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Aliases for TXLNB Gene

Aliases for TXLNB Gene

  • Taxilin Beta 2 3 5
  • Muscle-Derived Protein 77 3 4
  • C6orf198 3 4
  • MDP77 3 4
  • Chromosome 6 Open Reading Frame 198 2
  • Beta-Taxilin 3
  • DJ522B19.2 3
  • LST001 3
  • HMDP77 4

External Ids for TXLNB Gene

Previous HGNC Symbols for TXLNB Gene

  • C6orf198

Previous GeneCards Identifiers for TXLNB Gene

  • GC06M139603
  • GC06M137122

Summaries for TXLNB Gene

GeneCards Summary for TXLNB Gene

TXLNB (Taxilin Beta) is a Protein Coding gene. Diseases associated with TXLNB include Myotonic Disease and Myotonic Dystrophy 1. Gene Ontology (GO) annotations related to this gene include syntaxin binding. An important paralog of this gene is TXLNA.

UniProtKB/Swiss-Prot for TXLNB Gene

  • Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic.

Gene Wiki entry for TXLNB Gene

Additional gene information for TXLNB Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TXLNB Gene

Genomics for TXLNB Gene

GeneHancer (GH) Regulatory Elements for TXLNB Gene

Promoters and enhancers for TXLNB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J139289 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 707.7 +32.3 32319 4.7 HDGF PKNOX1 ZNF133 FEZF1 ZNF2 IRF4 ATF7 ZNF548 FOS RUNX3 TXLNB ENSG00000225148 LOC102723690 CITED2 HECA REPS1 ABRACL ENSG00000272446
GH06J139322 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -0.4 -419 3.4 HDGF FOXA2 SIN3A BMI1 BATF YY1 FOS ETV6 IKZF2 RUNX3 TXLNB LOC102723690 LINC01625 HECA ABRACL LOC100129844
GH06J139279 Enhancer 1 Ensembl ENCODE dbSUPER 47.8 +44.2 44155 1.7 HDGF HLF CEBPB MAX EBF1 POLR2A IKZF1 EED MYC RUNX3 TXLNB ENSG00000272446 LOC102723690
GH06J139277 Enhancer 0.8 Ensembl ENCODE dbSUPER 27.4 +46.0 46002 1.4 KLF1 ATF2 ENSG00000272446 TXLNB LOC102723690
GH06J139285 Enhancer 0.3 dbSUPER 48.6 +37.9 37862 1.5 ZNF610 TXLNB ENSG00000272446 LOC102723690
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TXLNB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TXLNB gene promoter:
  • MEF-2A
  • aMEF-2
  • C/EBPalpha
  • POU2F1a
  • POU2F1
  • FOXF2
  • POU2F1b
  • POU2F1c

Genomic Locations for TXLNB Gene

Genomic Locations for TXLNB Gene
chr6:139,159,160-139,324,011
(GRCh38/hg38)
Size:
164,852 bases
Orientation:
Minus strand
chr6:139,561,198-139,613,276
(GRCh37/hg19)
Size:
52,079 bases
Orientation:
Minus strand

Genomic View for TXLNB Gene

Genes around TXLNB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TXLNB Gene

Proteins for TXLNB Gene

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

    Protein Symbol:
    Q8N3L3-TXLNB_HUMAN
    Recommended name:
    Beta-taxilin
    Protein Accession:
    Q8N3L3
    Secondary Accessions:
    • Q5HYH7
    • Q5VTF3
    • Q76L25
    • Q86T52
    • Q8N3S2

    Protein attributes for TXLNB Gene

    Size:
    684 amino acids
    Molecular mass:
    76519 Da
    Quaternary structure:
    • Binds to the C-terminal coiled coil region of syntaxin family members STX1A, STX3A and STX4A. Has a preference for STX1A.
    SequenceCaution:
    • Sequence=CAD38924.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD91140.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TXLNB Gene

Post-translational modifications for TXLNB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TXLNB Gene

No data available for DME Specific Peptides for TXLNB Gene

Domains & Families for TXLNB Gene

Gene Families for TXLNB Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TXLNB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TXLNB Gene

Graphical View of Domain Structure for InterPro Entry

Q8N3L3

UniProtKB/Swiss-Prot:

TXLNB_HUMAN :
  • Belongs to the taxilin family.
Family:
  • Belongs to the taxilin family.
genes like me logo Genes that share domains with TXLNB: view

Function for TXLNB Gene

Molecular function for TXLNB Gene

UniProtKB/Swiss-Prot Function:
Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic.

Phenotypes From GWAS Catalog for TXLNB Gene

Gene Ontology (GO) - Molecular Function for TXLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21903422
GO:0019905 syntaxin binding IEA --
genes like me logo Genes that share ontologies with TXLNB: view
genes like me logo Genes that share phenotypes with TXLNB: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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

Localization for TXLNB Gene

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 TXLNB gene
Compartment Confidence
nucleus 2
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TXLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with TXLNB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TXLNB Gene

Pathways & Interactions for TXLNB Gene

SuperPathways for TXLNB Gene

No Data Available

Gene Ontology (GO) - Biological Process for TXLNB Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TXLNB Gene

Drugs & Compounds for TXLNB Gene

No Compound Related Data Available

Transcripts for TXLNB Gene

mRNA/cDNA for TXLNB Gene

Unigene Clusters for TXLNB Gene

Taxilin beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for TXLNB Gene

GeneLoc Exon Structure for
TXLNB
ECgene alternative splicing isoforms for
TXLNB

Expression for TXLNB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x28.4), Heart - Left Ventricle (x10.2), and Heart - Atrial Appendage (x5.8).

Protein differential expression in normal tissues from HIPED for TXLNB Gene

This gene is overexpressed in Testis (37.6), Heart (14.6), Ovary (8.0), and Fetal heart (7.3).

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



Protein tissue co-expression partners for TXLNB Gene

NURSA nuclear receptor signaling pathways regulating expression of TXLNB Gene:

TXLNB

SOURCE GeneReport for Unigene cluster for TXLNB Gene:

Hs.535820

mRNA Expression by UniProt/SwissProt for TXLNB Gene:

Q8N3L3-TXLNB_HUMAN
Tissue specificity: Expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for TXLNB Gene

  • Muscle(4.7)
  • Heart(2.8)
genes like me logo Genes that share expression patterns with TXLNB: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TXLNB Gene

Orthologs for TXLNB Gene

This gene was present in the common ancestor of animals.

Orthologs for TXLNB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TXLNB 34 33
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TXLNB 34 33
  • 84.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TXLNB 34 33
  • 83.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Txlnb 33
  • 77.48 (n)
mouse
(Mus musculus)
Mammalia Txlnb 16 34 33
  • 77.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TXLNB 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TXLNB 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXLNB 34 33
  • 70.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TXLNB 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia txlnb 33
  • 69.52 (n)
zebrafish
(Danio rerio)
Actinopterygii txlnbb 34
  • 47 (a)
OneToMany
txlnba 34
  • 35 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2928 33
fruit fly
(Drosophila melanogaster)
Insecta CG5886 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T22C1.6 34
  • 30 (a)
OneToMany
Species where no ortholog for TXLNB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)

Evolution for TXLNB Gene

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

Paralogs for TXLNB Gene

Paralogs for TXLNB Gene

(5) SIMAP similar genes for TXLNB Gene using alignment to 4 proteins:

  • TXLNB_HUMAN
  • H0UI60_HUMAN
  • H0UI61_HUMAN
  • H7BY59_HUMAN
genes like me logo Genes that share paralogs with TXLNB: view

Variants for TXLNB Gene

Sequence variations from dbSNP and Humsavar for TXLNB Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000014570 -- 139,182,437(-) TTT/TTTTT genic_downstream_transcript_variant, intron_variant
rs1000015718 -- 139,198,003(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000040674 -- 139,216,630(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000040893 -- 139,170,304(-) C/G/T genic_downstream_transcript_variant, intron_variant
rs1000041574 -- 139,287,812(-) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1019e201 CNV deletion 23290073
dgv1020e201 CNV deletion 23290073
dgv10950n54 CNV loss 21841781
dgv10951n54 CNV loss 21841781
dgv10952n54 CNV loss 21841781
dgv1155e199 CNV deletion 23128226
esv2223307 CNV deletion 18987734
esv2421923 CNV deletion 20811451
esv2667716 CNV deletion 23128226
esv2670136 CNV deletion 23128226
esv29795 CNV gain 19812545
esv33633 CNV loss 17666407
esv3540540 CNV deletion 23714750
esv3540541 CNV deletion 23714750
esv3610969 CNV loss 21293372
nsv499774 CNV loss 21111241
nsv508433 CNV deletion 20534489
nsv511325 CNV loss 21212237
nsv511917 CNV loss 21212237
nsv514391 CNV loss 21397061
nsv5501 CNV deletion 18451855
nsv604753 CNV loss 21841781
nsv819805 CNV gain 19587683
nsv821147 CNV deletion 20802225
nsv823848 CNV loss 20364138
nsv823849 CNV gain 20364138

Variation tolerance for TXLNB Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.55; 92.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TXLNB Gene

Human Gene Mutation Database (HGMD)
TXLNB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TXLNB

SNP Genotyping and Copy Number Assay Products

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

Disorders for TXLNB Gene

MalaCards: The human disease database

(2) MalaCards diseases for TXLNB Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
myotonic disease
  • myotonic disorders
myotonic dystrophy 1
  • dm1
- elite association - COSMIC cancer census association via MalaCards
Search TXLNB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TXLNB

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

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

Publications for TXLNB Gene

  1. Identification and characterization of taxilin isoforms. (PMID: 15184072) Nogami S … Shirataki H (Biochemical and biophysical research communications 2004) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 58
  4. Muscle-specific protein MDP77 specifically promotes motor nerve regeneration in rats. (PMID: 15082161) Itoh S … Taguchi T (Neuroscience letters 2004) 3 4 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for TXLNB Gene

Sources for TXLNB Gene

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