• Gene id: 22839

Gene Summary

• Gene Symbol: DLGAP4   Gene   UCSC   Ensembl
• Aliases: DAP-4, DAP4, DLP4, SAPAP-4, SAPAP4
• Gene name: DLG associated protein 4
• Alternate names: disks large-associated protein 4, PSD-95/SAP90-binding protein 4, SAP90/PSD-95-associated protein 4, discs large homolog associated protein 4,
• Gene location: 20q11.23 (36306338: 36528634)     Exons: 17     NC_000020.11
• Gene summary(Entrez): The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein e
• OMIM: 616191

Protein Summary

• Protein general information: Q9Y2H0  
  • Name: Disks large associated protein 4 (DAP 4) (PSD 95/SAP90 binding protein 4) (SAP90/PSD 95 associated protein 4) (SAPAP 4)
  • Length: 992  
  • Mass: 108012
• Sequence:

  MKGLGDSRPRHLSDSLDPPHEPLFAGTDRNPYLLSPTEAFAREARFPGQNTLPGDGLFPLNNQLPPPSSTFPRIH
  YNSHFEVPEESPFPSHAQATKINRLPANLLDQFEKQLPIHRDGFSTLQFPRGEAKARGESPGRIRHLVHSVQRLF
  FTKAPSLEGTAGKVGGNGSKKGGMEDGKGRRAKSKERAKAGEPKRRSRSNISGWWSSDDNLDGEAGAFRSSGPAS
  GLMTLGRQAERSQPRYFMHAYNTISGHMLKTTKNNTTELTAPPPPPAPPATCPSLGVGTDTNYVKRGSWSTLTLS
  HAHEVCQKTSATLDKSLLKSKSCHQGLAYHYLQVPGGGGEWSTTLLSPRETDAAAEGPIPCRRMRSGSYIKAMGD
  EDSDESGGSPKPSPKTAARRQSYLRATQQSLGEQSNPRRSLDRLDSVDMLLPSKCPSWEEDYTPVSDSLNDSSCI
  SQIFGQASLIPQLFGHEQQVREAELSDQYEAACESACSEAESTAAETLDLPLPSYFRSRSHSYLRAIQAGCSQEE
  DSVSLQSLSPPPSTGSLSNSRTLPSSSCLVAYKKTPPPVPPRTTSKPFISVTVQSSTESAQDTYLDSQDHKSEVT
  SQSGLSNSSDSLDSSTRPPSVTRGGVAPAPEAPEPPPKHAALKSEQGTLTSSESHPEAAPKRKLSSIGIQVDCIQ
  PVPKEEPSPATKFQSIGVQVEDDWRSSVPSHSMSSRRDTDSDTQDANDSSCKSSERSLPDCTPHPNSISIDAGPR
  QAPKIAQIKRNLSYGDNSDPALEASSLPPPDPWLETSSSSPAEPAQPGACRRDGYWFLKLLQAETERLEGWCCQM
  DKETKENNLSEEVLGKVLSAVGSAQLLMSQKFQQFRGLCEQNLNPDANPRPTAQDLAGFWDLLQLSIEDISMKFD
  ELYHLKANSWQLVETPEKRKEEKKPPPPVPKKPAKSKPAVSRDKASDASDKQRQEARKRLLAAKRAASVRQNSAT
  ESADSIEIYVPEAQTRL

• Structural information:
  • Interpro: IPR030527  IPR005026  
  • STRING: ENSP00000363023
• Other Databases: GeneCards:  DLGAP4  Malacards:  DLGAP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0023052	signaling	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
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:0099572	postsynaptic specialization	IEA	cellular component
GO:0098981	cholinergic synapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray