TLL2 tolloid like 2 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:11844
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: mouse all
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Genomic context

Location:: 10q24.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (96364608..96513926, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (97243944..97395061, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (98124365..98273683, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

genomic analysis identified compound heterozygous mutations at TLL2 on the male patient's genome, and compound heterozygous mutations at VPS13A and the de novo mutation at AGAP5 on female patient's genome
Title: Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report.
Findings suggest that these MMP16 rs10090371, ADAMTS3 rs788935, TLL2 rs10882807 and MMP9 rs3918251 may be promising prognostic biomarkers for cutaneous melanoma specific survival (CMSS).
Title: Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival.
By means of a cross-species comparative genetic strategy we describe an association for TLL2 with bipolar disorder.
Title: Cross-species genetics converge to TLL2 for mouse avoidance behavior and human bipolar disorder.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
The crystal structures of the protease domains of human BMP-1 and the closely related Tolloid-like protease 1 (TLL-1), are reported.
Title: Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62504 (e-PCR)
- UniSTS:139562

D10S1257 (e-PCR)
- UniSTS:35380

SHGC-148720 (e-PCR)
- UniSTS:176577

G59526 (e-PCR)
- UniSTS:136689

Homology

Homologs of the TLL2 gene: The TLL2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 298 organisms have orthologs with human gene TLL2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	TAS Traceable Author Statement more info
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of skeletal muscle tissue growth	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: tolloid-like protein 2

NCBI Reference Sequences (RefSeq)

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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)

NM_012465.4 → NP_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

Q9UQ00, Q9Y6L7

Related

ENSP00000350630.3, ENST00000357947.4

Conserved Domains (4) summary

cd04281
Location:150 → 349

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:464 → 573

CUB; CUB domain

pfam01400
Location:157 → 350

Astacin; Astacin (Peptidase family M12A)

pfam14670
Location:736 → 771

FXa_inhibition; Coagulation Factor Xa inhibitory site