Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7093
Gene name	Tolloid like 2
Gene symbol	TLL2
Synonyms (NCBI Gene)	-
Chromosome	10
Chromosome location	10q24.1
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]

156

Show/Hide all (156)

miRTarBase ID	miRNA	Experiments	Reference
MIRT710357	hsa-miR-2277-3p	HITS-CLIP	19536157
MIRT710356	hsa-miR-514a-3p	HITS-CLIP	19536157
MIRT710355	hsa-miR-514b-3p	HITS-CLIP	19536157
MIRT529107	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT529106	hsa-miR-4803	PAR-CLIP	22012620
MIRT529105	hsa-miR-944	PAR-CLIP	22012620
MIRT710357	hsa-miR-2277-3p	HITS-CLIP	19536157
MIRT710356	hsa-miR-514a-3p	HITS-CLIP	19536157
MIRT710355	hsa-miR-514b-3p	HITS-CLIP	19536157
MIRT529107	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT529106	hsa-miR-4803	PAR-CLIP	22012620
MIRT529105	hsa-miR-944	PAR-CLIP	22012620
MIRT1426626	hsa-miR-1289	CLIP-seq
MIRT1426627	hsa-miR-1324	CLIP-seq
MIRT1426628	hsa-miR-298	CLIP-seq
MIRT1426629	hsa-miR-30a	CLIP-seq
MIRT1426630	hsa-miR-30b	CLIP-seq
MIRT1426631	hsa-miR-30c	CLIP-seq
MIRT1426632	hsa-miR-30d	CLIP-seq
MIRT1426633	hsa-miR-30e	CLIP-seq
MIRT1426634	hsa-miR-3121-3p	CLIP-seq
MIRT1426635	hsa-miR-3125	CLIP-seq
MIRT1426636	hsa-miR-3143	CLIP-seq
MIRT1426637	hsa-miR-3158-5p	CLIP-seq
MIRT1426638	hsa-miR-3166	CLIP-seq
MIRT1426639	hsa-miR-3185	CLIP-seq
MIRT1426640	hsa-miR-3198	CLIP-seq
MIRT1426641	hsa-miR-365	CLIP-seq
MIRT1426642	hsa-miR-3662	CLIP-seq
MIRT1426643	hsa-miR-3665	CLIP-seq
MIRT1426644	hsa-miR-3678-3p	CLIP-seq
MIRT1426645	hsa-miR-3681	CLIP-seq
MIRT1426646	hsa-miR-370	CLIP-seq
MIRT1426647	hsa-miR-380	CLIP-seq
MIRT1426648	hsa-miR-3916	CLIP-seq
MIRT1426649	hsa-miR-3924	CLIP-seq
MIRT1426650	hsa-miR-3941	CLIP-seq
MIRT1426651	hsa-miR-4282	CLIP-seq
MIRT1426652	hsa-miR-4289	CLIP-seq
MIRT1426653	hsa-miR-4292	CLIP-seq
MIRT1426654	hsa-miR-4294	CLIP-seq
MIRT1426655	hsa-miR-4308	CLIP-seq
MIRT1426656	hsa-miR-4309	CLIP-seq
MIRT1426657	hsa-miR-433	CLIP-seq
MIRT1426658	hsa-miR-4418	CLIP-seq
MIRT1426659	hsa-miR-4495	CLIP-seq
MIRT1426660	hsa-miR-4520a-3p	CLIP-seq
MIRT1426661	hsa-miR-4633-5p	CLIP-seq
MIRT1426662	hsa-miR-4640-5p	CLIP-seq
MIRT1426663	hsa-miR-4641	CLIP-seq
MIRT1426664	hsa-miR-4654	CLIP-seq
MIRT1426665	hsa-miR-466	CLIP-seq
MIRT1426666	hsa-miR-4672	CLIP-seq
MIRT1426667	hsa-miR-4726-5p	CLIP-seq
MIRT1426668	hsa-miR-4731-3p	CLIP-seq
MIRT1426669	hsa-miR-4736	CLIP-seq
MIRT1426670	hsa-miR-4769-5p	CLIP-seq
MIRT1426671	hsa-miR-4771	CLIP-seq
MIRT1426672	hsa-miR-4793-5p	CLIP-seq
MIRT1426673	hsa-miR-4801	CLIP-seq
MIRT1426674	hsa-miR-4802-3p	CLIP-seq
MIRT1426675	hsa-miR-489	CLIP-seq
MIRT1426676	hsa-miR-509-3-5p	CLIP-seq
MIRT1426677	hsa-miR-509-5p	CLIP-seq
MIRT1426678	hsa-miR-5096	CLIP-seq
MIRT1426679	hsa-miR-532-5p	CLIP-seq
MIRT1426680	hsa-miR-543	CLIP-seq
MIRT1426681	hsa-miR-548a-3p	CLIP-seq
MIRT1426682	hsa-miR-548a-5p	CLIP-seq
MIRT1426683	hsa-miR-548ab	CLIP-seq
MIRT1426684	hsa-miR-548ak	CLIP-seq
MIRT1426685	hsa-miR-548b-5p	CLIP-seq
MIRT1426686	hsa-miR-548c-5p	CLIP-seq
MIRT1426687	hsa-miR-548d-5p	CLIP-seq
MIRT1426688	hsa-miR-548e	CLIP-seq
MIRT1426689	hsa-miR-548f	CLIP-seq
MIRT1426690	hsa-miR-548h	CLIP-seq
MIRT1426691	hsa-miR-548i	CLIP-seq
MIRT1426692	hsa-miR-548j	CLIP-seq
MIRT1426693	hsa-miR-548k	CLIP-seq
MIRT1426694	hsa-miR-548l	CLIP-seq
MIRT1426695	hsa-miR-548m	CLIP-seq
MIRT1426696	hsa-miR-548w	CLIP-seq
MIRT1426697	hsa-miR-548y	CLIP-seq
MIRT1426698	hsa-miR-552	CLIP-seq
MIRT1426699	hsa-miR-559	CLIP-seq
MIRT1426700	hsa-miR-660	CLIP-seq
MIRT1426701	hsa-miR-670	CLIP-seq
MIRT1426702	hsa-miR-7	CLIP-seq
MIRT1426703	hsa-miR-877	CLIP-seq
MIRT1426704	hsa-miR-940	CLIP-seq
MIRT2127825	hsa-miR-450b-5p	CLIP-seq
MIRT2127826	hsa-miR-4514	CLIP-seq
MIRT2127827	hsa-miR-4692	CLIP-seq
MIRT2127828	hsa-miR-4696	CLIP-seq
MIRT1426669	hsa-miR-4736	CLIP-seq
MIRT2127829	hsa-miR-498	CLIP-seq
MIRT2127830	hsa-miR-548b-3p	CLIP-seq
MIRT1426704	hsa-miR-940	CLIP-seq
MIRT2349519	hsa-miR-129-5p	CLIP-seq
MIRT2349520	hsa-miR-3173-5p	CLIP-seq
MIRT1426653	hsa-miR-4292	CLIP-seq
MIRT1426655	hsa-miR-4308	CLIP-seq
MIRT2349521	hsa-miR-4327	CLIP-seq
MIRT2127826	hsa-miR-4514	CLIP-seq
MIRT1426662	hsa-miR-4640-5p	CLIP-seq
MIRT2127827	hsa-miR-4692	CLIP-seq
MIRT2349522	hsa-miR-4705	CLIP-seq
MIRT1426667	hsa-miR-4726-5p	CLIP-seq
MIRT1426669	hsa-miR-4736	CLIP-seq
MIRT1426701	hsa-miR-670	CLIP-seq
MIRT1426704	hsa-miR-940	CLIP-seq
MIRT2395844	hsa-miR-1910	CLIP-seq
MIRT2395845	hsa-miR-214	CLIP-seq
MIRT2395846	hsa-miR-3619-5p	CLIP-seq
MIRT2395847	hsa-miR-3909	CLIP-seq
MIRT2395848	hsa-miR-761	CLIP-seq
MIRT2461499	hsa-miR-198	CLIP-seq
MIRT1426635	hsa-miR-3125	CLIP-seq
MIRT1426648	hsa-miR-3916	CLIP-seq
MIRT2461500	hsa-miR-3928	CLIP-seq
MIRT2461501	hsa-miR-4485	CLIP-seq
MIRT2461502	hsa-miR-4539	CLIP-seq
MIRT1426681	hsa-miR-548a-3p	CLIP-seq
MIRT1426688	hsa-miR-548e	CLIP-seq
MIRT1426689	hsa-miR-548f	CLIP-seq
MIRT1426703	hsa-miR-877	CLIP-seq
MIRT2461503	hsa-miR-891b	CLIP-seq
MIRT2642987	hsa-miR-1470	CLIP-seq
MIRT2642988	hsa-miR-3156-3p	CLIP-seq
MIRT1426639	hsa-miR-3185	CLIP-seq
MIRT2642989	hsa-miR-345	CLIP-seq
MIRT2642990	hsa-miR-3664-5p	CLIP-seq
MIRT2642991	hsa-miR-4256	CLIP-seq
MIRT2642992	hsa-miR-4301	CLIP-seq
MIRT2642993	hsa-miR-4469	CLIP-seq
MIRT2642994	hsa-miR-4667-3p	CLIP-seq
MIRT2642995	hsa-miR-4709-3p	CLIP-seq
MIRT2642996	hsa-miR-4753-3p	CLIP-seq
MIRT2642997	hsa-miR-4762-3p	CLIP-seq
MIRT2642998	hsa-miR-4768-5p	CLIP-seq
MIRT2642999	hsa-miR-532-3p	CLIP-seq
MIRT2642987	hsa-miR-1470	CLIP-seq
MIRT2642988	hsa-miR-3156-3p	CLIP-seq
MIRT1426639	hsa-miR-3185	CLIP-seq
MIRT2642989	hsa-miR-345	CLIP-seq
MIRT2642990	hsa-miR-3664-5p	CLIP-seq
MIRT2642991	hsa-miR-4256	CLIP-seq
MIRT2642992	hsa-miR-4301	CLIP-seq
MIRT2642993	hsa-miR-4469	CLIP-seq
MIRT2642994	hsa-miR-4667-3p	CLIP-seq
MIRT2642995	hsa-miR-4709-3p	CLIP-seq
MIRT2642996	hsa-miR-4753-3p	CLIP-seq
MIRT2642997	hsa-miR-4762-3p	CLIP-seq
MIRT2642998	hsa-miR-4768-5p	CLIP-seq
MIRT2642999	hsa-miR-532-3p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0048632	Process	Negative regulation of skeletal muscle tissue growth	IEA

MIM	HGNC	e!Ensembl
606743	11844	ENSG00000095587

Q9Y6L7

Protein name

Tolloid-like protein 2 (EC 3.4.24.-)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01400	Astacin	157 → 350	Astacin (Peptidase family M12A)	Domain
PF00431	CUB	351 → 460	CUB domain	Domain
PF00431	CUB	464 → 573	CUB domain	Domain
PF14670	FXa_inhibition	580 → 616		Domain
PF00431	CUB	620 → 729	CUB domain	Domain
PF07645	EGF_CA	732 → 771	Calcium-binding EGF domain	Domain
PF00431	CUB	776 → 885	CUB domain	Domain
PF00431	CUB	889 → 1002	CUB domain	Domain

Sequence

MPRATALGALVSLLLLLPLPRGAGGLGERPDATADYSELDGEEGTEQQLEHYHDPCKAAV
FWGDIALDEDDLKLFHIDKARDWTKQTVGATGHSTGGLEEQASESSPDTTAMDTGTKEAG
KDGRENTTLLHSPGTLHAAAKTFSPRVRRATTSRTERIWPGGVIPYVIGGNFTGSQRAIF
KQAMRHWEKHTCVTFIERTDEESFIVFSYRTCGCCSYVGRRGGGPQAISIGKNCDKFGIV
AHELGHVVGFWHEHTRPDRDQHVTIIRENIQPGQEYNFLKMEAGEVSSLGETYDFDSIMH
YARNTFSRGVFLDTILPRQDDNGVRPTIGQRVRLSQGDIAQARKLYKCPACGETLQDTTG
NFSAPGFPNGYPSYSHCVWRISVTPGEKIVLNFTSMDLFKSRLCWYDYVEVRDGYWRKAP
LLGRFCGDKIPEPLVSTDSRLWVEFRSSSNILGKGFFAAYEATCGGDMNKDAGQIQSPNY
PDDYRPSKECVWRITVSEGFHVGLTFQAFEIERHDSCAYDYLEVRDGPTEESALIGHFCG
YEKPEDVKSSSNRLWMKFVSDGSINKAGFAANFFKEVDECSWPDHGGCEHRCVNTLGSYK
CACDPGYELAADKKMCEVACGGFITKLNGTITSPGWPKEYPTNKNCVWQVVAPAQYRISL
QFEVFELEGNDVCKYDFVEVRSGLSPDAKLHGRFCGSETPEVITSQSNNMRVEFKSDNTV
SKRGFRAHFFSDKDECAKDNGGCQHECVNTFGSYLCRCRNGYWLHENGHDCKEAGCAHKI
SSVEGTLASPNWPDKYPSRRECTWNISSTAGHRVKLTFNEFEIEQHQECAYDHLEMYDGP
DSLAPILGRFCGSKKPDPTVASGSSMFLRFYSDASVQRKGFQAVHSTECGGRLKAEVQTK
ELYSHAQFGDNNYPSEARCDWVIVAEDGYGVELTFRTFEVEEEADCGYDYMEAYDGYDSS
APRLGRFCGSGPLEEIYSAGDSLMIRFRTDDTINKKGFHARYTSTKFQDALHMKK

Sequence length

1015

Interactions

View interactions

	Reactome
			Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation Crosslinking of collagen fibrils

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sellar metastasis from primary bronchial carcinoid tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	40158169	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysbiosis	Associate	36291689	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Associate	28796414	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Associate	31888525	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30770791, 33390848, 40158169	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Associate	36291689	★★★★★ ★☆☆☆☆ Found in Text Mining only

TLL2 (tolloid like 2)