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    TTC9B tetratricopeptide repeat domain 9B [ Homo sapiens (human) ]

    Gene ID: 148014, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TTC9Bprovided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 9Bprovided by HGNC
    Primary source
    HGNC:HGNC:26395
    See related
    Ensembl:ENSG00000174521 AllianceGenome:HGNC:26395
    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
    Biased expression in brain (RPKM 12.1) and adrenal (RPKM 0.2) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40216058..40218384, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43036569..43038895, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40721965..40724291, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 96 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14640 Neighboring gene Sharpr-MPRA regulatory region 5792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10617 Neighboring gene mitogen-activated protein kinase kinase kinase 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40711899-40712419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40723159-40723749 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:40725328-40726527 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:40729726-40730925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40732430-40732983 Neighboring gene cyclin P Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40747987-40748488 Neighboring gene AKT serine/threonine kinase 2 Neighboring gene uncharacterized LOC107985289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40757528-40758152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40758153-40758776

    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. Replication of Epigenetic Postpartum Depression Biomarkers and Variation with Hormone Levels. Osborne L, et al. Neuropsychopharmacology, 2016 May. PMID 26503311, Free PMC Article
    2. Seeing the future: epigenetic biomarkers of postpartum depression. Kaminsky Z, et al. Neuropsychopharmacology, 2014 Jan. PMID 24317310, Free PMC Article
    3. Systematic identification of molecular links between core and candidate genes in breast cancer. Arroyo R, et al. J Mol Biol, 2015 Mar 27. PMID 25640309
    4. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, 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 (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA methylation at early antenatal time points associated with changes in estradiol and allopregnanolone and postpartum depression
      Title: Replication of Epigenetic Postpartum Depression Biomarkers and Variation with Hormone Levels.
    2. found two biomarker loci at HP1BP3 and TTC9B, which predicted postpartum depression
      Title: Seeing the future: epigenetic biomarkers of postpartum depression.
    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

    • FLJ30373, MGC33962

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 9B
    Names
    TPR repeat protein 9B

    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_152479.6 → NP_689692.2  tetratricopeptide repeat protein 9B

      See identical proteins and their annotated locations for NP_689692.2

      Status: VALIDATED

      Source sequence(s)
      AC118344
      Consensus CDS
      CCDS12550.1
      UniProtKB/Swiss-Prot
      A8K0I5, Q8N6N2, Q96NP9
      Related
      ENSP00000311760.6, ENST00000311308.7
      Conserved Domains (2) summary
      TIGR02917
      Location:152 → 220
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:135 → 165
      TPR; TPR repeat [structural motif]

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40216058..40218384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026368.2 → XP_016881857.1  tetratricopeptide repeat protein 9B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43036569..43038895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319963.1 → XP_054175938.1  tetratricopeptide repeat protein 9B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6N2.1 GenPept UniProtKB/Swiss-Prot:Q8N6N2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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