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KIAA0232 KIAA0232 [ Homo sapiens (human) ]

Gene ID: 9778, updated on 1-Aug-2020

Summary

Official Symbol
KIAA0232provided by HGNC
Official Full Name
KIAA0232provided by HGNC
Primary source
HGNC:HGNC:28992
See related
Ensembl:ENSG00000170871
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
Ubiquitous expression in brain (RPKM 12.8), heart (RPKM 11.4) and 25 other tissues See more
Orthologs

Genomic context

See KIAA0232 in Genome Data Viewer
Location:
4p16.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (6782727..6884172)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6784459..6885899)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12223 Neighboring gene uncharacterized LOC105374367 Neighboring gene TBC1 domain family member 14 Neighboring gene RN7SK pseudogene 292 Neighboring gene uncharacterized LOC100129931 Neighboring gene coiled-coil domain containing 96

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
uncharacterized protein KIAA0232

NCBI Reference Sequences (RefSeq)

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_001100590.1NP_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)
    BC150286, BU618566, DA137144, DA652967, EF553521
    Consensus CDS
    CCDS43209.1
    UniProtKB/Swiss-Prot
    Q92628
    UniProtKB/TrEMBL
    A5YKK5
    Related
    ENSP00000413739.1, ENST00000425103.5
    Conserved Domains (1) summary
    pfam15376
    Location:271298
    DUF4603; Domain of unknown function (DUF4603)
  2. NM_014743.3NP_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
    Q92628
    UniProtKB/TrEMBL
    A5YKK5
    Related
    ENSP00000303928.5, ENST00000307659.6
    Conserved Domains (1) summary
    pfam15376
    Location:271298
    DUF4603; Domain of unknown function (DUF4603)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    6782727..6884172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454291.1XP_024310059.1  uncharacterized protein KIAA0232 isoform X5

    Conserved Domains (1) summary
    pfam15376
    Location:271298
    DUF4603; Domain of unknown function (DUF4603)
  2. XM_024454289.1XP_024310057.1  uncharacterized protein KIAA0232 isoform X1

    Conserved Domains (1) summary
    pfam15376
    Location:271322
    DUF4603; Domain of unknown function (DUF4603)
  3. XM_017008860.2XP_016864349.1  uncharacterized protein KIAA0232 isoform X1

    Conserved Domains (1) summary
    pfam15376
    Location:271322
    DUF4603; Domain of unknown function (DUF4603)
  4. XM_017008861.1XP_016864350.1  uncharacterized protein KIAA0232 isoform X2

    Conserved Domains (1) summary
    pfam15376
    Location:271322
    DUF4603; Domain of unknown function (DUF4603)
  5. XM_011513598.3XP_011511900.1  uncharacterized protein KIAA0232 isoform X3

    Conserved Domains (1) summary
    pfam15376
    Location:151215
    DUF4603; Domain of unknown function (DUF4603)
  6. XM_024454290.1XP_024310058.1  uncharacterized protein KIAA0232 isoform X3

    Conserved Domains (1) summary
    pfam15376
    Location:151215
    DUF4603; Domain of unknown function (DUF4603)
  7. XM_005248041.5XP_005248098.1  uncharacterized protein KIAA0232 isoform X4

    See identical proteins and their annotated locations for XP_005248098.1

    Conserved Domains (1) summary
    pfam15376
    Location:151213
    DUF4603; Domain of unknown function (DUF4603)
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