Gene Gene information from NCBI Gene database.
Entrez ID 140766
Gene name ADAM metallopeptidase with thrombospondin type 1 motif 14
Gene symbol ADAMTS14
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q22.1
Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin
miRNA miRNA information provided by mirtarbase database.
95
miRTarBase ID miRNA Experiments Reference
MIRT496781 hsa-miR-4667-5p PAR-CLIP 22291592
MIRT496780 hsa-miR-4700-5p PAR-CLIP 22291592
MIRT496779 hsa-miR-8089 PAR-CLIP 22291592
MIRT496778 hsa-miR-637 PAR-CLIP 22291592
MIRT496777 hsa-miR-7155-5p PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607506 14899 ENSG00000138316
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WXS8
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 14 (ADAM-TS 14) (ADAM-TS14) (ADAMTS-14) (EC 3.4.24.-)
Protein function Has aminoprocollagen type I processing activity in the absence of ADAMTS2 (PubMed:11741898). Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity (PubMed:11741898). Cleaves lysyl oxid
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 39 207 Reprolysin family propeptide Family
PF01421 Reprolysin 259 460 Reprolysin (M12B) family zinc metalloprotease Domain
PF17771 ADAM_CR_2 472 541 ADAM cysteine-rich domain Domain
PF00090 TSP_1 556 606 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 714 829 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 851 906 Domain
PF19030 TSP1_ADAMTS 911 968 Domain
PF19030 TSP1_ADAMTS 972 1021 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in retina and at low levels in brain, lung and placenta (PubMed:11779638). High expression in fetal tissues (PubMed:11867212). {ECO:0000269|PubMed:11779638, ECO:0000269|PubMed:11867212}.
Sequence
MAPLRALLSYLLPLHCALCAAAGSRTPELHLSGKLSDYGVTVPCSTDFRGRFLSHVVSGP
AAASAGSMVVDTPPTLPRHSSHLRVARSPLHPGGTLWPGRVGRHSLYFNVTVFGKELHLR
LRPNRRLVVPGSSVEWQEDFRELFRQPLRQECVYTGGVTGMPGAAVAISNCDGLAGLIRT
DSTDFFIEPLERGQQEKEASGRTHVVY
RREAVQQEWAEPDGDLHNEAFGLGDLPNLLGLV
GDQLGDTERKRRHAKPGSYSIEVLLVVDDSVVRFHGKEHVQNYVLTLMNIVDEIYHDESL
GVHINIALVRLIMVGYRQSLSLIERGNPSRSLEQVCRWAHSQQRQDPSHAEHHDHVVFLT
RQDFGPSGYAPVTGMCHPLRSCALNHEDGFSSAFVIAHETGHVLGMEHDGQGNGCADETS
LGSVMAPLVQAAFHRFHWSRCSKLELSRYLPSYDCLLDDP
FDPAWPQPPELPGINYSMDE
QCRFDFGSGYQTCLAFRTFEPCKQLWCSHPDNPYFCKTKKGPPLDGTECAPGKWCFKGHC
I
WKSPEQTYGQDGGWSSWTKFGSCSRSCGGGVRSRSRSCNNPSPAYGGRLCLGPMFEYQV
CNSEEC
PGTYEDFRAQQCAKRNSYYVHQNAKHSWVPYEPDDDAQKCELICQSADTGDVVF
MNQVVHDGTRCSYRDPYSVCARGECVPVGCDKEVGSMKADDKCGVCGGDNSHCRTVKGTL
GKASKQAGALKLVQIPAGARHIQIEALEKSPHRIVVKNQVTGSFILNPKGKEATSRTFTA
MGLEWEDAVEDAKESLKTSGPLPEAIAILALPPTEGGPRSSLAYKYVIH
EDLLPLIGSNN
VLLEEMDTYEWALKSWAPCSKACGGGIQFTKYGCRRRRDHHMVQRHLCDHKKRPKPIRRR
CNQHPC
SQPVWVTEEWGACSRSCGKLGVQTRGIQCLLPLSNGTHKVMPAKACAGDRPEAR
RPCLRVPC
PAQWRLGAWSQCSATCGEGIQQRQVVCRTNANSLGHCEGDRPDTVQVCSLPA
C
GGNHQNSTVRADVWELGTPEGQWVPQSEPLHPINKISSTEPCTGDRSVFCQMEVLDRYC
SIPGYHRLCCVSCIKKASGPNPGPDPGPTSLPPFSTPGSPLPGPQDPADAAEPPGKPTGS
EDHQHGRATQLPGALDTSSPGTQHPFAPETPIPGASWSISPTTPGGLPWGWTQTPTPVPE
DKGQPGEDLRHPGTSLPAASPVT
Sequence length 1223
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Collagen biosynthesis and modifying enzymes
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis Pubtator 27463966 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 22694930
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 27463966 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27463966, 28231306 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28231306 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 25638164
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25638164 Associate
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 14730609, 18790654, 24301791
★☆☆☆☆
Found in Text Mining only
Dupuytren Contracture Dupuytren contracture Pubtator 17336841 Associate
★☆☆☆☆
Found in Text Mining only
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Dermatosparaxis Ehlers-Danlos Syndrome BEFREE 16556917
★☆☆☆☆
Found in Text Mining only