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    TEX30 testis expressed 30 [ Homo sapiens (human) ]

    Gene ID: 93081, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TEX30provided by HGNC
    Official Full Name
    testis expressed 30provided by HGNC
    Primary source
    HGNC:HGNC:25188
    See related
    Ensembl:ENSG00000151287 AllianceGenome:HGNC:25188
    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
    C13orf27
    Expression
    Biased expression in testis (RPKM 28.8), liver (RPKM 4.4) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TEX30 in Genome Data Viewer
    Location:
    13q33.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (102765888..102773786, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (101983926..101991831, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103418238..103426136, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene coiled-coil domain containing 168 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103407292-103407513 Neighboring gene uncharacterized LOC105370337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103425891-103426568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103426569-103427246 Neighboring gene protein O-glucosyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5486 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene basic, immunoglobulin-like variable motif containing Neighboring gene RNY5 pseudogene 8

    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. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article
    2. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    3. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    4. PRISMA and BioID disclose a motifs-based interactome of the intrinsically disordered transcription factor C/EBPα. Ramberger E, et al. iScience, 2021 Jun 25. PMID 34189442, Free PMC Article
    5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    testis-expressed protein 30
    Names
    testis-expressed sequence 30 protein

    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_001286775.2 → NP_001273704.1  testis-expressed protein 30 isoform 2

      See identical proteins and their annotated locations for NP_001273704.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC015148, BG527702, HY045638, HY229390
      Consensus CDS
      CCDS66578.1
      UniProtKB/Swiss-Prot
      Q5JUR7
      Related
      ENSP00000365197.3, ENST00000376029.3

    2. NM_001286776.2 → NP_001273705.1  testis-expressed protein 30 isoform 3

      See identical proteins and their annotated locations for NP_001273705.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      BC015148, BI559423, HY229390
      Consensus CDS
      CCDS66577.1
      UniProtKB/TrEMBL
      A0A0C4DFW4, B2RC94
      Related
      ENSP00000365189.4, ENST00000376021.8
      Conserved Domains (1) summary
      cl21494
      Location:57 → 178
      Abhydrolase; alpha/beta hydrolases

    3. NM_138779.5 → NP_620134.3  testis-expressed protein 30 isoform 1

      See identical proteins and their annotated locations for NP_620134.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC015148, HY229390
      Consensus CDS
      CCDS9503.2
      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8
      UniProtKB/TrEMBL
      B2RC94
      Related
      ENSP00000365200.4, ENST00000376032.9
      Conserved Domains (1) summary
      cl21494
      Location:32 → 219
      Abhydrolase; alpha/beta hydrolases

    RNA

    1. NR_104590.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the predicted ORF does not meet RefSeq quality criteria.
      Source sequence(s)
      BI861260, HY045638, HY229390

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      102765888..102773786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449439.2 → XP_024305207.1  testis-expressed protein 30 isoform X1

      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8
      UniProtKB/TrEMBL
      B2RC94
      Conserved Domains (1) summary
      cl21494
      Location:32 → 219
      Abhydrolase; alpha/beta hydrolases

    2. XM_005254097.4 → XP_005254154.1  testis-expressed protein 30 isoform X1

      See identical proteins and their annotated locations for XP_005254154.1

      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8
      UniProtKB/TrEMBL
      B2RC94
      Conserved Domains (1) summary
      cl21494
      Location:32 → 219
      Abhydrolase; alpha/beta hydrolases

    3. XM_047430773.1 → XP_047286729.1  testis-expressed protein 30 isoform X1

      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8

    4. XM_017020852.3 → XP_016876341.1  testis-expressed protein 30 isoform X1

      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8
      UniProtKB/TrEMBL
      B2RC94
      Conserved Domains (1) summary
      cl21494
      Location:32 → 219
      Abhydrolase; alpha/beta hydrolases

    5. XM_047430774.1 → XP_047286730.1  testis-expressed protein 30 isoform X3

    6. XM_011521136.3 → XP_011519438.1  testis-expressed protein 30 isoform X2

      Conserved Domains (1) summary
      cl21494
      Location:54 → 175
      Abhydrolase; alpha/beta hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      101983926..101991831 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375187.1 → XP_054231162.1  testis-expressed protein 30 isoform X1

      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8

    2. XM_054375185.1 → XP_054231160.1  testis-expressed protein 30 isoform X1

      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8

    3. XM_054375186.1 → XP_054231161.1  testis-expressed protein 30 isoform X1

      UniProtKB/Swiss-Prot
      Q5JUR7, Q5JUR8, Q96KZ8

    4. XM_054375189.1 → XP_054231164.1  testis-expressed protein 30 isoform X3

    5. XM_054375188.1 → XP_054231163.1  testis-expressed protein 30 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JUR7.1 GenPept UniProtKB/Swiss-Prot:Q5JUR7

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