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    KIAA2012 KIAA2012 [ Homo sapiens (human) ]

    Gene ID: 100652824, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KIAA2012provided by HGNC
    Official Full Name
    KIAA2012provided by HGNC
    Primary source
    HGNC:HGNC:51250
    See related
    Ensembl:ENSG00000182329 AllianceGenome:HGNC:51250
    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
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA2012 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (202073255..202205188)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202554172..202686217)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202937978..203069911)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202899462-202900302 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:202903328-202904527 Neighboring gene uncharacterized LOC124906114 Neighboring gene frizzled class receptor 7 Neighboring gene small nucleolar RNA U13 Neighboring gene KIAA2012 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16997 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:203013826-203014679 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:203035623-203036441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16998 Neighboring gene proteasome subunit alpha 2 pseudogene 3 Neighboring gene DAZ associated protein 2 pseudogene 1 Neighboring gene small ubiquitin like modifier 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12240 Neighboring gene short transmembrane mitochondrial protein 1 pseudogene Neighboring gene ribosomal protein L39 pseudogene 14

    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. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. Anney RJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Dec 5. PMID 18951430
    2. Systematic proteomics of endogenous human cohesin reveals an interaction with diverse splicing factors and RNA-binding proteins required for mitotic progression. Kim JS, et al. J Biol Chem, 2019 May 31. PMID 31010829, Free PMC Article
    3. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    4. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) 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
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    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

    • FLJ39061, FLJ52086, FLJ52575, KIAA2012, MGC141748

    General protein information

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    Preferred Names
    uncharacterized protein KIAA2012

    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.

    mRNA and Protein(s)

    1. NM_001277372.4 → NP_001264301.2  uncharacterized protein KIAA2012 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC069148, AC079354
      Consensus CDS
      CCDS74631.2
      UniProtKB/Swiss-Prot
      Q0VF49, Q8IVF9
      UniProtKB/TrEMBL
      H7C5G6
      Related
      ENSP00000419834.2, ENST00000498697.3
      Conserved Domains (3) summary
      pfam15709
      Location:624 → 1137
      DUF4670; Domain of unknown function (DUF4670)
      pfam15898
      Location:1030 → 1120
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
      cl05005
      Location:1081 → 1140
      TAF4; TATA Binding Protein (TBP) Associated Factor 4 (TAF4) is one of several TAFs that bind TBP and is involved in forming Transcription Factor IID (TFIID) complex

    2. NM_001367720.2 → NP_001354649.1  uncharacterized protein KIAA2012 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC069148, AC079354
      UniProtKB/Swiss-Prot
      Q0VF49, Q8IVF9
      Conserved Domains (1) summary
      pfam15709
      Location:623 → 1136
      DUF4670; Domain of unknown function (DUF4670)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      202073255..202205188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003112.3 → XP_016858601.1  uncharacterized protein KIAA2012 isoform X1

      UniProtKB/TrEMBL
      B7Z4I8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      202554172..202686217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340084.1 → XP_054196059.1  uncharacterized protein KIAA2012 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080445.1: Suppressed sequence

      Description
      NM_001080445.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VF49.2 GenPept UniProtKB/Swiss-Prot:Q0VF49

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