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Aliases for TLL2 Gene

Aliases for TLL2 Gene

  • Tolloid Like 2 2 3 5
  • EC 3.4.24.19 61
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • KIAA0932 4

External Ids for TLL2 Gene

Previous GeneCards Identifiers for TLL2 Gene

  • GC10M097019
  • GC10M097358
  • GC10M098255
  • GC10M097788
  • GC10M098114
  • GC10M091752

Summaries for TLL2 Gene

Entrez Gene Summary for TLL2 Gene

  • This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]

GeneCards Summary for TLL2 Gene

TLL2 (Tolloid Like 2) is a Protein Coding gene. Diseases associated with TLL2 include Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Collagen biosynthesis and modifying enzymes and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is TLL1.

UniProtKB/Swiss-Prot for TLL2 Gene

  • Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.

Gene Wiki entry for TLL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLL2 Gene

Genomics for TLL2 Gene

Regulatory Elements for TLL2 Gene

Enhancers for TLL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TLL2 on UCSC Golden Path with GeneCards custom track

Promoters for TLL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TLL2 Gene

Chromosome:
10
Start:
96,364,606 bp from pter
End:
96,513,926 bp from pter
Size:
149,321 bases
Orientation:
Minus strand

Genomic View for TLL2 Gene

Genes around TLL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLL2 Gene

Proteins for TLL2 Gene

  • Protein details for TLL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6L7-TLL2_HUMAN
    Recommended name:
    Tolloid-like protein 2
    Protein Accession:
    Q9Y6L7
    Secondary Accessions:
    • A6NDK0
    • Q2M1H1
    • Q6PJN5
    • Q9UQ00

    Protein attributes for TLL2 Gene

    Size:
    1015 amino acids
    Molecular mass:
    113557 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76776.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TLL2 Gene

Post-translational modifications for TLL2 Gene

  • Glycosylation at Asn 171, Thr 327, Asn 361, Asn 392, Asn 628, and Asn 805
  • Modification sites at PhosphoSitePlus

Other Protein References for TLL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TLL2 Gene

Gene Families for TLL2 Gene

Suggested Antigen Peptide Sequences for TLL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6L7

UniProtKB/Swiss-Prot:

TLL2_HUMAN :
  • Contains 5 CUB domains.
  • Belongs to the peptidase M12A family.
Domain:
  • Contains 5 CUB domains.
  • Contains 2 EGF-like domains.
Family:
  • Belongs to the peptidase M12A family.
genes like me logo Genes that share domains with TLL2: view

Function for TLL2 Gene

Molecular function for TLL2 Gene

GENATLAS Biochemistry:
tolloid-like gene 2
UniProtKB/Swiss-Prot Function:
Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.

Enzyme Numbers (IUBMB) for TLL2 Gene

Gene Ontology (GO) - Molecular Function for TLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with TLL2: view
genes like me logo Genes that share phenotypes with TLL2: view

Animal Models for TLL2 Gene

MGI Knock Outs for TLL2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TLL2

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLL2 Gene

Localization for TLL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLL2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TLL2 Gene COMPARTMENTS Subcellular localization image for TLL2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with TLL2: view

Pathways & Interactions for TLL2 Gene

genes like me logo Genes that share pathways with TLL2: view

Gene Ontology (GO) - Biological Process for TLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007275 multicellular organism development IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030154 cell differentiation IEA --
GO:0048632 negative regulation of skeletal muscle tissue growth IEA --
genes like me logo Genes that share ontologies with TLL2: view

No data available for SIGNOR curated interactions for TLL2 Gene

Drugs & Compounds for TLL2 Gene

(1) Drugs for TLL2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbobenzoxy-Pro-Lys-Phe-Y(Po2)-Ala-Pro-Ome Experimental Pharma Target 0
genes like me logo Genes that share compounds with TLL2: view

Transcripts for TLL2 Gene

mRNA/cDNA for TLL2 Gene

Unigene Clusters for TLL2 Gene

Tolloid-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLL2 Gene

No ASD Table

Relevant External Links for TLL2 Gene

GeneLoc Exon Structure for
TLL2
ECgene alternative splicing isoforms for
TLL2

Expression for TLL2 Gene

mRNA expression in normal human tissues for TLL2 Gene

mRNA differential expression in normal tissues according to GTEx for TLL2 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.6) and Brain - Spinal cord (cervical c-1) (x5.0).

Protein differential expression in normal tissues from HIPED for TLL2 Gene

This gene is overexpressed in Serum (25.6), Peripheral blood mononuclear cells (23.7), Heart (13.1), and Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TLL2 Gene



Protein tissue co-expression partners for TLL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TLL2 Gene:

TLL2

SOURCE GeneReport for Unigene cluster for TLL2 Gene:

Hs.154296
genes like me logo Genes that share expression patterns with TLL2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TLL2 Gene

Orthologs for TLL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TLL2 34
  • 90.08 (n)
  • 92.12 (a)
TLL2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TLL2 34
  • 89.56 (n)
  • 91.32 (a)
TLL2 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tll2 34
  • 85.95 (n)
  • 89.73 (a)
mouse
(Mus musculus)
Mammalia Tll2 16
Tll2 35
  • 90 (a)
OneToOne
Tll2 34
  • 86.3 (n)
  • 90.51 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TLL2 35
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TLL2 35
  • 99 (a)
OneToOne
TLL2 34
  • 98.22 (n)
  • 97.88 (a)
oppossum
(Monodelphis domestica)
Mammalia TLL2 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves TLL2 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 14 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16546 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.36 34
zebrafish
(Danio rerio)
Actinopterygii CR352286.1 35
  • 12 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta tld 36
  • 45 (a)
tok 36
  • 53 (a)
tld 35
  • 40 (a)
ManyToMany
tok 35
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C07D10.4 36
  • 35 (a)
C34D4.9 36
  • 36 (a)
F09E8.6 36
  • 37 (a)
F38E9.2 36
  • 40 (a)
T04G9.2 36
  • 40 (a)
toh-2 36
  • 30 (a)
Y95B8A.1 36
  • 37 (a)
nas-39 35
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for TLL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for TLL2 Gene

ENSEMBL:
Gene Tree for TLL2 (if available)
TreeFam:
Gene Tree for TLL2 (if available)

Paralogs for TLL2 Gene

Paralogs for TLL2 Gene

(3) SIMAP similar genes for TLL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TLL2: view

Variants for TLL2 Gene

Sequence variations from dbSNP and Humsavar for TLL2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1923692 -- 96,413,958(-) GGTAA(A/C)CTGAG intron-variant
rs1923694 -- 96,413,689(-) ACACA(C/G)TACTT intron-variant
rs1923695 -- 96,411,210(-) GCAGT(A/G)GTGCA intron-variant
rs1923696 -- 96,394,513(-) GGGGA(C/T)CTGCT intron-variant
rs1923697 -- 96,394,412(-) TTGAA(C/T)GGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TLL2 Gene

Variant ID Type Subtype PubMed ID
esv1243485 CNV insertion 17803354
esv2622954 CNV insertion 19546169
esv2665154 CNV deletion 23128226
esv3353359 CNV duplication 20981092
esv3579084 CNV loss 25503493
esv3579085 CNV loss 25503493
esv3624295 CNV loss 21293372
nsv1047657 CNV loss 25217958
nsv1110852 OTHER inversion 24896259
nsv509362 CNV insertion 20534489
nsv513012 CNV insertion 21212237
nsv831949 CNV gain 17160897
nsv831950 CNV gain 17160897

Variation tolerance for TLL2 Gene

Residual Variation Intolerance Score: 10.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.76; 66.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLL2 Gene

Disorders for TLL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TLL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search TLL2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TLL2

Genetic Association Database (GAD)
TLL2
Human Genome Epidemiology (HuGE) Navigator
TLL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLL2
genes like me logo Genes that share disorders with TLL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLL2 Gene

Publications for TLL2 Gene

  1. Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PMID: 18824173) Mac Sweeney A. … Gerhartz B. (J. Mol. Biol. 2008) 3 22 65
  2. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch K.P. … Jacob C. (J Neural Transm 2008) 3 46 65
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 65
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for TLL2 Gene

Sources for TLL2 Gene

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