Details for: KIAA0319

Gene ID: 9856

Symbol: KIAA0319

Ensembl ID: ENSG00000137261

Description: KIAA0319

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.34
    Marker Score: 9,690
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.25
    Marker Score: 47,949
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.12
    Marker Score: 8,614
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.08
    Marker Score: 19,566
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2
    Marker Score: 75,924
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.99
    Marker Score: 122,437
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.93
    Marker Score: 19,975
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.92
    Marker Score: 14,718
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.89
    Marker Score: 37,664
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.8
    Marker Score: 17,099
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.79
    Marker Score: 60,553
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.79
    Marker Score: 3,710
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.75
    Marker Score: 15,072
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.7
    Marker Score: 62,701
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.68
    Marker Score: 6,486
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.64
    Marker Score: 24,547
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.59
    Marker Score: 2,452
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.59
    Marker Score: 2,667
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,704
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.45
    Marker Score: 844
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 872
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.33
    Marker Score: 1,155
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.26
    Marker Score: 826
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,817
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.05
    Marker Score: 441
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.05
    Marker Score: 709
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 798
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,049
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,342
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 375
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.9
    Marker Score: 1,712
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.89
    Marker Score: 2,049
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,288
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.86
    Marker Score: 235
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.85
    Marker Score: 326
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.8
    Marker Score: 3,723
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.79
    Marker Score: 363
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.79
    Marker Score: 5,977
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 705
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.75
    Marker Score: 390
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.73
    Marker Score: 1,478
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.72
    Marker Score: 381
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.71
    Marker Score: 225
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.71
    Marker Score: 11,058
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.7
    Marker Score: 2,398
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.69
    Marker Score: 680
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.67
    Marker Score: 316
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.66
    Marker Score: 1,896
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.63
    Marker Score: 415
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6
    Marker Score: 383
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.58
    Marker Score: 529
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 232
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.52
    Marker Score: 313
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.52
    Marker Score: 4,524
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.5
    Marker Score: 201
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.48
    Marker Score: 1,593
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.46
    Marker Score: 841
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.46
    Marker Score: 208
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.45
    Marker Score: 444
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.44
    Marker Score: 182
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.43
    Marker Score: 149
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.43
    Marker Score: 1,775
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.42
    Marker Score: 992
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 396
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.39
    Marker Score: 125
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.39
    Marker Score: 113
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.37
    Marker Score: 208
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.37
    Marker Score: 695
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.35
    Marker Score: 170
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.34
    Marker Score: 164
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.34
    Marker Score: 371
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.33
    Marker Score: 243
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.33
    Marker Score: 408
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.31
    Marker Score: 3,192
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.31
    Marker Score: 316
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.31
    Marker Score: 281
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.31
    Marker Score: 865
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.3
    Marker Score: 93
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.26
    Marker Score: 253
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.26
    Marker Score: 79
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.26
    Marker Score: 452
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.26
    Marker Score: 296
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.25
    Marker Score: 726
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 72
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.24
    Marker Score: 54
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.23
    Marker Score: 101
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The KIAA0319 gene exhibits the following key characteristics: 1. **Cellular localization**: The gene is primarily expressed in neurons, including chandelier interneurons, astrocytes, and dopaminergic neurons, in the cerebral cortex. 2. **Cargo recognition**: KIAA0319 is involved in cargo recognition for clathrin-mediated endocytosis, a process by which cells internalize proteins and lipids from the plasma membrane. 3. **Negative regulation of axon extension**: The gene plays a role in regulating axon extension, a process critical for neuronal development and regeneration. 4. **Positive regulation of Smad protein signal transduction**: KIAA0319 is involved in the regulation of Smad protein signal transduction, a pathway that plays a crucial role in cellular responses to transforming growth factor-beta (TGF-β). 5. **Association with dyslexia**: The dyslexia-associated protein, KIAA0319, has been linked to dyslexia, a learning disorder characterized by difficulties with reading and writing. **Pathways and Functions** The KIAA0319 gene is involved in several cellular pathways and functions, including: 1. **Cargo recognition for clathrin-mediated endocytosis**: KIAA0319 recognizes cargo molecules for clathrin-mediated endocytosis, a process by which cells internalize proteins and lipids from the plasma membrane. 2. **Clathrin-coated endocytic vesicle membrane**: The gene is involved in the formation of clathrin-coated endocytic vesicles, which are critical for cellular endocytosis. 3. **Intracellular membrane-bounded organelle**: KIAA0319 is involved in the regulation of intracellular membrane-bounded organelles, such as lysosomes and endosomes. 4. **Multicellular organismal response to stress**: The gene is involved in the regulation of cellular responses to stress, including oxidative stress and heat shock. 5. **Neuron migration**: KIAA0319 plays a role in regulating neuron migration, a process critical for neuronal development and organization. **Clinical Significance** The dyslexia-associated protein, KIAA0319, has significant clinical implications for the diagnosis and treatment of dyslexia. Research has shown that individuals with dyslexia exhibit altered expression of KIAA0319, suggesting that this gene may play a critical role in the development of dyslexia. Further research is needed to fully understand the mechanisms by which KIAA0319 contributes to dyslexia and to develop effective therapeutic strategies for this learning disorder. In addition to its association with dyslexia, KIAA0319 may also have implications for the treatment of other neurological disorders, such as autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). Further studies are needed to investigate the role of KIAA0319 in these disorders and to explore its potential as a therapeutic target. In conclusion, the KIAA0319 gene is a complex and multifunctional gene that plays a critical role in various cellular processes, including cargo recognition for clathrin-mediated endocytosis, negative regulation of axon extension, and positive regulation of Smad protein signal transduction. Its association with dyslexia highlights the importance of this gene in learning and development, and its potential implications for the treatment of other neurological disorders make it an exciting area of research for immunologists and neuroscientists alike.

Genular Protein ID: 783628366

Symbol: K0319_HUMAN

Name: Dyslexia-associated protein KIAA0319

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9205841

Title: Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9205841

DOI: 10.1093/dnares/4.2.141

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12834540

Title: A transcription map of the 6p22.3 reading disability locus identifying candidate genes.

PubMed ID: 12834540

DOI: 10.1186/1471-2164-4-25

PubMed ID: 16600991

Title: The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.

PubMed ID: 16600991

DOI: 10.1093/hmg/ddl089

PubMed ID: 17846832

Title: Alternative splicing in the dyslexia-associated gene KIAA0319.

PubMed ID: 17846832

DOI: 10.1007/s00335-007-9051-3

PubMed ID: 18063668

Title: The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.

PubMed ID: 18063668

DOI: 10.1093/hmg/ddm358

PubMed ID: 19419997

Title: The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway.

PubMed ID: 19419997

DOI: 10.1152/ajpcell.00630.2008

PubMed ID: 19679544

Title: The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat.

PubMed ID: 19679544

DOI: 10.1093/cercor/bhp154

PubMed ID: 20943657

Title: The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage.

PubMed ID: 20943657

DOI: 10.1074/jbc.m110.145961

PubMed ID: 15717286

Title: Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.

PubMed ID: 15717286

DOI: 10.1086/429131

Sequence Information:

  • Length: 1072
  • Mass: 117763
  • Checksum: 94F33B03E7FE8C0F
  • Sequence:
  • MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH TFPVVDCTAA 
    CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL TFVLRPVQRP AQLLDYGDMM 
    LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL EEMSEYSDDY RELEKDLLQP SGKQEPRGSA 
    EYTDWGLLPG SEGAFNSSVG DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT 
    TPSSGEVLEK EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST 
    EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN EVELKAFVAP 
    APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV GLYVFKVTVS SENAFGEGFV 
    NVTVKPARRV NLPPVAVVSP QLQELTLPLT SALIDGSQST DDTEIVSYHW EEINGPFIEE 
    KTSVDSPVLR LSNLDPGNYS FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT 
    LPQNSITLNG NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK 
    VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS DDHGIVFYHW 
    EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG LSSTSTLTVA VKKENNSPPR 
    ARAGGRHVLV LPNNSITLDG SRSTDDQRIV SYLWIRDGQS PAAGDVIDGS DHSVALQLTN 
    LVEGVYTFHL RVTDSQGASD TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ 
    LAVLLNVLDS DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF 
    LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES NCEWSIFYVT 
    VLAFTLIVLT GGFTWLCICC CKRQKRTKIR KKTKYTILDN MDEQERMELR PKYGIKHRST 
    EHNSSLMVSE SEFDSDQDTI FSREKMERGN PKVSMNGSIR NGASFSYCSK DR

Genular Protein ID: 3477181958

Symbol: A0A087X0U9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

Sequence Information:

  • Length: 483
  • Mass: 54027
  • Checksum: 23537E4719F97BD7
  • Sequence:
  • MQEGDYTFQL KVTDSSRQQS TAVVTVIVQP ENNRPPVAVA GPDKELIFPV ESATLDGSSS 
    SDDHGIVFYH WEHVRGPSAV EMENIDKAIA TVTGLQVGTY HFRLTVKDQQ GLSSTSTLTV 
    AVKKENNSPP RARAGGRHVL VLPNNSITLD GSRSTDDQRI VSYLWIRDGQ SPAAGDVIDG 
    SDHSVALQLT NLVEGVYTFH LRVTDSQGAS DTDTATVEVQ PDPRKSGLVE LTLQVGVGQL 
    TEQRKDTLVR QLAVLLNVLD SDIKVQKIRA HSDLSTVIVF YVQSRPPFKV LKAAEVARNL 
    HMRLSKEKAD FLLFKVLRVD TAGCLLKCSG HGHCDPLTKR CICSHLWMEN LIQRYIWDGE 
    SNCEWSIFYV TVLAFTLIVL TGGFTWLCIC CCKRQKRTKI RKKTKYTILD NMDEQERMEL 
    RPKYGIKHRS TEHNSSLMVS ESEFDSDQDT IFSREKMERG NPKVSMNGSI RNGASFSYCS 
    KDR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.