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    TEX14 testis expressed 14, intercellular bridge forming factor [ Homo sapiens (human) ]

    Gene ID: 56155, updated on 28-Oct-2024

    Summary

    Official Symbol
    TEX14provided by HGNC
    Official Full Name
    testis expressed 14, intercellular bridge forming factorprovided by HGNC
    Primary source
    HGNC:HGNC:11737
    See related
    Ensembl:ENSG00000121101 MIM:605792; AllianceGenome:HGNC:11737
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT113; SPGF23; SgK307
    Summary
    The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
    Expression
    Restricted expression toward testis (RPKM 18.9) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TEX14 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58556678..58692045, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59424548..59559911, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56634039..56769406, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56595757-56596502 Neighboring gene SEPTIN4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56606301-56606801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56608575-56609075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8772 Neighboring gene myotubularin related protein 4 Neighboring gene septin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12485 Neighboring gene MPRA-validated peak2918 silencer Neighboring gene uncharacterized LOC107985048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12487 Neighboring gene uncharacterized LOC124904154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:56709807-56710349 Neighboring gene uncharacterized LOC105371842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56712589-56713090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56713091-56713590 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:56735252-56735804 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:56735936-56736706 Neighboring gene U1 spliceosomal RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56738569-56739070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12489 Neighboring gene RNA, U1 small nuclear 108, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12491 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:56777426-56777594 Neighboring gene IGBP1 family member C Neighboring gene MPRA-validated peak2919 silencer Neighboring gene RNA, U1 small nuclear 52, pseudogene Neighboring gene RNA, variant U1 small nuclear 34 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12492 Neighboring gene uncharacterized LOC105371843 Neighboring gene RAD51 paralog C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8775 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:56833223-56833371 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1E Neighboring gene RNA, U6 small nuclear 518, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spermatogenic failure 23
    MedGen: C4540185 OMIM: 617707 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    EBI GWAS Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in attachment of spindle microtubules to kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in attachment of spindle microtubules to kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intercellular bridge organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intercellular bridge organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in male meiotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in male meiotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic sister chromatid separation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic sister chromatid separation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic spindle assembly checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic spindle assembly checkpoint signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cytokinesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in intercellular bridge IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intercellular bridge ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in midbody ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    inactive serine/threonine-protein kinase TEX14
    Names
    cancer/testis antigen 113
    protein kinase-like protein SgK307
    sugen kinase 307
    testis-expressed protein 14
    testis-expressed sequence 14 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_047169.1 RefSeqGene

      Range
      5035..140402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001201457.2NP_001188386.1  inactive serine/threonine-protein kinase TEX14 isoform c

      See identical proteins and their annotated locations for NP_001188386.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AI243203, AL834143, BC040526, CB044007, DB086121
      Consensus CDS
      CCDS56042.1
      UniProtKB/Swiss-Prot
      A6NH19, Q7RTP3, Q8IWB6, Q8ND97, Q9BXT9
      Related
      ENSP00000240361.8, ENST00000240361.12
      Conserved Domains (4) summary
      cd00204
      Location:27125
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14011
      Location:175513
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      pfam12796
      Location:27119
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:2753
      ANK; ANK repeat [structural motif]
    2. NM_031272.5NP_112562.3  inactive serine/threonine-protein kinase TEX14 isoform b

      See identical proteins and their annotated locations for NP_112562.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon and lacks an alternate in-frame exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AI243203, BK000998, CB044007, DB086121
      Consensus CDS
      CCDS32692.1
      UniProtKB/Swiss-Prot
      Q8IWB6
      Related
      ENSP00000268910.8, ENST00000349033.10
      Conserved Domains (4) summary
      cd00204
      Location:27125
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14011
      Location:175507
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      pfam12796
      Location:27119
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:2753
      ANK; ANK repeat [structural motif]
    3. NM_198393.4NP_938207.2  inactive serine/threonine-protein kinase TEX14 isoform a

      See identical proteins and their annotated locations for NP_938207.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AI243203, AL834143, CB044007, DB086121
      Consensus CDS
      CCDS32693.1
      UniProtKB/Swiss-Prot
      Q8IWB6
      Related
      ENSP00000374584.3, ENST00000389934.7
      Conserved Domains (4) summary
      cd00204
      Location:27125
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14011
      Location:175507
      PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
      pfam12796
      Location:27119
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:2753
      ANK; ANK repeat [structural motif]

    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
      58556678..58692045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      59424548..59559911 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)