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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
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Genomic context

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See TTC9B in Genome Data Viewer
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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