This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008] See more...

Aliases for TEX12 Gene

Aliases for TEX12 Gene

  • Testis Expressed 12 2 3 5
  • Testis Expressed Sequence 12 2 3
  • Testis-Expressed Protein 12 3 4
  • Testis-Expressed Sequence 12 Protein Variant 1 3
  • Testis-Expressed Sequence 12 Protein Variant 2 3
  • Testis-Expressed Sequence 12 Protein Variant 3 3
  • TEX12 5

External Ids for TEX12 Gene

Previous GeneCards Identifiers for TEX12 Gene

  • GC11U990274
  • GC11P113550
  • GC11P112071
  • GC11P111575
  • GC11P111543
  • GC11P112038
  • GC11P107962

Summaries for TEX12 Gene

Entrez Gene Summary for TEX12 Gene

  • This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]

GeneCards Summary for TEX12 Gene

TEX12 (Testis Expressed 12) is a Protein Coding gene. Diseases associated with TEX12 include Hyperphenylalaninemia and Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome. Among its related pathways are Meiosis and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot Summary for TEX12 Gene

  • Component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase (By similarity). Requires SYCP1 in order to be incorporated into the central element (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TEX12 Gene

Genomics for TEX12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TEX12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TEX12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TEX12

Top Transcription factor binding sites by QIAGEN in the TEX12 gene promoter:
  • ATF-2
  • IRF-7A
  • NF-kappaB
  • NF-kappaB1
  • TBP

Genomic Locations for TEX12 Gene

Latest Assembly
chr11:112,167,372-112,172,556
(GRCh38/hg38)
Size:
5,185 bases
Orientation:
Plus strand

Previous Assembly
chr11:112,038,095-112,043,279
(GRCh37/hg19 by Entrez Gene)
Size:
5,185 bases
Orientation:
Plus strand

chr11:112,038,095-112,043,282
(GRCh37/hg19 by Ensembl)
Size:
5,188 bases
Orientation:
Plus strand

Genomic View for TEX12 Gene

Genes around TEX12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TEX12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TEX12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TEX12 Gene

Proteins for TEX12 Gene

  • Protein details for TEX12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXU0-TEX12_HUMAN
    Recommended name:
    Testis-expressed protein 12
    Protein Accession:
    Q9BXU0
    Secondary Accessions:
    • A6NDL9
    • B0YIX3

    Protein attributes for TEX12 Gene

    Size:
    123 amino acids
    Molecular mass:
    14107 Da
    Quaternary structure:
    • Interacts with SYCE2.

    Three dimensional structures from OCA and Proteopedia for TEX12 Gene

neXtProt entry for TEX12 Gene

Post-translational modifications for TEX12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TEX12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TEX12 Gene

Domains & Families for TEX12 Gene

Gene Families for TEX12 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TEX12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TEX12 Gene

GenScript: Design optimal peptide antigens:
  • Testis-expressed sequence 12 protein variant 1 (B0YIX2_HUMAN)
  • Testis-expressed sequence 12 protein (TEX12_HUMAN)
genes like me logo Genes that share domains with TEX12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TEX12 Gene

Function for TEX12 Gene

Molecular function for TEX12 Gene

UniProtKB/Swiss-Prot Function:
Component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase (By similarity). Requires SYCP1 in order to be incorporated into the central element (By similarity).

Phenotypes From GWAS Catalog for TEX12 Gene

Gene Ontology (GO) - Molecular Function for TEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with TEX12: view

Phenotypes for TEX12 Gene

genes like me logo Genes that share phenotypes with TEX12: view

Animal Models for TEX12 Gene

MGI Knock Outs for TEX12:

miRNA for TEX12 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TEX12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TEX12 Gene

Localization for TEX12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEX12 Gene

Chromosome. Note=In prophase I stage of meiosis, localizes in the transverse central elements of the central region between lateral elements of the synaptonemal complexes. Found only where the chromosome cores are synapsed. {ECO:0000250 UniProtKB:Q9CR81}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TEX12 gene
Compartment Confidence
nucleus 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for TEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000795 synaptonemal complex IEA --
GO:0000801 central element IBA,ISS --
GO:0005694 chromosome IEA,ISS --
genes like me logo Genes that share ontologies with TEX12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TEX12 Gene

Pathways & Interactions for TEX12 Gene

PathCards logo

SuperPathways for TEX12 Gene

SuperPathway Contained pathways
1 Meiosis
.73
2 Cell Cycle, Mitotic
genes like me logo Genes that share pathways with TEX12: view

Pathways by source for TEX12 Gene

3 Reactome pathways for TEX12 Gene

Gene Ontology (GO) - Biological Process for TEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000711 meiotic DNA repair synthesis IEA --
GO:0007130 synaptonemal complex assembly IBA 21873635
genes like me logo Genes that share ontologies with TEX12: view

No data available for SIGNOR curated interactions for TEX12 Gene

Drugs & Compounds for TEX12 Gene

No Compound Related Data Available

Transcripts for TEX12 Gene

mRNA/cDNA for TEX12 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TEX12

Alternative Splicing Database (ASD) splice patterns (SP) for TEX12 Gene

No ASD Table

Relevant External Links for TEX12 Gene

GeneLoc Exon Structure for
TEX12

Expression for TEX12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TEX12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TEX12 Gene

This gene is overexpressed in Testis (x21.7).

Protein differential expression in normal tissues from HIPED for TEX12 Gene

This gene is overexpressed in Fetal ovary (49.1) and Ovary (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TEX12 Gene



Protein tissue co-expression partners for TEX12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TEX12

SOURCE GeneReport for Unigene cluster for TEX12 Gene:

Hs.524039

mRNA Expression by UniProt/SwissProt for TEX12 Gene:

Q9BXU0-TEX12_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with TEX12: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TEX12 Gene

Orthologs for TEX12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TEX12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TEX12 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TEX12 30 31
  • 91.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TEX12 30 31
  • 89.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tex12 30 17 31
  • 86.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tex12 30
  • 85.91 (n)
Oppossum
(Monodelphis domestica)
Mammalia TEX12 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TEX12 30
  • 58.4 (n)
Species where no ortholog for TEX12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TEX12 Gene

ENSEMBL:
Gene Tree for TEX12 (if available)
TreeFam:
Gene Tree for TEX12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TEX12: view image

Paralogs for TEX12 Gene

No data available for Paralogs for TEX12 Gene

Variants for TEX12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TEX12 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs750229518 Conflicting Interpretations: BH4-deficient hyperphenylalaninemia A; not provided 112,228,656(+) A/G
NM_000317.3(PTS):c.146A>G (p.His49Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TEX12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TEX12 Gene

Variant ID Type Subtype PubMed ID
esv2745077 CNV deletion 23290073
nsv519192 CNV gain 19592680

Variation tolerance for TEX12 Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TEX12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TEX12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TEX12 Gene

Disorders for TEX12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TEX12 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hyperphenylalaninemia
  • hyperphenylalaninaemia
immunodeficiency-centromeric instability-facial anomalies syndrome
  • icf syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TEX12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TEX12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TEX12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TEX12 Gene

Publications for TEX12 Gene

  1. An abundance of X-linked genes expressed in spermatogonia. (PMID: 11279525) Wang PJ … Page DC (Nature genetics 2001) 2 3 4
  2. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TEX12 Gene

Sources for TEX12 Gene