ADAMTSL4 (ADAMTS like 4)

Gene

• Entrez ID: 54507
• Gene name: ADAMTS like 4
• Gene symbol: ADAMTSL4
• Synonyms (NCBI Gene): ADAMTSL-4, ECTOL2, TSRC1
• Chromosome: 1
• Chromosome location: 1q21.2
• Summary: This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with divers

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs781691587	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023704	hsa-miR-1-3p	Microarray	18668037
MIRT766873	hsa-miR-34a	CLIP-seq
MIRT766874	hsa-miR-34c-5p	CLIP-seq
MIRT766875	hsa-miR-449a	CLIP-seq
MIRT766876	hsa-miR-449b	CLIP-seq
MIRT1925929	hsa-miR-1827	CLIP-seq
MIRT1925930	hsa-miR-4753-3p	CLIP-seq
MIRT766873	hsa-miR-34a	CLIP-seq
MIRT766874	hsa-miR-34c-5p	CLIP-seq
MIRT766875	hsa-miR-449a	CLIP-seq
MIRT766876	hsa-miR-449b	CLIP-seq
MIRT2674508	hsa-miR-1207-5p	CLIP-seq
MIRT2674509	hsa-miR-1321	CLIP-seq
MIRT1925929	hsa-miR-1827	CLIP-seq
MIRT2674510	hsa-miR-1909	CLIP-seq
MIRT2674511	hsa-miR-3162-5p	CLIP-seq
MIRT2674512	hsa-miR-3612	CLIP-seq
MIRT2674513	hsa-miR-4688	CLIP-seq
MIRT2674514	hsa-miR-4739	CLIP-seq
MIRT2674515	hsa-miR-4756-5p	CLIP-seq
MIRT2674516	hsa-miR-4763-3p	CLIP-seq
MIRT2674517	hsa-miR-650	CLIP-seq
MIRT2674518	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	16364318
GO:0002064	Process	Epithelial cell development	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16364318, 19060904, 23088713, 24722188, 25416956, 25910212, 26871637, 29758265, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005614	Component	Interstitial matrix	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031012	Component	Extracellular matrix	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043065	Process	Positive regulation of apoptotic process	IDA	16364318
GO:0070285	Process	Pigment cell development	IEA

Other IDs

• MIM: 610113
• HGNC: 19706
• e!Ensembl: ENSG00000143382

Protein

• UniProt ID: Q6UY14
• Protein name: ADAMTS-like protein 4 (ADAMTSL-4) (Thrombospondin repeat-containing protein 1)
• Protein function: Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00090	TSP_1	48 → 82	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	485 → 600	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	727 → 783		Domain
  PF19030	TSP1_ADAMTS	786 → 841		Domain
  PF19030	TSP1_ADAMTS	845 → 908		Domain
  PF19030	TSP1_ADAMTS	914 → 970		Domain
  PF19030	TSP1_ADAMTS	974 → 1025		Domain
  PF08686	PLAC	1033 → 1063	PLAC (protease and lacunin) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart
• Sequence:

  MENWTGRPWLYLLLLLSLPQLCLDQEVLSGHSLQTPTEEGQGPEGVWGPWVQWASCSQPC
  GVGVQRRSRTCQLPTVQLHPSLPLPPRPPRHPEALLPRGQGPRPQTSPETLPLYRTQSRG
  RGGPLRGPASHLGREETQEIRAARRSRLRDPIKPGMFGYGRVPFALPLHRNRRHPRSPPR
  SELSLISSRGEEAIPSPTPRAEPFSANGSPQTELPPTELSVHTPSPQAEPLSPETAQTEV
  APRTRPAPLRHHPRAQASGTEPPSPTHSLGEGGFFRASPQPRRPSSQGWASPQVAGRRPD
  PFPSVPRGRGQQGQGPWGTGGTPHGPRLEPDPQHPGAWLPLLSNGPHASSLWSLFAPSSP
  IPRCSGESEQLRACSQAPCPPEQPDPRALQCAAFNSQEFMGQLYQWEPFTEVQGSQRCEL
  NCRPRGFRFYVRHTEKVQDGTLCQPGAPDICVAGRCLSPGCDGILGSGRRPDGCGVCGGD
  DSTCRLVSGNLTDRGGPLGYQKILWIPAGALRLQIAQLRPSSNYLALRGPGGRSIINGNW
  AVDPPGSYRAGGTVFRYNRPPREEGKGESLSAEGPTTQPVDVYMIFQEENPGVFYQYVIS
  SPPPILENPTPEPPVPQLQPEILRVEPPLAPAPRPARTPGTLQRQVRIPQMPAPPHPRTP
  LGSPAAYWKRVGHSACSASCGKGVWRPIFLCISRESGEELDERSCAAGARPPASPEPCHG
  TPCPPYWEAGEWTSCSRSCGPGTQHRQLQCRQEFGGGGSSVPPERCGHLPRPNITQSCQL
  RLCGHWEVGSPWSQCSVRCGRGQRSRQVRCVGNNGDEVSEQECASGPPQPPSREACDMGP
  CTTAWFHSDWSSKCSAECGTGIQRRSVVCLGSGAALGPGQGEAGAGTGQSCPTGSRPPDM
  RACSLGPCERTWRWYTGPWGECSSECGSGTQRRDIICVSKLGTEFNVTSPSNCSHLPRPP
  ALQPCQGQACQDRWFSTPWSPCSRSCQGGTQTREVQCLSTNQTLSTRCPPQLRPSRKRPC
  NSQPCSQRPDDQCKDSSPHCPLVVQARLCVYPYYTATCCRSCAHVLERSPQDPS

• Sequence length: 1074

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Ectopia lentis	ectopia lentis 2, isolated, autosomal recessive	rs781691587, rs794726688, rs368482584, rs794726689, rs747160538, rs118203985, rs587776927, rs757318536, rs199473693	N/A
Ectopia Lentis	Ectopia lentis et pupillae, ectopia lentis	rs781691587, rs199473693, rs794726688, rs368482584, rs747160538, rs757318536	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
craniosynostosis syndrome	Craniosynostosis syndrome	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Isolated Ectopia Lentis	isolated ectopia lentis	N/A	N/A	GenCC
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Burkitt Lymphoma	Associate	36354023
Coronary Artery Dissection Spontaneous	Associate	36103205
Ectopia Lentis	Associate	19200529, 25053872, 37107549
Glioblastoma	Associate	30728876
Loeys Dietz Syndrome	Associate	36103205
Lymphatic Metastasis	Associate	28107202
Microspherophakia	Associate	40025527
Myopia	Associate	29346494
Nasopharyngeal Carcinoma	Associate	28107202
Neoplasm Metastasis	Associate	28107202
Neoplasms	Associate	28107202, 30728876, 36761753
Nonsyndromic Deafness	Associate	29346494
Tertiary Lymphoid Structures	Associate	28107202
Weill Marchesani Syndrome	Associate	25053872