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    HEATR9 HEAT repeat containing 9 [ Homo sapiens (human) ]

    Gene ID: 256957, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HEATR9provided by HGNC
    Official Full Name
    HEAT repeat containing 9provided by HGNC
    Primary source
    HGNC:HGNC:26548
    See related
    Ensembl:ENSG00000270379 AllianceGenome:HGNC:26548
    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
    Also known as
    C17orf66
    Summary
    Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 5.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See HEATR9 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35854955..35868891, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36802865..36816799, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34181959..34195895, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34092667-34093167 Neighboring gene chromosome 17 open reading frame 50 Neighboring gene matrix metallopeptidase 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34121971-34122509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:34136503-34137204 Neighboring gene TATA-box binding protein associated factor 15 Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene uncharacterized LOC105371745 Neighboring gene C-C motif chemokine ligand 5 Neighboring gene MPRA-validated peak2821 silencer Neighboring gene leucine rich repeat containing 37 member A8, pseudogene

    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 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. Heatr9 is an infection responsive gene that affects cytokine production in alveolar epithelial cells. Stairiker CJ, et al. PLoS One, 2020. PMID 32678841, Free PMC Article
    2. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    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

    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

    • FLJ32830

    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 hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein HEATR9
    Names
    HEAT repeat-containing protein 9

    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_001321395.2 → NP_001308324.1  protein HEATR9 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK057392, AK301943, DB090576
      Consensus CDS
      CCDS82108.1
      UniProtKB/Swiss-Prot
      A2RTY3
      Related
      ENSP00000473760.1, ENST00000603870.5
      Conserved Domains (1) summary
      pfam13646
      Location:334 → 421
      HEAT_2; HEAT repeats

    2. NM_152781.4 → NP_689994.2  protein HEATR9 isoform 1

      See identical proteins and their annotated locations for NP_689994.2

      Status: VALIDATED

      Source sequence(s)
      AK057392, BC033734, BX114438, DB090576
      Consensus CDS
      CCDS11299.1
      UniProtKB/Swiss-Prot
      A2RTY3, B4DX21, B4DXA4, B4DXF0, Q8N4R4, Q96M46
      Related
      ENSP00000473941.1, ENST00000604834.6
      Conserved Domains (1) summary
      pfam13646
      Location:374 → 461
      HEAT_2; HEAT repeats

    RNA

    1. NR_135630.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK057392, AK301943, BC144011, DB090576
      Related
      ENST00000603323.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      35854955..35868891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005278233.3 → XP_005278290.1  protein HEATR9 isoform X1

      See identical proteins and their annotated locations for XP_005278290.1

      Conserved Domains (1) summary
      pfam13646
      Location:340 → 427
      HEAT_2; HEAT repeats

    2. XM_006721802.4 → XP_006721865.1  protein HEATR9 isoform X2

      See identical proteins and their annotated locations for XP_006721865.1

    RNA

    1. XR_934434.2 RNA Sequence

      Related
      ENST00000605080.5

    2. XR_934432.4 RNA Sequence

      Related
      ENST00000603852.5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      89487..103423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329277.1 → XP_054185252.1  protein HEATR9 isoform X3

    2. XM_054329278.1 → XP_054185253.1  protein HEATR9 isoform X1

    3. XM_054329279.1 → XP_054185254.1  protein HEATR9 isoform X2

    RNA

    1. XR_008485630.1 RNA Sequence

    2. XR_008485629.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      36802865..36816799 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315653.1 → XP_054171628.1  protein HEATR9 isoform X4

    2. XM_054315654.1 → XP_054171629.1  protein HEATR9 isoform X1

    3. XM_054315655.1 → XP_054171630.1  protein HEATR9 isoform X2

    RNA

    1. XR_008484804.1 RNA Sequence

    2. XR_008484803.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RTY3.2 GenPept UniProtKB/Swiss-Prot:A2RTY3

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