KIAA0319 (KIAA0319)

Gene

• Entrez ID: 9856
• Gene name: KIAA0319
• Gene symbol: KIAA0319
• Synonyms (NCBI Gene): DYLX2, DYX2, NMIG
• Chromosome: 6
• Chromosome location: 6p22.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT642838	hsa-miR-99a-3p	HITS-CLIP	23824327
MIRT642837	hsa-miR-99b-3p	HITS-CLIP	23824327
MIRT642836	hsa-miR-6796-3p	HITS-CLIP	23824327
MIRT642835	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT642834	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT642833	hsa-miR-4268	HITS-CLIP	23824327
MIRT642832	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT642831	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT642830	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT642829	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT642828	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT642838	hsa-miR-99a-3p	HITS-CLIP	23824327
MIRT642837	hsa-miR-99b-3p	HITS-CLIP	23824327
MIRT642836	hsa-miR-6796-3p	HITS-CLIP	23824327
MIRT642835	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT642834	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT642833	hsa-miR-4268	HITS-CLIP	23824327
MIRT642832	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT642831	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT642830	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT642829	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT642828	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT1087001	hsa-miR-2113	CLIP-seq
MIRT1087002	hsa-miR-218	CLIP-seq
MIRT1087003	hsa-miR-4481	CLIP-seq
MIRT1087004	hsa-miR-4718	CLIP-seq
MIRT1087005	hsa-miR-4745-5p	CLIP-seq
MIRT1087006	hsa-miR-629	CLIP-seq
MIRT1087007	hsa-miR-1185	CLIP-seq
MIRT1087008	hsa-miR-200b	CLIP-seq
MIRT1087009	hsa-miR-200c	CLIP-seq
MIRT1087010	hsa-miR-3148	CLIP-seq
MIRT1087011	hsa-miR-3605-5p	CLIP-seq
MIRT1087012	hsa-miR-3679-5p	CLIP-seq
MIRT1087013	hsa-miR-4281	CLIP-seq
MIRT1087014	hsa-miR-429	CLIP-seq
MIRT1087015	hsa-miR-4668-5p	CLIP-seq
MIRT1087016	hsa-miR-4789-3p	CLIP-seq
MIRT1087017	hsa-miR-505	CLIP-seq
MIRT2022779	hsa-miR-1	CLIP-seq
MIRT2022780	hsa-miR-1293	CLIP-seq
MIRT2022781	hsa-miR-206	CLIP-seq
MIRT2022782	hsa-miR-4307	CLIP-seq
MIRT2022783	hsa-miR-4483	CLIP-seq
MIRT2022784	hsa-miR-4761-5p	CLIP-seq
MIRT2022785	hsa-miR-613	CLIP-seq
MIRT2253831	hsa-miR-3929	CLIP-seq
MIRT2253832	hsa-miR-4419b	CLIP-seq
MIRT2253833	hsa-miR-4478	CLIP-seq
MIRT2253834	hsa-miR-4755-3p	CLIP-seq
MIRT2438125	hsa-miR-4279	CLIP-seq
MIRT2022784	hsa-miR-4761-5p	CLIP-seq
MIRT2438125	hsa-miR-4279	CLIP-seq
MIRT2022784	hsa-miR-4761-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IGI	19679544
GO:0005515	Function	Protein binding	IPI	19419997
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	19419997
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19419997
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007399	Process	Nervous system development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0021794	Process	Thalamus development	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0030517	Process	Negative regulation of axon extension	IMP	28334068
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031901	Component	Early endosome membrane	IEA
GO:0033555	Process	Multicellular organismal response to stress	IEA
GO:0042297	Process	Vocal learning	IEA
GO:0048692	Process	Negative regulation of axon extension involved in regeneration	IEA
GO:0048692	Process	Negative regulation of axon extension involved in regeneration	IMP	28334068
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IGI	28334068
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	28334068
GO:2000171	Process	Negative regulation of dendrite development	IGI	19679544

Other IDs

• MIM: 609269
• HGNC: 21580
• e!Ensembl: ENSG00000137261

Protein

• UniProt ID: Q5VV43
• Protein name: Dyslexia-associated protein KIAA0319
• Protein function: Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also r
• PDB: 2E7M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02010	REJ	466 → 682	REJ domain	Family

• Tissue specificity: 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:0000269|PubMed:12834540, ECO:0000269|PubMed:17846832}.
• Sequence:

  MAPPTGVLSSLLLLVTIAGCARKQCSEGRTYSNAVISPNLETTRIMRVSHTFPVVDCTAA
  CCDLSSCDLAWWFEGRCYLVSCPHKENCEPKKMGPIRSYLTFVLRPVQRPAQLLDYGDMM
  LNRGSPSGIWGDSPEDIRKDLTFLGKDWGLEEMSEYSDDYRELEKDLLQPSGKQEPRGSA
  EYTDWGLLPGSEGAFNSSVGDSPAVPAETQQDPELHYLNESASTPAPKLPERSVLLPLPT
  TPSSGEVLEKEKASQLQEQSSNSSGKEVLMPSHSLPPASLELSSVTVEKSPVLTVTPGST
  EHSIPTPPTSAAPSESTPSELPISPTTAPRTVKELTVSAGDNLIITLPDNEVELKAFVAP
  APPVETTYNYEWNLISHPTDYQGEIKQGHKQTLNLSQLSVGLYVFKVTVSSENAFGEGFV
  NVTVKPARRVNLPPVAVVSPQLQELTLPLTSALIDGSQSTDDTEIVSYHWEEINGPFIEE
  KTSVDSPVLRLSNLDPGNYSFRLTVTDSDGATNSTTAALIVNNAVDYPPVANAGPNHTIT
  LPQNSITLNGNQSSDDHQIVLYEWSLGPGSEGKHVVMQGVQTPYLHLSAMQEGDYTFQLK
  VTDSSRQQSTAVVTVIVQPENNRPPVAVAGPDKELIFPVESATLDGSSSSDDHGIVFYHW
  EHVRGPSAVEMENIDKAIATVTGLQVGTYHFRLTVKDQQGLSSTSTLTVAVKKENNSPPR
  ARAGGRHVLVLPNNSITLDGSRSTDDQRIVSYLWIRDGQSPAAGDVIDGSDHSVALQLTN
  LVEGVYTFHLRVTDSQGASDTDTATVEVQPDPRKSGLVELTLQVGVGQLTEQRKDTLVRQ
  LAVLLNVLDSDIKVQKIRAHSDLSTVIVFYVQSRPPFKVLKAAEVARNLHMRLSKEKADF
  LLFKVLRVDTAGCLLKCSGHGHCDPLTKRCICSHLWMENLIQRYIWDGESNCEWSIFYVT
  VLAFTLIVLTGGFTWLCICCCKRQKRTKIRKKTKYTILDNMDEQERMELRPKYGIKHRST
  EHNSSLMVSESEFDSDQDTIFSREKMERGNPKVSMNGSIRNGASFSYCSKDR

• Sequence length: 1072

Pathways

Reactome:

Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIAA0319-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Apraxias	Apraxia	Pubtator	39202429	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	27484312	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19362708	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26518331		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35907915	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	24430574		★☆☆☆☆ Found in Text Mining only
Developmental reading disorder	Developmental dyslexia	BEFREE	15717286, 17033633, 17846832, 18063668, 19419997, 20068590, 20697954, 21203818, 21203819, 23677054, 24430574, 25230923, 25877001, 26184631, 26452339, 27098879, 27464509, 28182973, 29066855		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	10507721, 15717286, 16278297, 16600991, 16781891, 17450541, 17597587, 17846832, 18063668, 18810304, 18829873, 19302769, 19325871, 20697954, 20943657, 21104116, 21165691, 21184582, 21207242, 22262880, 22326444, 22558177, 22750057, 23065966, 23677054, 23746548, 24301907, 24509779, 24769279, 25015435, 25339756, 25778907, 26400686, 27098879, 27451412, 28074887, 28182973, 28334068, 28958754, 29894888, 30379906, 30950042		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	10507721, 15717286, 19325871, 19419997, 20697954, 20846247, 21165691, 21207242, 21438145, 22262880, 23176554, 24022301, 25015435, 25339756, 25778907, 25953057, 26400686, 27098879, 27484312, 28074887, 28182973, 28839234, 29894888, 30379906, 35031635, 37259151, 39202429, 40424442	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	LHGDN	15717286, 18829873		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	18063668, 30742069		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	27484312	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38150033	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38150033	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	22262880	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	21457949		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	22262880, 24509779, 25778907, 25953057, 37629793, 39202429	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	19419997	Associate	★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	23495356		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	38150033	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	23495356		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22558177		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38272954	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	18063668, 30742069		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	24824133		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22669497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24447899	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wernicke Encephalopathy	Wernicke Encephalopathy	BEFREE	22669497		★☆☆☆☆ Found in Text Mining only