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TLL2 tolloid like 2 [ Homo sapiens (human) ]

Gene ID: 7093, updated on 22-Aug-2020

Summary

Official Symbol
TLL2provided by HGNC
Official Full Name
tolloid like 2provided by HGNC
Primary source
HGNC:HGNC:11844
See related
Ensembl:ENSG00000095587 MIM:606743
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See TLL2 in Genome Data Viewer
Location:
10q24.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (96364608..96513926, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98124363..98273683, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene DNA nucleotidylexotransferase Neighboring gene oligodendrocytic myelin paranodal and inner loop protein Neighboring gene transmembrane 9 superfamily member 3 Neighboring gene uncharacterized LOC105378443 Neighboring gene nucleophosmin 1 pseudogene 26 Neighboring gene phosphoinositide-3-kinase adaptor protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0932, MGC133312, MGC133313

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of skeletal muscle tissue growth IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012465.4NP_036597.1  tolloid-like protein 2 precursor

    See identical proteins and their annotated locations for NP_036597.1

    Status: VALIDATED

    Source sequence(s)
    AB023149, AL136181, AW452288, BC112341, DA716349
    Consensus CDS
    CCDS7449.1
    UniProtKB/Swiss-Prot
    Q9Y6L7
    Related
    ENSP00000350630.3, ENST00000357947.4
    Conserved Domains (4) summary
    cd04281
    Location:150349
    ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
    pfam00431
    Location:464573
    CUB; CUB domain
    pfam01400
    Location:157350
    Astacin; Astacin (Peptidase family M12A)
    pfam14670
    Location:736771
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    96364608..96513926 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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