• Gene id: 9856

Gene Summary

• Gene Symbol: KIAA0319   Gene   UCSC   Ensembl
• Aliases: AAVR, DYLX2, DYX2, NMIG
• Gene name: KIAA0319
• Alternate names: dyslexia-associated protein KIAA0319, AAV receptor, dyslexia susceptibility 2, neuronal migration,
• Gene location: 6p22.3 (24646190: 24540127)     Exons: 21     NC_000006.12
• Gene summary(Entrez): This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and
• OMIM: 609269

Protein Summary

• Protein general information: Q5VV43  
  • Name: Dyslexia associated protein KIAA0319
  • Length: 1072  
  • Mass: 117763
  • Tissue specificity: Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum. {ECO
• Sequence:

  MAPPTGVLSSLLLLVTIAGCARKQCSEGRTYSNAVISPNLETTRIMRVSHTFPVVDCTAACCDLSSCDLAWWFEG
  RCYLVSCPHKENCEPKKMGPIRSYLTFVLRPVQRPAQLLDYGDMMLNRGSPSGIWGDSPEDIRKDLTFLGKDWGL
  EEMSEYSDDYRELEKDLLQPSGKQEPRGSAEYTDWGLLPGSEGAFNSSVGDSPAVPAETQQDPELHYLNESASTP
  APKLPERSVLLPLPTTPSSGEVLEKEKASQLQEQSSNSSGKEVLMPSHSLPPASLELSSVTVEKSPVLTVTPGST
  EHSIPTPPTSAAPSESTPSELPISPTTAPRTVKELTVSAGDNLIITLPDNEVELKAFVAPAPPVETTYNYEWNLI
  SHPTDYQGEIKQGHKQTLNLSQLSVGLYVFKVTVSSENAFGEGFVNVTVKPARRVNLPPVAVVSPQLQELTLPLT
  SALIDGSQSTDDTEIVSYHWEEINGPFIEEKTSVDSPVLRLSNLDPGNYSFRLTVTDSDGATNSTTAALIVNNAV
  DYPPVANAGPNHTITLPQNSITLNGNQSSDDHQIVLYEWSLGPGSEGKHVVMQGVQTPYLHLSAMQEGDYTFQLK
  VTDSSRQQSTAVVTVIVQPENNRPPVAVAGPDKELIFPVESATLDGSSSSDDHGIVFYHWEHVRGPSAVEMENID
  KAIATVTGLQVGTYHFRLTVKDQQGLSSTSTLTVAVKKENNSPPRARAGGRHVLVLPNNSITLDGSRSTDDQRIV
  SYLWIRDGQSPAAGDVIDGSDHSVALQLTNLVEGVYTFHLRVTDSQGASDTDTATVEVQPDPRKSGLVELTLQVG
  VGQLTEQRKDTLVRQLAVLLNVLDSDIKVQKIRAHSDLSTVIVFYVQSRPPFKVLKAAEVARNLHMRLSKEKADF
  LLFKVLRVDTAGCLLKCSGHGHCDPLTKRCICSHLWMENLIQRYIWDGESNCEWSIFYVTVLAFTLIVLTGGFTW
  LCICCCKRQKRTKIRKKTKYTILDNMDEQERMELRPKYGIKHRSTEHNSSLMVSESEFDSDQDTIFSREKMERGN
  PKVSMNGSIRNGASFSYCSKDR

• Structural information:
  • Protein Domains: (21..9-)
    (/note="MANSC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00341-)
    (341..42-)
    (/note="PKD-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00151-)
    (435..52-)
    (/note="PKD-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00151-)
    (-)
  • Interpro: IPR003961  IPR013783  IPR013980  IPR011106  IPR022409   IPR002859  IPR000601  IPR035986  
  • Prosite: PS50986 PS50093
  • PDB: 2E7M
  • PDBsum: 2E7M
  • STRING: ENSP00000367459
• Other Databases: GeneCards:  KIAA0319  Malacards:  KIAA0319

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0001764	neuron migration	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:2000171	negative regulation of dendrite development	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:2000171	negative regulation of dendrite development	IGI	biological process
GO:0001764	neuron migration	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0048692	negative regulation of axon extension involved in regeneration	IMP	biological process
GO:0030517	negative regulation of axon extension	IMP	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IGI	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IGI	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0048692	negative regulation of axon extension involved in regeneration	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0033555	multicellular organismal response to stress	IEA	biological process
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Dyslexia	KEGG:H01899
Dyslexia	KEGG:H01899
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)