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    TEX48 testis expressed 48 [ Homo sapiens (human) ]

    Gene ID: 100505478, updated on 17-Jun-2024

    Summary

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    Official Symbol
    TEX48provided by HGNC
    Official Full Name
    testis expressed 48provided by HGNC
    Primary source
    HGNC:HGNC:52393
    See related
    Ensembl:ENSG00000230601 AllianceGenome:HGNC:52393
    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
    Restricted expression toward testis (RPKM 6.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See TEX48 in Genome Data Viewer
    Location:
    9q32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114666434..114682192, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (126858843..126874605, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117428714..117444472, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987121 Neighboring gene testis expressed 53 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117452852-117454051 Neighboring gene uncharacterized LOC105376231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28878 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117480617-117481816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28880 Neighboring gene TNF superfamily member 15

    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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    testis-expressed protein 48

    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_001199233.2 → NP_001186162.1  testis-expressed protein 48 isoform 1

      See identical proteins and their annotated locations for NP_001186162.1

      Status: VALIDATED

      Source sequence(s)
      AL160275
      Consensus CDS
      CCDS83406.1
      UniProtKB/Swiss-Prot
      A0A1B0GUV7
      Related
      ENSP00000490263.1, ENST00000436752.3

    2. NM_001371884.1 → NP_001358813.1  testis-expressed protein 48 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL160275

    RNA

    1. NR_133056.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160275

    2. NR_144867.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160275
      Related
      ENST00000612244.5

    3. NR_163988.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160275

    4. NR_163989.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL160275

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      114666434..114682192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      126858843..126874605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GUV7.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GUV7

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials