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KIAA0319 KIAA0319 [ Homo sapiens (human) ]

Gene ID: 9856, updated on 5-Aug-2018
Official Symbol
KIAA0319provided by HGNC
Official Full Name
KIAA0319provided by HGNC
Primary source
HGNC:HGNC:21580
See related
Ensembl:ENSG00000137261 MIM:609269; Vega:OTTHUMG00000014358
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAVR; DYX2; NMIG; DYLX2
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 cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Biased expression in brain (RPKM 5.0), testis (RPKM 0.6) and 3 other tissues See more
Orthologs
See KIAA0319 in Genome Data Viewer
Location:
6p22.3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (24540128..24646155, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24544332..24646383, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MRS2, magnesium transporter Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene aldehyde dehydrogenase 5 family member A1 Neighboring gene keratin 8 pseudogene 43 Neighboring gene tyrosyl-DNA phosphodiesterase 2 Neighboring gene acyl-CoA thioesterase 13 Neighboring gene chromosome 6 open reading frame 62

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dyslexia 2
MedGen: C1838436 OMIM: 600202 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
NHGRI GWA Catalog
  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC176717

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of dendrite development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of dendrite development IGI
Inferred from Genetic Interaction
more info
PubMed 
neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron migration IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
dyslexia-associated protein KIAA0319
Names
AAV receptor
dyslexia susceptibility 2
neuronal migration

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016206.1 RefSeqGene

    Range
    5001..107052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168374.1NP_001161846.1  dyslexia-associated protein KIAA0319 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon and uses an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AK296426, AL031230, AL512385, BC152460
    Consensus CDS
    CCDS54970.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Related
    ENSP00000442403.1, ENST00000535378.5
    Conserved Domains (3) summary
    smart00765
    Location:1193
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:426512
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam05466
    Location:198332
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  2. NM_001168375.1NP_001161847.1  dyslexia-associated protein KIAA0319 isoform a precursor

    See identical proteins and their annotated locations for NP_001161847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 7 all encode the same isoform (a).
    Source sequence(s)
    AK296310, AL031230, AL031775, AL512385, DA316925, DA808234
    Consensus CDS
    CCDS34348.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546826
    REJ; REJ domain
    pfam08604
    Location:167329
    Nup153; Nucleoporin Nup153-like
  3. NM_001168376.1NP_001161848.1  dyslexia-associated protein KIAA0319 isoform c

    See identical proteins and their annotated locations for NP_001161848.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks an exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 4 and 10 both encode the same isoform (c).
    Source sequence(s)
    AK295008, AL031230, AL031775, AL512385, DA316925, DA808234
    Consensus CDS
    CCDS54969.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Related
    ENSP00000401086.2, ENST00000430948.6
    Conserved Domains (4) summary
    smart00089
    Location:390476
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:501781
    REJ; REJ domain
    cl06508
    Location:457
    MANEC; MANEC domain
    cl25756
    Location:119296
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  4. NM_001168377.1NP_001161849.1  dyslexia-associated protein KIAA0319 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two consecutive exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AK295008, AL031230, AL512385, BC144628, BC152460
    Consensus CDS
    CCDS54971.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Related
    ENSP00000439700.1, ENST00000537886.5
    Conserved Domains (3) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam05466
    Location:207341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  5. NM_001252328.1NP_001239257.1  dyslexia-associated protein KIAA0319 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK310289, AL031230
    Consensus CDS
    CCDS75409.1
    UniProtKB/TrEMBL
    A0A087X0U9
    Related
    ENSP00000483665.1, ENST00000616673.4
    Conserved Domains (1) summary
    smart00089
    Location:37123
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
  6. NM_001350403.1NP_001337332.1  dyslexia-associated protein KIAA0319 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1 and 2, encodes isoform a.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Consensus CDS
    CCDS34348.1
    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546826
    REJ; REJ domain
    pfam08604
    Location:167329
    Nup153; Nucleoporin Nup153-like
  7. NM_001350404.1NP_001337333.1  dyslexia-associated protein KIAA0319 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) encodes isoform f.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:1496
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:429515
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:540820
    REJ; REJ domain
    cl25756
    Location:158335
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  8. NM_001350405.1NP_001337334.1  dyslexia-associated protein KIAA0319 isoform g precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) encodes isoform g.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:402488
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:513793
    REJ; REJ domain
    pfam08604
    Location:167329
    Nup153; Nucleoporin Nup153-like
  9. NM_001350406.1NP_001337335.1  dyslexia-associated protein KIAA0319 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Consensus CDS
    CCDS54969.1
    Conserved Domains (4) summary
    smart00089
    Location:390476
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:501781
    REJ; REJ domain
    cl06508
    Location:457
    MANEC; MANEC domain
    cl25756
    Location:119296
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  10. NM_001350407.1NP_001337336.1  dyslexia-associated protein KIAA0319 isoform h precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 12, encodes isoform h.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546826
    REJ; REJ domain
    cl25756
    Location:164341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  11. NM_001350408.1NP_001337337.1  dyslexia-associated protein KIAA0319 isoform h precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variant 11, encodes isoform h.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546826
    REJ; REJ domain
    cl25756
    Location:164341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  12. NM_001350409.1NP_001337338.1  dyslexia-associated protein KIAA0319 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 14, encodes isoform i.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (3) summary
    smart00089
    Location:283369
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:394674
    REJ; REJ domain
    cl25756
    Location:12189
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  13. NM_001350410.1NP_001337339.1  dyslexia-associated protein KIAA0319 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variant 13, encodes isoform i.
    Source sequence(s)
    AL031230, AL031775, AL512385
    Conserved Domains (3) summary
    smart00089
    Location:283369
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:394674
    REJ; REJ domain
    cl25756
    Location:12189
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  14. NM_014809.3NP_055624.2  dyslexia-associated protein KIAA0319 isoform a precursor

    See identical proteins and their annotated locations for NP_055624.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, and 7 all encode the same isoform (a).
    Source sequence(s)
    AB002317, AL031230, AL031775, AL512385
    Consensus CDS
    CCDS34348.1
    UniProtKB/Swiss-Prot
    Q5VV43
    Related
    ENSP00000367459.3, OTTHUMP00000016089, ENST00000378214.7, OTTHUMT00000040009
    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546826
    REJ; REJ domain
    pfam08604
    Location:167329
    Nup153; Nucleoporin Nup153-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    24540128..24646155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011546.2XP_016867035.1  dyslexia-associated protein KIAA0319 isoform X4

  2. XM_017011542.2XP_016867031.1  dyslexia-associated protein KIAA0319 isoform X2

  3. XM_017011550.1XP_016867039.1  dyslexia-associated protein KIAA0319 isoform X5

    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546826
    REJ; REJ domain
    cl25756
    Location:164341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  4. XM_017011541.1XP_016867030.1  dyslexia-associated protein KIAA0319 isoform X1

    UniProtKB/Swiss-Prot
    Q5VV43
    Conserved Domains (3) summary
    smart00765
    Location:1193
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:426512
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam05466
    Location:198332
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  5. XM_017011544.1XP_016867033.1  dyslexia-associated protein KIAA0319 isoform X3

    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:402488
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:513793
    REJ; REJ domain
    pfam08604
    Location:167329
    Nup153; Nucleoporin Nup153-like
  6. XM_017011551.1XP_016867040.1  dyslexia-associated protein KIAA0319 isoform X6

  7. XM_017011547.1XP_016867036.1  dyslexia-associated protein KIAA0319 isoform X5

    Conserved Domains (4) summary
    smart00765
    Location:20102
    MANEC; The MANEC domain, formerly called MANSC
    smart00089
    Location:435521
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:546826
    REJ; REJ domain
    cl25756
    Location:164341
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
  8. XM_011515026.3XP_011513328.1  dyslexia-associated protein KIAA0319 isoform X7

    See identical proteins and their annotated locations for XP_011513328.1

    UniProtKB/Swiss-Prot
    Q5VV43
    Conserved Domains (4) summary
    smart00089
    Location:390476
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam02010
    Location:501781
    REJ; REJ domain
    cl06508
    Location:457
    MANEC; MANEC domain
    cl25756
    Location:119296
    BASP1; Brain acid soluble protein 1 (BASP1 protein)

RNA

  1. XR_001743780.1 RNA Sequence

  2. XR_001743779.1 RNA Sequence

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