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Aliases for TLL2 Gene

Aliases for TLL2 Gene

  • Tolloid Like 2 2 3 5
  • Tolloid-Like Protein 2 3
  • EC 3.4.24.- 4
  • 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 chain trimerization and Degradation of the extracellular matrix. Gene Ontology (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

Additional gene information for TLL2 Gene

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

Genomics for TLL2 Gene

GeneHancer (GH) Regulatory Elements for TLL2 Gene

Promoters and enhancers for TLL2 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
GH10J096513 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 656.8 +0.2 229 1.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 GLI4 ZNF2 ZNF48 ZNF121 GLIS2 TLL2 NPM1P26 TCTN3 ZNF518A EXOSC1 ALDH18A1 GC10M096095
GH10J096512 Enhancer 0.7 ENCODE 650.7 +1.1 1127 0.2 CTCF ZBTB6 ARID4B ZIC2 ZNF335 ZNF600 PRDM10 EZH2 ZBTB20 ZNF280D TLL2 GC10M096095
GH10J096514 Enhancer 0.6 ENCODE 650.7 -0.6 -583 0.2 CTCF MXI1 ZNF362 L3MBTL2 SIN3A FEZF1 HMBOX1 KDM1A PRDM1 ZBTB17 TLL2 NPM1P26
GH10J096605 Enhancer 1 ENCODE dbSUPER 13.1 -96.5 -96476 9.8 FOXA2 TCF12 ZBTB11 NFIC HMBOX1 HNF4A KDM1A ZNF24 SOX13 MEIS2 PIR47263 NPM1P26 TLL2 PIK3AP1 OPALIN GC10P096620 LOC105378443
GH10J096374 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 5.6 +138.6 138610 1 FOXA2 ARID4B SIN3A ZNF2 IRF4 ZNF48 YY1 GLIS2 ZNF213 ZNF143 GC10P096374 TLL2 GC10P096415 GC10M096095
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TLL2 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • c-Myb
  • FOXO4
  • TFIID
  • TBP
  • YY1
  • AML1a
  • FOXJ2 (long isoform)
  • FOXJ2

Genomic Locations for TLL2 Gene

Genomic Locations for TLL2 Gene
chr10:96,364,606-96,513,926
(GRCh38/hg38)
Size:
149,321 bases
Orientation:
Minus strand
chr10:98,124,363-98,273,683
(GRCh37/hg19)
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 posLast=805805, posLast=628628, posLast=392392, isoforms=361, posLast=327327, and posLast=171171
  • Modification sites at PhosphoSitePlus

Other Protein References for TLL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TLL2 Gene

Domains & Families for TLL2 Gene

Gene Families for TLL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

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 :
  • Belongs to the peptidase M12A family.
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

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.
GENATLAS Biochemistry:
tolloid-like gene 2

Enzyme Numbers (IUBMB) for TLL2 Gene

Phenotypes From GWAS Catalog 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:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity 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:
  • Tll2 Tll2<tm1.1Sjl>

Animal Model Products

  • Taconic Biosciences Mouse Models for TLL2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLL2

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
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 TLL2 gene
Compartment Confidence
extracellular 5
plasma membrane 1
endoplasmic reticulum 1
lysosome 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLL2 Gene

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

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TLL2 Gene

Tolloid-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLL2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for TLL2 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with TLL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TLL2 34 33
  • 98.22 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TLL2 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TLL2 34 33
  • 90.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TLL2 34 33
  • 89.56 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TLL2 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tll2 16 34 33
  • 86.3 (n)
rat
(Rattus norvegicus)
Mammalia Tll2 33
  • 85.95 (n)
chicken
(Gallus gallus)
Aves TLL2 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 14 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.36 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16546 33
zebrafish
(Danio rerio)
Actinopterygii CR352286.1 34
  • 12 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta tld 34 35
  • 40 (a)
ManyToMany
tok 34 35
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nas-39 34
  • 42 (a)
OneToMany
F38E9.2 35
  • 40 (a)
T04G9.2 35
  • 40 (a)
Y95B8A.1 35
  • 37 (a)
F09E8.6 35
  • 37 (a)
C34D4.9 35
  • 36 (a)
C07D10.4 35
  • 35 (a)
toh-2 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TLL2: view image

Paralogs for TLL2 Gene

Paralogs for TLL2 Gene

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

  • TLL2_HUMAN
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 Variation AA Info Type
rs1000059509 -- 96,475,279(-) G/A intron_variant
rs1000093979 -- 96,477,302(-) T/C intron_variant
rs1000140959 -- 96,413,533(-) G/A intron_variant
rs1000157768 -- 96,487,291(-) A/G intron_variant
rs1000167485 -- 96,500,591(-) C/T 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)

Additional Variant Information for TLL2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for TLL2

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 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 (Journal of molecular biology 2008) 3 22 58
  2. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch KP … Jacob C (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 44 58
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  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) 3 4 58

Products for TLL2 Gene

Sources for TLL2 Gene

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