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    KIAA0319 KIAA0319 [ Homo sapiens (human) ]

    Gene ID: 9856, updated on 2-Nov-2024

    Summary

    Official Symbol
    KIAA0319provided by HGNC
    Official Full Name
    KIAA0319provided by HGNC
    Primary source
    HGNC:HGNC:21580
    See related
    Ensembl:ENSG00000137261 MIM:609269; AllianceGenome:HGNC:21580
    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIAA0319 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24540141..24646191, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24414072..24516155, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24544335..24646419, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene magnesium transporter MRS2 Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene MPRA-validated peak5733 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16990 Neighboring gene aldehyde dehydrogenase 5 family member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16992 Neighboring gene uncharacterized LOC124901277 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:24538795-24539994 Neighboring gene NANOG hESC enhancer GRCh37_chr6:24547459-24547981 Neighboring gene MPRA-validated peak5735 silencer Neighboring gene keratin 8 pseudogene 43 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16993 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:24666173-24666845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:24666846-24667517 Neighboring gene uncharacterized LOC124901279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24682160-24682927 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24682928-24683696 Neighboring gene tyrosyl-DNA phosphodiesterase 2 Neighboring gene acyl-CoA thioesterase 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC176717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    dyslexia-associated protein KIAA0319
    Names
    dyslexia susceptibility 2
    neuronal migration

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016206.2 RefSeqGene

      Range
      5000..107084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168374.2NP_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, AL031775, 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_001168375.2NP_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
      A7MD37, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q5VV43, Q9UJC8, Q9Y4G7
      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_001168376.2NP_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_001168377.2NP_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, AL031775, 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_001252328.2NP_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_001350403.2NP_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
      UniProtKB/Swiss-Prot
      A7MD37, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q5VV43, Q9UJC8, Q9Y4G7
      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_001350404.2NP_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_001350405.2NP_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_001350406.2NP_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_001350407.2NP_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_001350408.2NP_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_001350409.2NP_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_001350410.2NP_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_014809.4NP_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
      A7MD37, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q5VV43, Q9UJC8, Q9Y4G7
      Related
      ENSP00000367459.3, ENST00000378214.8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      24540141..24646191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011546.3XP_016867035.1  dyslexia-associated protein KIAA0319 isoform X4

    2. XM_047419602.1XP_047275558.1  dyslexia-associated protein KIAA0319 isoform X2

    3. XM_047419604.1XP_047275560.1  dyslexia-associated protein KIAA0319 isoform X6

    4. XM_017011550.2XP_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)
    5. XM_047419603.1XP_047275559.1  dyslexia-associated protein KIAA0319 isoform X3

    6. XM_017011544.2XP_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
    7. XM_017011541.2XP_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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      24414072..24516155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)