cd01271
    Location:561687
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:395532
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  8. NM_004307.2NP_004298.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC131953, AK226179, AK295974, AL080130, DB236935
    Consensus CDS
    CCDS54762.1
    UniProtKB/TrEMBL
    B4DJ88
    Related
    ENSP00000427211.1, ENST00000508593.5
    Conserved Domains (3) summary
    cd01271
    Location:583709
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:417554
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  9. NM_173075.4NP_775098.2  amyloid-beta A4 precursor protein-binding family B member 2 isoform c

    See identical proteins and their annotated locations for NP_775098.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate in-frame splice sites and lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AC093804, AC131953, AL080130, BC027946, DB236935
    Consensus CDS
    CCDS43224.1
    UniProtKB/Swiss-Prot
    Q92870
    Related
    ENSP00000426018.1, ENST00000513140.5
    Conserved Domains (3) summary
    cd01271
    Location:560686
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:395532
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    40810027..41216714 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008147.2XP_016863636.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X4

  2. XM_017008149.2XP_016863638.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X5

  3. XM_017008156.2XP_016863645.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X9

  4. XM_017008146.2XP_016863635.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X4

  5. XM_017008157.2XP_016863646.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X9

  6. XM_017008148.2XP_016863637.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X4

  7. XM_011513687.3XP_011511989.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X8

    Conserved Domains (3) summary
    cd01271
    Location:562688
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:396533
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  8. XM_006714005.4XP_006714068.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X1

    See identical proteins and their annotated locations for XP_006714068.1

    Conserved Domains (3) summary
    cd01271
    Location:585711
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:417556
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  9. XM_017008158.2XP_016863647.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X10

    Related
    ENSP00000427307.1, ENST00000513611.5
  10. XM_017008154.2XP_016863643.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X8

    Conserved Domains (3) summary
    cd01271
    Location:562688
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:396533
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  11. XM_017008151.2XP_016863640.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X6

    Conserved Domains (3) summary
    cd01271
    Location:564690
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:396535
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  12. XM_017008145.2XP_016863634.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X3

    UniProtKB/Swiss-Prot
    Q92870
    Conserved Domains (3) summary
    cd01271
    Location:583709
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:417554
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  13. XM_006714012.4XP_006714075.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X7

    Conserved Domains (3) summary
    cd01271
    Location:563689
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:395534
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  14. XM_006714010.4XP_006714073.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X2

    Conserved Domains (3) summary
    cd01271
    Location:584710
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:416555
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  15. XM_006714011.4XP_006714074.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X6

    Conserved Domains (3) summary
    cd01271
    Location:564690
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:396535
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  16. XM_017008143.2XP_016863632.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X2

    Conserved Domains (3) summary
    cd01271
    Location:584710
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:416555
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  17. XM_006714007.4XP_006714070.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X1

    See identical proteins and their annotated locations for XP_006714070.1

    Conserved Domains (3) summary
    cd01271
    Location:585711
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:417556
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  18. XM_017008144.2XP_016863633.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X2

    Conserved Domains (3) summary
    cd01271
    Location:584710
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:416555
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  19. XM_011513686.3XP_011511988.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X1

    See identical proteins and their annotated locations for XP_011511988.1

    Conserved Domains (3) summary
    cd01271
    Location:585711
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:417556
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  20. XM_006714009.4XP_006714072.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X1

    See identical proteins and their annotated locations for XP_006714072.1

    Conserved Domains (3) summary
    cd01271
    Location:585711
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:417556
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  21. XM_017008152.2XP_016863641.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X7

    Conserved Domains (3) summary
    cd01271
    Location:563689
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:395534
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:292320
    WW; WW domain
  22. XM_006714008.4XP_006714071.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X1

    See identical proteins and their annotated locations for XP_006714071.1

    Conserved Domains (3) summary
    cd01271
    Location:585711
    PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
    cd01272
    Location:417556
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
  23. XM_011513688.3XP_011511990.1  amyloid-beta A4 precursor protein-binding family B member 2 isoform X11

    Conserved Domains (2) summary
    cd01272
    Location:417510
    PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    pfam00397
    Location:293321
    WW; WW domain
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