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    KIAA0319 KIAA0319 [ Homo sapiens (human) ]

    Gene ID: 9856, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic variation in the KIAA0319 5' region as a possible contributor to dyslexia. Elbert A, et al. Behav Genet, 2011 Jan. PMID 21207242, Free PMC Article
    2. Quantitative trait locus for reading disability on chromosome 6. Cardon LR, et al. Science, 1994 Oct 14. PMID 7939663
    3. Quantitative-trait locus for specific language and reading deficits on chromosome 6p. Gayán J, et al. Am J Hum Genet, 1999 Jan. PMID 9915954, Free PMC Article
    4. A transcription map of the 6p22.3 reading disability locus identifying candidate genes. Londin ER, et al. BMC Genomics, 2003 Jun 30. PMID 12834540, Free PMC Article
    5. A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Francks C, et al. Am J Hum Genet, 2004 Dec. PMID 15514892, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming.
      Title: Cumulative genetic score of KIAA0319 affects reading ability in Chinese children: moderation by parental education and mediation by rapid automatized naming.
    2. KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction.
      Title: KIAA0319 influences cilia length, cell migration and mechanical cell-substrate interaction.
    3. Results indicate that the polymorphisms rs4504469, rs2038137, rs2179515, rs3212236, rs6935076, rs9461045, rs2143340 and rs761100 have no association between the polymorphisms and dyslexia risk [Meta-analysis].
      Title: Association between KIAA0319 SNPs and risk of dyslexia: a meta-analysis.
    4. Residues in strands B and E, and the BC loop of AAVR PKD2 interact directly with the AAV2 capsid.
      Title: Adeno-associated virus 2 bound to its cellular receptor AAVR.
    5. By suggesting the presence of common biological processes underlying reading (dis)ability, these findings represent initial support for a generalist effect of the non-additive interdependence between READ1 and the KIAA0319 risk haplotype and can help in clinically assessing the individual risk for Developmental dyslexia.
      Title: The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects.
    6. These findings suggest that DNA methylation patterns in the KIAA0319 promoter region might be associated with cognitive control processes that are necessary to perform well in the forced-attention conditions.
      Title: KIAA0319 promoter DNA methylation predicts dichotic listening performance in forced-attention conditions.
    7. The study corroborates the importance of rs2038137-KIAA0319, and rs6935076-KIAA0319 in the aetiology of dyslexia. The relevance of rs2038137-KIAA0319, and rs6935076-KIAA0319 was further supported by the meta-analysis.
      Title: Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort.
    8. a meta-analysis of association studies involving KIAA0319 polymorphisms and Developmental Dyslexia risk, is reported.
      Title: Opposite Associations between Individual KIAA0319 Polymorphisms and Developmental Dyslexia Risk across Populations: A Stratified Meta-Analysis by the Study Population.
    9. Missense variant in DYX2 gene is associated with reading disability.
      Title: Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.
    10. Two SNPs in the KIAA0319 gene were nominally associated with rapid naming, and these associations were stable across different ages in longitudinal data set from the Dutch Dyslexia Program.
      Title: Association analysis of dyslexia candidate genes in a Dutch longitudinal sample.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC176717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in multicellular organismal response to stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of axon extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of axon extension involved in regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of dendrite development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to auditory stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

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

    NCBI Reference Sequences (RefSeq)

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    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_001168374.2 → NP_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:11 → 93
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:426 → 512
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05466
      Location:198 → 332
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    2. NM_001168375.2 → NP_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:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:435 → 521
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:546 → 826
      REJ; REJ domain
      pfam08604
      Location:167 → 329
      Nup153; Nucleoporin Nup153-like

    3. NM_001168376.2 → NP_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:390 → 476
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:501 → 781
      REJ; REJ domain
      cl06508
      Location:4 → 57
      MANEC; MANEC domain
      cl25756
      Location:119 → 296
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    4. NM_001168377.2 → NP_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:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:435 → 521
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05466
      Location:207 → 341
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    5. NM_001252328.2 → NP_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:37 → 123
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

    6. NM_001350403.2 → NP_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:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:435 → 521
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:546 → 826
      REJ; REJ domain
      pfam08604
      Location:167 → 329
      Nup153; Nucleoporin Nup153-like

    7. NM_001350404.2 → NP_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:14 → 96
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:429 → 515
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:540 → 820
      REJ; REJ domain
      cl25756
      Location:158 → 335
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    8. NM_001350405.2 → NP_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:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:402 → 488
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:513 → 793
      REJ; REJ domain
      pfam08604
      Location:167 → 329
      Nup153; Nucleoporin Nup153-like

    9. NM_001350406.2 → NP_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:390 → 476
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:501 → 781
      REJ; REJ domain
      cl06508
      Location:4 → 57
      MANEC; MANEC domain
      cl25756
      Location:119 → 296
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    10. NM_001350407.2 → NP_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:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:435 → 521
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:546 → 826
      REJ; REJ domain
      cl25756
      Location:164 → 341
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    11. NM_001350408.2 → NP_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:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:435 → 521
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:546 → 826
      REJ; REJ domain
      cl25756
      Location:164 → 341
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    12. NM_001350409.2 → NP_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:283 → 369
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:394 → 674
      REJ; REJ domain
      cl25756
      Location:12 → 189
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    13. NM_001350410.2 → NP_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:283 → 369
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:394 → 674
      REJ; REJ domain
      cl25756
      Location:12 → 189
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    14. NM_014809.4 → NP_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:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:435 → 521
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:546 → 826
      REJ; REJ domain
      pfam08604
      Location:167 → 329
      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_017011546.3 → XP_016867035.1  dyslexia-associated protein KIAA0319 isoform X4

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

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

    4. XM_017011550.2 → XP_016867039.1  dyslexia-associated protein KIAA0319 isoform X5

      Conserved Domains (4) summary
      smart00765
      Location:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:435 → 521
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:546 → 826
      REJ; REJ domain
      cl25756
      Location:164 → 341
      BASP1; Brain acid soluble protein 1 (BASP1 protein)

    5. XM_047419603.1 → XP_047275559.1  dyslexia-associated protein KIAA0319 isoform X3

    6. XM_017011544.2 → XP_016867033.1  dyslexia-associated protein KIAA0319 isoform X3

      Conserved Domains (4) summary
      smart00765
      Location:20 → 102
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:402 → 488
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam02010
      Location:513 → 793
      REJ; REJ domain
      pfam08604
      Location:167 → 329
      Nup153; Nucleoporin Nup153-like

    7. XM_017011541.2 → XP_016867030.1  dyslexia-associated protein KIAA0319 isoform X1

      UniProtKB/Swiss-Prot
      Q5VV43
      Conserved Domains (3) summary
      smart00765
      Location:11 → 93
      MANEC; The MANEC domain, formerly called MANSC
      smart00089
      Location:426 → 512
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05466
      Location:198 → 332
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VV43.1 GenPept UniProtKB/Swiss-Prot:Q5VV43

    Gene LinkOut

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