Aliases for TLCD5 Gene

Aliases for TLCD5 Gene

  • TLC Domain Containing 5 2 3
  • Transmembrane Protein 136 2 3 4 5
  • TMEM136 3 4 5
  • TLC Domain-Containing Protein 5 3 4

External Ids for TLCD5 Gene

Previous HGNC Symbols for TLCD5 Gene

  • TMEM136

Summaries for TLCD5 Gene

GeneCards Summary for TLCD5 Gene

TLCD5 (TLC Domain Containing 5) is a Protein Coding gene. Diseases associated with TLCD5 include Phacogenic Glaucoma and Iris Disease.

Additional gene information for TLCD5 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TLCD5 Gene

Genomics for TLCD5 Gene

GeneHancer (GH) Regulatory Elements for TLCD5 Gene

Promoters and enhancers for TLCD5 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
GH11J120324 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 767 +1.7 1696 4.2 CTCF ZBTB6 POLR2A USF2 L3MBTL2 ZNF121 SP1 ZNF280D NKRF ELF3 TLCD5 ARHGEF12 lnc-TRIM29-4
GH11J120334 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 29.1 +13.7 13715 8.5 GTF3C2 ZNF785 SP1 ZBTB40 CTCF ZBTB6 LCORL FOXA1 RBPJ SMARCE1 ARHGEF12 TLCD5 TECTA ENSG00000274303
GH11J120347 Enhancer 1.1 ENCODE dbSUPER 59.3 +22.7 22727 1.1 ZBTB6 CTBP1 ZNF701 ETV6 RAD21 BCL6B ZNF473 SP1 SP7 ZSCAN21 TLCD5 TBCEL TECTA HMGB1P42 ENSG00000254892 ARHGEF12 ENSG00000274303
GH11J120390 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 23.5 +67.0 66971 3.2 RBPJ MIXL1 NFYC HLF ELF3 ZNF644 KAT8 GATAD2A SP1 SOX13 ARHGEF12 TLCD5 TBCEL BMPR1AP2 piR-57461-038 GRIK4
GH11J120354 Enhancer 1.1 Ensembl ENCODE dbSUPER 25.1 +29.2 29171 2.8 RBPJ MIXL1 SP1 CBFA2T2 ZNF24 PPARG KAT8 TCF7L2 GATAD2A ZEB2 TLCD5 ARHGEF12 ENSG00000274303
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLCD5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TLCD5 Gene

Genomic Locations for TLCD5 Gene
chr11:120,324,630-120,333,688
(GRCh38/hg38)
Size:
9,059 bases
Orientation:
Plus strand
chr11:120,195,838-120,204,391
(GRCh37/hg19)
Size:
8,554 bases
Orientation:
Plus strand

Genomic View for TLCD5 Gene

Genes around TLCD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLCD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLCD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLCD5 Gene

Proteins for TLCD5 Gene

  • Protein details for TLCD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRR5-TLCD5_HUMAN
    Recommended name:
    TLC domain-containing protein 5
    Protein Accession:
    Q6ZRR5
    Secondary Accessions:
    • B4DGQ4
    • B4E230
    • Q8IZ79

    Protein attributes for TLCD5 Gene

    Size:
    245 amino acids
    Molecular mass:
    27859 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TLCD5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLCD5 Gene

Post-translational modifications for TLCD5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TLCD5 Gene

Domains & Families for TLCD5 Gene

Gene Families for TLCD5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TLCD5 Gene

Suggested Antigen Peptide Sequences for TLCD5 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 136 (TM136_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZRR5

UniProtKB/Swiss-Prot:

TLCD5_HUMAN :
  • Belongs to the TLCD5 family.
Family:
  • Belongs to the TLCD5 family.
genes like me logo Genes that share domains with TLCD5: view

Function for TLCD5 Gene

Phenotypes From GWAS Catalog for TLCD5 Gene

genes like me logo Genes that share phenotypes with TLCD5: view

Animal Models for TLCD5 Gene

MGI Knock Outs for TLCD5:

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLCD5 Gene

Localization for TLCD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLCD5 Gene

Membrane; Multi-pass membrane protein.

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 TLCD5 gene
Compartment Confidence
plasma membrane 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TLCD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TLCD5: view

Pathways & Interactions for TLCD5 Gene

PathCards logo

SuperPathways for TLCD5 Gene

No Data Available

Interacting Proteins for TLCD5 Gene

Gene Ontology (GO) - Biological Process for TLCD5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TLCD5 Gene

Drugs & Compounds for TLCD5 Gene

No Compound Related Data Available

Transcripts for TLCD5 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLCD5 Gene

No ASD Table

Relevant External Links for TLCD5 Gene

GeneLoc Exon Structure for
TLCD5
ECgene alternative splicing isoforms for
TLCD5

Expression for TLCD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of TLCD5 Gene:

TLCD5

SOURCE GeneReport for Unigene cluster for TLCD5 Gene:

Hs.643516

Evidence on tissue expression from TISSUES for TLCD5 Gene

  • Nervous system(4.6)
  • Pancreas(4)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLCD5 Gene

Orthologs for TLCD5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TLCD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM136 33 32
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM136 33 32
  • 90.92 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM136 33
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM136 33 32
  • 89.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem136 17 33 32
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Tmem136 32
  • 88.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM136 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM136 33
  • 72 (a)
OneToOne
LOC100857845 32
  • 70.88 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM136 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489109 32
  • 68.43 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537789 32
  • 64.79 (n)
TMEM136 (3 of 3) 33
  • 58 (a)
OneToMany
tmem136b 33
  • 57 (a)
OneToMany
tmem136a 33
  • 56 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 41 (a)
OneToOne
Species where no ortholog for TLCD5 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TLCD5 Gene

ENSEMBL:
Gene Tree for TLCD5 (if available)
TreeFam:
Gene Tree for TLCD5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLCD5: view image

Paralogs for TLCD5 Gene

No data available for Paralogs for TLCD5 Gene

Variants for TLCD5 Gene

Sequence variations from dbSNP and Humsavar for TLCD5 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000265530 -- 120,325,318(+) C/A/T 5_prime_UTR_variant
rs1000670121 -- 120,326,095(+) A/G intron_variant
rs1000866460 -- 120,325,759(+) C/A intron_variant
rs1001335590 -- 120,323,437(+) C/T upstream_transcript_variant
rs1001532648 -- 120,329,724(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TLCD5 Gene

Variant ID Type Subtype PubMed ID
esv1582263 CNV insertion 17803354
esv2457390 CNV insertion 19546169
esv2533688 CNV deletion 19546169
esv2549681 CNV deletion 19546169
nsv1129158 CNV insertion 24896259
nsv1134181 CNV deletion 24896259

Variation tolerance for TLCD5 Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLCD5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLCD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLCD5 Gene

Disorders for TLCD5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TLCD5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
phacogenic glaucoma
iris disease
  • iris diseases
- elite association - COSMIC cancer census association via MalaCards
Search TLCD5 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with TLCD5: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for TLCD5 Gene

Publications for TLCD5 Gene

  1. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. (PMID: 28553957) Aung T … Khor CC (Nature genetics 2017) 2 3 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 56
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4 56
  5. 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) 4 56

Products for TLCD5 Gene

Sources for TLCD5 Gene