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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11085
Gene name Gene Name - the full gene name approved by the HGNC.	ADAM metallopeptidase domain 30
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADAM30
Synonyms (NCBI Gene) Gene synonyms aliases	svph4
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes

Show/Hide all(28)

miRTarBase ID	miRNA	Experiments
MIRT766148	hsa-miR-1321	CLIP-seq
MIRT766149	hsa-miR-1827	CLIP-seq
MIRT766150	hsa-miR-23a	CLIP-seq
MIRT766151	hsa-miR-23b	CLIP-seq
MIRT766152	hsa-miR-23c	CLIP-seq
MIRT766153	hsa-miR-2467-3p	CLIP-seq
MIRT766154	hsa-miR-3126-5p	CLIP-seq
MIRT766155	hsa-miR-3166	CLIP-seq
MIRT766156	hsa-miR-3612	CLIP-seq
MIRT766157	hsa-miR-4419a	CLIP-seq
MIRT766158	hsa-miR-4466	CLIP-seq
MIRT766159	hsa-miR-4510	CLIP-seq
MIRT766160	hsa-miR-4717-3p	CLIP-seq
MIRT766161	hsa-miR-4739	CLIP-seq
MIRT766162	hsa-miR-4756-5p	CLIP-seq
MIRT766163	hsa-miR-4802-3p	CLIP-seq
MIRT766164	hsa-miR-490-5p	CLIP-seq
MIRT766165	hsa-miR-650	CLIP-seq
MIRT766166	hsa-miR-675	CLIP-seq
MIRT766150	hsa-miR-23a	CLIP-seq
MIRT766151	hsa-miR-23b	CLIP-seq
MIRT766152	hsa-miR-23c	CLIP-seq
MIRT766158	hsa-miR-4466	CLIP-seq
MIRT766160	hsa-miR-4717-3p	CLIP-seq
MIRT766163	hsa-miR-4802-3p	CLIP-seq
MIRT766164	hsa-miR-490-5p	CLIP-seq
MIRT766166	hsa-miR-675	CLIP-seq
MIRT2167118	hsa-miR-764	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	27333034
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007339	Process	Binding of sperm to zona pellucida	TAS
GO:0008237	Function	Metallopeptidase activity	TAS	10512762
GO:0008270	Function	Zinc ion binding	TAS	10512762
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:1990913	Component	Sperm head plasma membrane	IEA

MIM	HGNC	e!Ensembl
604779	208	ENSG00000134249

Protein

UniProt ID

Q9UKF2

Protein name

Disintegrin and metalloproteinase domain-containing protein 30 (ADAM 30) (EC 3.4.24.-)

Protein function

Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01562	Pep_M12B_propep	30 → 160	Reprolysin family propeptide	Family
PF01421	Reprolysin	203 → 393	Reprolysin (M12B) family zinc metalloprotease	Domain
PF00200	Disintegrin	408 → 480	Disintegrin	Domain
PF08516	ADAM_CR	485 → 603	ADAM cysteine-rich	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain neurons (at protein level) (PubMed:27333034). Expressed in testis (PubMed:10512762). {ECO:0000269|PubMed:10512762, ECO:0000269|PubMed:27333034}.

Sequence

MRSVQIFLSQCRLLLLLVPTMLLKSLGEDVIFHPEGEFDSYEVTIPEKLSFRGEVQGVVS
PVSYLLQLKGKKHVLHLWPKRLLLPRHLRVFSFTEHGELLEDHPYIPKDCNYMGSVKESL
DSKATISTCMGGLRGVFNIDAKHYQIEPLKASPSFEHVVYLLKKEQFGNQVCGLSDDEIE
WQMAPYENKARLRDFPGSYKHPKYLELILLFDQSRYRFVNNNLSQVIHDAILLTGIMDTY
FQDVRMRIHLKALEVWTDFNKIRVGYPELAEVLGRFVIYKKSVLNARLSSDWAHLYLQRK
YNDALAWSFGKVCSLEYAGSVSTLLDTNILAPATWSAHELGHAVGMSHDEQYCQCRGRLN
CIMGSGRTGFSNCSYISFFKHISSGATCLNNIPGLGYVLKRCGNKIVEDNEECDCGSTEE
CQKDRCCQSNCKLQPGANCSIGLCCHDCRFRPSGYVCRQEGNECDLAEYCDGNSSSCPND
VYKQDGTPCKYEGRCFRKGCRSRYMQCQSIFGPDAMEAPSECYDAVNLIGDQFGNCEITG
IRNFKKCESANSICGRLQCINVETIPDLPEHTTIISTHLQAENLMCWGTGYHLSMKPMGI
PDLGMINDGTSCGEGRVCFKKNCVNSSVLQFDCLPEKCNTRGVCNNRKNCHCMYGWAPPF
CEEVGYGGSIDSGPPGLLRGAIPSSIWVVSIIMFRLILLILSVVFVFFRQVIGNHLKPKQ
EKMPLSKAKTEQEESKTKTVQEESKTKTGQEESEAKTGQEESKAKTGQEESKANIESKRP
KAKSVKKQKK

Sequence length

790

Interactions

View interactions

	Reactome
			Interaction With Cumulus Cells And The Zona Pellucida

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	References	Source
Unknown
Crohn disease	Crohn Disease		26192919	ClinVar
Crohn Disease	Crohn Disease			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Endometrial Neoplasms	Associate	36187339
Neoplasms	Associate	36187339

ADAM30 (ADAM metallopeptidase domain 30)