• Gene id: 323

Gene Summary

• Gene Symbol: APBB2   Gene   UCSC   Ensembl
• Aliases: FE65L, FE65L1
• Gene name: amyloid beta precursor protein binding family B member 2
• Alternate names: amyloid-beta A4 precursor protein-binding family B member 2, Fe65-like 1, protein Fe65-like 1,
• Gene location: 4p14-p13 (25696878: 25673194)     Exons: 6     NC_000020.11
• Gene summary(Entrez): 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 i
• OMIM: 602710

Protein Summary

• Protein general information: Q92870  
  • Name: Amyloid beta A4 precursor protein binding family B member 2 (Protein Fe65 like 1)
  • Length: 758  
  • Mass: 83374
• Sequence:

  MSEVLPADSGVDTLAVFMASSGTTDVTNRNSPATPPNTLNLRSSHNELLNAEIKHTETKNSTPPKCRKKYALTNI
  QAAMGLSDPAAQPLLGNGSANIKLVKNGENQLRKAAEQGQQDPNKNLSPTAVINITSEKLEGKEPHPQDSSSCEI
  LPSQPRRTKSFLNYYADLETSARELEQNRGNHHGTAEEKSQPVQGQASTIIGNGDLLLQKPNRPQSSPEDGQVAT
  VSSSPETKKDHPKTGAKTDCALHRIQNLAPSDEESSWTTLSQDSASPSSPDETDIWSDHSFQTDPDLPPGWKRVS
  DIAGTYYWHIPTGTTQWERPVSIPADLQGSRKGSLSSVTPSPTPENEKQPWSDFAVLNGGKINSDIWKDLHAATV
  NPDPSLKEFEGATLRYASLKLRNAPHPDDDDSCSINSDPEAKCFAVRSLGWVEMAEEDLAPGKSSVAVNNCIRQL
  SYCKNDIRDTVGIWGEGKDMYLILENDMLSLVDPMDRSVLHSQPIVSIRVWGVGRDNGRDFAYVARDKDTRILKC
  HVFRCDTPAKAIATSLHEICSKIMAERKNAKALACSSLQERANVNLDVPLQVDFPTPKTELVQKFHVQYLGMLPV
  DKPVGMDILNSAIENLMTSSNKEDWLSVNMNVADATVTVISEKNEEEVLVECRVRFLSFMGVGKDVHTFAFIMDT
  GNQRFECHVFWCEPNAGNVSEAVQAACMLRYQKCLVARPPSQKVRPPPPPADSVTRRVTTNVKRGVLSLIDTLKQ
  KRPVTEMP

• Structural information:
  • Protein Domains: (290..32-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (413..57-)
    (/note="PID-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148-)
    (584..73-)
    (/note="PID-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR039576  IPR011993  IPR006020  IPR001202  IPR036020  
  • Prosite: PS01179 PS01159 PS50020
  • CDD: cd00201
  • STRING: ENSP00000427211
• Other Databases: GeneCards:  APBB2  Malacards:  APBB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007411	axon guidance	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0008134	transcription factor binding	ISS	molecular function
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0001540	amyloid-beta binding	ISS	molecular function
GO:0030308	negative regulation of cell growth	ISS	biological process
GO:0007050	cell cycle arrest	ISS	biological process
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0030426	growth cone	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0016020	membrane	NAS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Alzheimer's disease	PMID:15714520
Cognitive disorder	PMID:23384821
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq