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

Gene ID: 56155, updated on 5-Mar-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
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Genomic context

Location:
17q22
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58556678..58692045, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59424548..59559911, complement)
105.20220307 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
  • 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
 
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)

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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.

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_2023_10

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)