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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54507
Gene name	ADAMTS like 4
Gene symbol	ADAMTSL4
Synonyms (NCBI Gene)	ADAMTSL-4ECTOL2TSRC1
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

Show/Hide all (1)

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

Show/Hide all (23)

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

Show/Hide all (14)

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

MIM	HGNC	e!Ensembl
610113	19706	ENSG00000143382

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

Interactions

View interactions

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

452

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ADAMTSL4-related disorder	Pathogenic; Likely pathogenic	rs748115277, rs1461665171, rs746118823	RCV005057283 RCV004749770 RCV003418950 RCV003427939
Craniosynostosis with ectopia lentis	Likely pathogenic; Pathogenic	rs747160538, rs1364255987, rs755516700, rs199473693	RCV004594589 RCV002243462 RCV004594817 RCV002243679
Ectopia lentis	Pathogenic	rs199473693	RCV000844602
Ectopia lentis 2, isolated, autosomal recessive	Likely pathogenic; Pathogenic	rs747160538, rs1461665171, rs757032537, rs2101584597, rs118203985, rs2101584216, rs763535661, rs199530808, rs2526788248, rs755516700, rs2526708427, rs757318536, rs781691587, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689 View all (3 more)	RCV005040376 RCV003339791 RCV002290795 RCV002053867 RCV000001414 RCV002249229 RCV002272647 RCV005036850 RCV005036923 RCV005356509 RCV004595360 RCV003338592 RCV002506033 RCV000032752 RCV000032754 RCV000032755 RCV000032757 RCV000032758 RCV002466415
Ectopia lentis et pupillae	Pathogenic; Likely pathogenic	rs1672096009, rs747160538, rs1461665171, rs754966903, rs757032537, rs2101584597, rs768395332, rs199530808, rs2526788248, rs755516700, rs757318536, rs781691587, rs199473693, rs794726688, rs368482584	RCV001533172 RCV005040376 RCV003147695 RCV002293543 RCV003339803 RCV002053867 RCV005406489 RCV005036850 RCV005036923 RCV005356509 RCV003338593 RCV002293436 RCV000032753 RCV000032756 RCV001281006 RCV000032759
Isolated ectopia lentis	Likely pathogenic; Pathogenic	rs754125407, rs2526718012	RCV001449734 RCV004018319
See cases	Likely pathogenic; Pathogenic	rs1461665171, rs2526780892	RCV003334402 RCV003334437

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs12119250, rs41317525	RCV005914875 RCV005891480
Cholangiocarcinoma	Benign	rs12119250	RCV005914882
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs41317525	RCV005891482
Colorectal cancer	Conflicting classifications of pathogenicity	rs41317525	RCV005891483
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	rs748487774	RCV000985268
Familial pancreatic carcinoma	Benign	rs12119250	RCV005914876
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs12119250, rs1488104169, rs41317525	RCV005914878 RCV005926794 RCV005891485
Lung cancer	Conflicting classifications of pathogenicity	rs41317525	RCV005891487
Lymphoma	Benign	rs12119250	RCV005914879
Malignant tumor of esophagus	Uncertain significance; Conflicting classifications of pathogenicity	rs141413572, rs41317525	RCV005925691 RCV005891481
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs145639662	RCV005913669
Nonpapillary renal cell carcinoma	Uncertain significance	rs763764814	RCV005930323
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs587593757, rs751424524, rs41317525	RCV005930471 RCV005928364 RCV005891486
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs12119250, rs41317525	RCV005914877 RCV005891484
Thymoma	Benign	rs12119250	RCV005914881
Uterine carcinosarcoma	Benign	rs12119250	RCV005914880
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs41317525	RCV005891488

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

ADAMTSL4 (ADAMTS like 4)