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APLP2 amyloid beta precursor like protein 2 [ Homo sapiens (human) ]

Gene ID: 334, updated on 7-Jun-2020

Summary

Official Symbol
APLP2provided by HGNC
Official Full Name
amyloid beta precursor like protein 2provided by HGNC
Primary source
HGNC:HGNC:598
See related
Ensembl:ENSG00000084234 MIM:104776
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
APPH; APPL2; CDEBP; APLP-2
Summary
This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in thyroid (RPKM 347.8), lung (RPKM 236.7) and 24 other tissues See more
Orthologs

Genomic context

See APLP2 in Genome Data Viewer
Location:
11q24.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (130069894..130144811)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (129939716..130014706)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13105 Neighboring gene uncharacterized LOC107984432 Neighboring gene ribosomal protein L34 pseudogene 21 Neighboring gene ST14 transmembrane serine protease matriptase Neighboring gene zinc finger and BTB domain containing 44 Neighboring gene NDUFAF2 pseudogene 2

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ST14

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
transition metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
amyloid-like protein 2
Names
CDEI box-binding protein
amyloid beta (A4) precursor-like protein 2
amyloid precursor protein homolog HSD-2
testicular tissue protein Li 23

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_029770.1 RefSeqGene

    Range
    5074..79985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142276.2NP_001135748.1  amyloid-like protein 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001135748.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2 which lacks an internal segment in the C-terminal region, compared to isoform 1.
    Source sequence(s)
    AK056883, BC000373, BM992563, DC336210
    Consensus CDS
    CCDS44773.1
    UniProtKB/Swiss-Prot
    Q06481
    UniProtKB/TrEMBL
    A0A140VJE9
    Related
    ENSP00000345444.5, ENST00000338167.9
    Conserved Domains (6) summary
    smart00006
    Location:42204
    A4_EXTRA; amyloid A4
    pfam00014
    Location:309361
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam02177
    Location:49147
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:697747
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:149204
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:365547
    APP_E2; E2 domain of amyloid precursor protein
  2. NM_001142277.2NP_001135749.1  amyloid-like protein 2 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001135749.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. It encodes isoform 3 which lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AK056883, AK304736, BM992563, DC336210
    Consensus CDS
    CCDS44774.1
    UniProtKB/Swiss-Prot
    Q06481
    UniProtKB/TrEMBL
    B4E3I5
    Related
    ENSP00000435914.1, ENST00000528499.5
    Conserved Domains (5) summary
    smart00006
    Location:42204
    A4_EXTRA; amyloid A4
    pfam02177
    Location:49147
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:641691
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:149204
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:309491
    APP_E2; E2 domain of amyloid precursor protein
  3. NM_001142278.2NP_001135750.1  amyloid-like protein 2 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple exons in the coding region, compared to variant 1. The reading frame is not affected, and this variant encodes isoform 4 which lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AK056883, BC004371, BM992563, DC336210
    Consensus CDS
    CCDS44775.1
    UniProtKB/Swiss-Prot
    Q06481
    Related
    ENSP00000263575.6, ENST00000345598.9
    Conserved Domains (3) summary
    pfam10515
    Location:468518
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:136318
    APP_E2; E2 domain of amyloid precursor protein
    cl26273
    Location:42137
    APP_N; Amyloid A4 N-terminal heparin-binding
  4. NM_001243299.1NP_001230228.1  amyloid-like protein 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' exon and also lacks an in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 5 which has a different N-terminus and lacks an internal segment in the C-terminal region, compared to isoform 1.
    Source sequence(s)
    AK056883, AK128162, BC000373, BM992563
    Consensus CDS
    CCDS58196.1
    UniProtKB/Swiss-Prot
    Q06481
    Related
    ENSP00000278756.7, ENST00000278756.7
    Conserved Domains (6) summary
    smart00006
    Location:52214
    A4_EXTRA; amyloid A4
    pfam00014
    Location:319371
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam02177
    Location:59157
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:707757
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:159214
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:375557
    APP_E2; E2 domain of amyloid precursor protein
  5. NM_001328682.2NP_001315611.1  amyloid-like protein 2 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041, BM992563
  6. NM_001328684.2NP_001315613.1  amyloid-like protein 2 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041, BM992563
  7. NM_001328685.2NP_001315614.1  amyloid-like protein 2 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041, BM992563
  8. NM_001328686.2NP_001315615.1  amyloid-like protein 2 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041, BM992563
  9. NM_001382526.1NP_001369455.1  amyloid-like protein 2 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  10. NM_001382527.1NP_001369456.1  amyloid-like protein 2 isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  11. NM_001382528.1NP_001369457.1  amyloid-like protein 2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  12. NM_001382529.1NP_001369458.1  amyloid-like protein 2 isoform 13 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  13. NM_001382530.1NP_001369459.1  amyloid-like protein 2 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  14. NM_001382531.1NP_001369460.1  amyloid-like protein 2 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  15. NM_001382532.1NP_001369461.1  amyloid-like protein 2 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  16. NM_001382533.1NP_001369462.1  amyloid-like protein 2 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  17. NM_001382534.1NP_001369463.1  amyloid-like protein 2 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  18. NM_001382535.1NP_001369464.1  amyloid-like protein 2 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  19. NM_001382536.1NP_001369465.1  amyloid-like protein 2 isoform 20

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  20. NM_001382537.1NP_001369466.1  amyloid-like protein 2 isoform 21

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  21. NM_001382538.1NP_001369467.1  amyloid-like protein 2 isoform 22 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  22. NM_001382539.1NP_001369468.1  amyloid-like protein 2 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  23. NM_001382540.1NP_001369469.1  amyloid-like protein 2 isoform 24

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  24. NM_001382541.1NP_001369470.1  amyloid-like protein 2 isoform 25

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  25. NM_001382542.1NP_001369471.1  amyloid-like protein 2 isoform 26

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  26. NM_001382543.1NP_001369472.1  amyloid-like protein 2 isoform 27

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  27. NM_001382544.1NP_001369473.1  amyloid-like protein 2 isoform 28

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  28. NM_001382545.1NP_001369474.1  amyloid-like protein 2 isoform 29

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  29. NM_001382546.1NP_001369475.1  amyloid-like protein 2 isoform 30 precursor

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  30. NM_001642.3NP_001633.1  amyloid-like protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK056883, BM992563, DC336210, Z22572
    Consensus CDS
    CCDS8486.1
    UniProtKB/Swiss-Prot
    Q06481
    Related
    ENSP00000263574.5, ENST00000263574.9
    Conserved Domains (6) summary
    smart00006
    Location:42204
    A4_EXTRA; amyloid A4
    pfam00014
    Location:309361
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam02177
    Location:49147
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:709759
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12924
    Location:149204
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam12925
    Location:365547
    APP_E2; E2 domain of amyloid precursor protein

RNA

  1. NR_024515.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in multiple regions, compared to variant 1. The transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AK056883, BM992563, Z22572
  2. NR_024516.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in multiple regions, compared to variant 1. The transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AK056883, AK300378, BM992563
  3. NR_168388.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  4. NR_168389.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  5. NR_168390.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  6. NR_168391.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  7. NR_168392.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  8. NR_168393.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041
  9. NR_168394.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001183, AP003041

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    130069894..130144811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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