Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9856
Gene name	KIAA0319
Gene symbol	KIAA0319
Synonyms (NCBI Gene)	DYLX2DYX2NMIG
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

Show/Hide all (54)

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

Show/Hide all (26)

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

MIM	HGNC	e!Ensembl
609269	21580	ENSG00000137261

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

Interactions

View interactions

	Reactome
			Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs146550659	RCV005938728
KIAA0319-related disorder	Likely benign; Benign; Uncertain significance	rs200254558, rs807535, rs150584710, rs4576240, rs807541, rs807534, rs2243831, rs141038527, rs141315468, rs146550659, rs113411083, rs138139227, rs767248792, rs766972047, rs4504469, rs114195393, rs10946705 View all (2 more)	RCV003964586 RCV003974349 RCV003904390 RCV003979818 RCV003984690 RCV003982402 RCV003982293 RCV003959506 RCV003931754 RCV003914375 RCV003924375 RCV003958947 RCV003959185 RCV003954457 RCV003979022 RCV003905900 RCV003930470

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	27484312
Apraxias	Associate	39202429
Atrophy	Associate	27484312
Attention Deficit Disorder with Hyperactivity	Associate	19362708
Death	Associate	32596987
Depressive Disorder	Associate	35907915
Dyslexia	Associate	10507721, 15717286, 19325871, 19419997, 20697954, 20846247, 21165691, 21207242, 21438145, 22262880, 23176554, 24022301, 25015435, 25339756, 25778907 View all (13 more)
Dyslexia Acquired	Associate	15514892, 16278297, 19085271, 19362708, 19588467, 21207242, 22262880, 23746548, 24509779, 28866788, 32596987
Frontotemporal Dementia	Associate	27484312
Glioblastoma	Associate	38150033
Glioma	Associate	38150033
Immunoglobulin G4 Related Disease	Associate	15514892, 19588467, 21457949, 28866788
Language Development Disorders	Associate	22262880
Language Disorders	Associate	22262880, 24509779, 25778907, 25953057, 37629793, 39202429
Learning Disabilities	Associate	19419997
Lymphoma Follicular	Associate	38150033
Parkinson Disease	Associate	38272954
Polypoidal Choroidal Vasculopathy	Associate	22549408
Schizophrenia	Associate	24447899
Specific Learning Disorder	Associate	37629793
Speech Sound Disorder	Associate	25778907
Substance Related Disorders	Associate	27484312

KIAA0319 (KIAA0319)