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KIAA0232 KIAA0232 [ Homo sapiens (human) ]

Gene ID: 9778, updated on 4-Jun-2023

Summary

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Official Symbol
KIAA0232provided by HGNC
Official Full Name
KIAA0232provided by HGNC
Primary source
HGNC:HGNC:28992
See related
Ensembl:ENSG00000170871 MIM:619237; AllianceGenome:HGNC:28992
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable ATP binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 12.8), heart (RPKM 11.4) and 25 other tissues See more
Orthologs
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Genomic context

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See KIAA0232 in Genome Data Viewer
Location:
4p16.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6782727..6884164)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (6757716..6859144)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6784454..6885891)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6749910-6750687 Neighboring gene uncharacterized LOC105374367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6765388-6765903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6894345-6894901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6902995-6903643

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. STK40 Is a Pseudokinase that Binds the E3 Ubiquitin Ligase COP1. Durzynska I, et al. Structure, 2017 Feb 7. PMID 28089446, Free PMC Article
  2. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Shameer K, et al. Hum Genet, 2014 Jan. PMID 24026423, Free PMC Article
  3. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. Nagase T, et al. DNA Res, 1996 Oct 31. PMID 9039502
  4. New gene functions in megakaryopoiesis and platelet formation. Gieger C, et al. Nature, 2011 Nov 30. PMID 22139419, Free PMC Article
  5. DYRK1A regulates the recruitment of 53BP1 to the sites of DNA damage in part through interaction with RNF169. Menon VR, et al. Cell Cycle, 2019 Mar. PMID 30773093, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

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
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
uncharacterized protein KIAA0232

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001100590.2 → NP_001094060.1  uncharacterized protein KIAA0232

    See identical proteins and their annotated locations for NP_001094060.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC106045
    Consensus CDS
    CCDS43209.1
    UniProtKB/Swiss-Prot
    A7E2D2, Q92628
    UniProtKB/TrEMBL
    A5YKK5
    Related
    ENSP00000413739.1, ENST00000425103.5
    Conserved Domains (1) summary
    pfam15376
    Location:27 → 1298
    DUF4603; Domain of unknown function (DUF4603)

  2. NM_014743.3 → NP_055558.2  uncharacterized protein KIAA0232

    See identical proteins and their annotated locations for NP_055558.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC106045
    Consensus CDS
    CCDS43209.1
    UniProtKB/Swiss-Prot
    A7E2D2, Q92628
    UniProtKB/TrEMBL
    A5YKK5
    Related
    ENSP00000303928.5, ENST00000307659.6
    Conserved Domains (1) summary
    pfam15376
    Location:27 → 1298
    DUF4603; Domain of unknown function (DUF4603)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    6782727..6884164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416450.1 → XP_047272406.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  2. XM_047416446.1 → XP_047272402.1  uncharacterized protein KIAA0232 isoform X1

  3. XM_047416453.1 → XP_047272409.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  4. XM_047416442.1 → XP_047272398.1  uncharacterized protein KIAA0232 isoform X1

  5. XM_047416455.1 → XP_047272411.1  uncharacterized protein KIAA0232 isoform X3

  6. XM_047416452.1 → XP_047272408.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  7. XM_047416444.1 → XP_047272400.1  uncharacterized protein KIAA0232 isoform X1

  8. XM_047416451.1 → XP_047272407.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  9. XM_047416441.1 → XP_047272397.1  uncharacterized protein KIAA0232 isoform X1

  10. XM_047416449.1 → XP_047272405.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  11. XM_047416456.1 → XP_047272412.1  uncharacterized protein KIAA0232 isoform X6

  12. XM_047416443.1 → XP_047272399.1  uncharacterized protein KIAA0232 isoform X1

  13. XM_024454289.2 → XP_024310057.1  uncharacterized protein KIAA0232 isoform X1

    Conserved Domains (1) summary
    pfam15376
    Location:27 → 1322
    DUF4603; Domain of unknown function (DUF4603)

  14. XM_047416454.1 → XP_047272410.1  uncharacterized protein KIAA0232 isoform X3

  15. XM_024454291.2 → XP_024310059.1  uncharacterized protein KIAA0232 isoform X6

    Conserved Domains (1) summary
    pfam15376
    Location:27 → 1298
    DUF4603; Domain of unknown function (DUF4603)

  16. XM_047416447.1 → XP_047272403.1  uncharacterized protein KIAA0232 isoform X1

  17. XM_047416448.1 → XP_047272404.1  uncharacterized protein KIAA0232 isoform X1

  18. XM_047416445.1 → XP_047272401.1  uncharacterized protein KIAA0232 isoform X1

  19. XM_011513598.4 → XP_011511900.1  uncharacterized protein KIAA0232 isoform X4

    Conserved Domains (1) summary
    pfam15376
    Location:15 → 1215
    DUF4603; Domain of unknown function (DUF4603)

  20. XM_024454290.2 → XP_024310058.1  uncharacterized protein KIAA0232 isoform X4

    Conserved Domains (1) summary
    pfam15376
    Location:15 → 1215
    DUF4603; Domain of unknown function (DUF4603)

  21. XM_005248041.6 → XP_005248098.1  uncharacterized protein KIAA0232 isoform X5

    See identical proteins and their annotated locations for XP_005248098.1

    Conserved Domains (1) summary
    pfam15376
    Location:12 → 1213
    DUF4603; Domain of unknown function (DUF4603)

  22. XM_047416457.1 → XP_047272413.1  uncharacterized protein KIAA0232 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    6757716..6859144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351316.1 → XP_054207291.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  2. XM_054351313.1 → XP_054207288.1  uncharacterized protein KIAA0232 isoform X1

  3. XM_054351319.1 → XP_054207294.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  4. XM_054351309.1 → XP_054207284.1  uncharacterized protein KIAA0232 isoform X1

  5. XM_054351321.1 → XP_054207296.1  uncharacterized protein KIAA0232 isoform X3

  6. XM_054351318.1 → XP_054207293.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  7. XM_054351311.1 → XP_054207286.1  uncharacterized protein KIAA0232 isoform X1

  8. XM_054351317.1 → XP_054207292.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  9. XM_054351308.1 → XP_054207283.1  uncharacterized protein KIAA0232 isoform X1

  10. XM_054351315.1 → XP_054207290.1  uncharacterized protein KIAA0232 isoform X2

    UniProtKB/Swiss-Prot
    A7E2D2

  11. XM_054351326.1 → XP_054207301.1  uncharacterized protein KIAA0232 isoform X6

  12. XM_054351310.1 → XP_054207285.1  uncharacterized protein KIAA0232 isoform X1

  13. XM_054351307.1 → XP_054207282.1  uncharacterized protein KIAA0232 isoform X1

  14. XM_054351320.1 → XP_054207295.1  uncharacterized protein KIAA0232 isoform X3

  15. XM_054351325.1 → XP_054207300.1  uncharacterized protein KIAA0232 isoform X6

  16. XM_054351312.1 → XP_054207287.1  uncharacterized protein KIAA0232 isoform X1

  17. XM_054351314.1 → XP_054207289.1  uncharacterized protein KIAA0232 isoform X1

  18. XM_054351322.1 → XP_054207297.1  uncharacterized protein KIAA0232 isoform X4

  19. XM_054351323.1 → XP_054207298.1  uncharacterized protein KIAA0232 isoform X4

  20. XM_054351324.1 → XP_054207299.1  uncharacterized protein KIAA0232 isoform X5

  21. XM_054351327.1 → XP_054207302.1  uncharacterized protein KIAA0232 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92628.5 GenPept UniProtKB/Swiss-Prot:Q92628

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