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KIAA2012 KIAA2012 [ Homo sapiens (human) ]

Gene ID: 100652824, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (202073255..202205188)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202554172..202686217)
105.20220307 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

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)

Genotypes

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_2023_10

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

Gene LinkOut

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