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	10617
Gene name	STAM binding protein
Gene symbol	STAMBP
Synonyms (NCBI Gene)	AMSHMICCAP
Chromosome	2
Chromosome location	2p13.1
Summary	Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150593655	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs397509388	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs397509389	G>T	Likely-pathogenic, pathogenic	5 prime UTR variant, intron variant
rs397509390	C>G,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs397514697	T>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs766580482	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886037633	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1174684647	C>A,G,T	Likely-pathogenic	Synonymous variant, missense variant, 5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1553381934	TGATCCGGAACCAGGAGCTAGA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553382055	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant

263

Show/Hide all (263)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024178	hsa-miR-221-3p	Sequencing	20371350
MIRT027291	hsa-miR-101-3p	Sequencing	20371350
MIRT041004	hsa-miR-505-3p	CLASH	23622248
MIRT027291	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT553952	hsa-miR-6757-3p	PAR-CLIP	21572407
MIRT553951	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT120079	hsa-miR-6085	PAR-CLIP	21572407
MIRT120081	hsa-miR-6813-5p	PAR-CLIP	21572407
MIRT089438	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT089441	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT089437	hsa-miR-139-5p	PAR-CLIP	21572407
MIRT553950	hsa-miR-432-5p	PAR-CLIP	21572407
MIRT553949	hsa-miR-190a-5p	PAR-CLIP	21572407
MIRT553948	hsa-miR-190b	PAR-CLIP	21572407
MIRT120076	hsa-miR-548v	PAR-CLIP	21572407
MIRT120077	hsa-miR-4489	PAR-CLIP	21572407
MIRT553947	hsa-miR-2116-5p	PAR-CLIP	21572407
MIRT553946	hsa-miR-22-5p	PAR-CLIP	21572407
MIRT027291	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT089440	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT089444	hsa-miR-4273	PAR-CLIP	21572407
MIRT089448	hsa-miR-7156-5p	PAR-CLIP	21572407
MIRT089446	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT089447	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT449448	hsa-miR-5680	PAR-CLIP	22100165
MIRT089438	hsa-miR-218-2-3p	PAR-CLIP	22100165
MIRT449447	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT449446	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT449445	hsa-miR-206	PAR-CLIP	22100165
MIRT449444	hsa-miR-613	PAR-CLIP	22100165
MIRT449443	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT449442	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT449441	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT449440	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT449439	hsa-miR-6505-5p	PAR-CLIP	22100165
MIRT737436	hsa-miR-99a-3p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR	31795200
MIRT027291	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT553952	hsa-miR-6757-3p	PAR-CLIP	21572407
MIRT553951	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT120079	hsa-miR-6085	PAR-CLIP	21572407
MIRT120081	hsa-miR-6813-5p	PAR-CLIP	21572407
MIRT089438	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT089441	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT089437	hsa-miR-139-5p	PAR-CLIP	21572407
MIRT553950	hsa-miR-432-5p	PAR-CLIP	21572407
MIRT553949	hsa-miR-190a-5p	PAR-CLIP	21572407
MIRT553948	hsa-miR-190b	PAR-CLIP	21572407
MIRT120076	hsa-miR-548v	PAR-CLIP	21572407
MIRT120077	hsa-miR-4489	PAR-CLIP	21572407
MIRT553947	hsa-miR-2116-5p	PAR-CLIP	21572407
MIRT553946	hsa-miR-22-5p	PAR-CLIP	21572407
MIRT027291	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT089440	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT089444	hsa-miR-4273	PAR-CLIP	21572407
MIRT089448	hsa-miR-7156-5p	PAR-CLIP	21572407
MIRT089446	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT089447	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT449448	hsa-miR-5680	PAR-CLIP	22100165
MIRT089438	hsa-miR-218-2-3p	PAR-CLIP	22100165
MIRT449447	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT449446	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT449445	hsa-miR-206	PAR-CLIP	22100165
MIRT449444	hsa-miR-613	PAR-CLIP	22100165
MIRT449443	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT449442	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT449441	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT449440	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT449439	hsa-miR-6505-5p	PAR-CLIP	22100165
MIRT1394908	hsa-miR-105	CLIP-seq
MIRT1394909	hsa-miR-3144-3p	CLIP-seq
MIRT1394910	hsa-miR-3675-5p	CLIP-seq
MIRT1394911	hsa-miR-4528	CLIP-seq
MIRT1394912	hsa-miR-4639-3p	CLIP-seq
MIRT1394913	hsa-miR-4694-3p	CLIP-seq
MIRT1394914	hsa-miR-4714-5p	CLIP-seq
MIRT1394915	hsa-let-7a	CLIP-seq
MIRT1394916	hsa-let-7b	CLIP-seq
MIRT1394917	hsa-let-7c	CLIP-seq
MIRT1394918	hsa-let-7d	CLIP-seq
MIRT1394919	hsa-let-7e	CLIP-seq
MIRT1394920	hsa-let-7f	CLIP-seq
MIRT1394921	hsa-let-7g	CLIP-seq
MIRT1394922	hsa-let-7i	CLIP-seq
MIRT1394908	hsa-miR-105	CLIP-seq
MIRT1394923	hsa-miR-1200	CLIP-seq
MIRT1394924	hsa-miR-1263	CLIP-seq
MIRT1394925	hsa-miR-1269	CLIP-seq
MIRT1394926	hsa-miR-1269b	CLIP-seq
MIRT1394927	hsa-miR-1279	CLIP-seq
MIRT1394928	hsa-miR-1304	CLIP-seq
MIRT1394929	hsa-miR-136	CLIP-seq
MIRT1394930	hsa-miR-188-5p	CLIP-seq
MIRT1394931	hsa-miR-18a	CLIP-seq
MIRT1394932	hsa-miR-18b	CLIP-seq
MIRT1394933	hsa-miR-190	CLIP-seq
MIRT1394934	hsa-miR-202	CLIP-seq
MIRT1394935	hsa-miR-2116	CLIP-seq
MIRT1394936	hsa-miR-2117	CLIP-seq
MIRT1394937	hsa-miR-216a	CLIP-seq
MIRT1394938	hsa-miR-216b	CLIP-seq
MIRT1394939	hsa-miR-2276	CLIP-seq
MIRT1394940	hsa-miR-29a	CLIP-seq
MIRT1394941	hsa-miR-29b	CLIP-seq
MIRT1394942	hsa-miR-29c	CLIP-seq
MIRT1394943	hsa-miR-3065-3p	CLIP-seq
MIRT1394944	hsa-miR-3133	CLIP-seq
MIRT1394909	hsa-miR-3144-3p	CLIP-seq
MIRT1394945	hsa-miR-3152-3p	CLIP-seq
MIRT1394946	hsa-miR-3152-5p	CLIP-seq
MIRT1394947	hsa-miR-3202	CLIP-seq
MIRT1394948	hsa-miR-320a	CLIP-seq
MIRT1394949	hsa-miR-320b	CLIP-seq
MIRT1394950	hsa-miR-320c	CLIP-seq
MIRT1394951	hsa-miR-320d	CLIP-seq
MIRT1394952	hsa-miR-345	CLIP-seq
MIRT1394953	hsa-miR-3617	CLIP-seq
MIRT1394954	hsa-miR-362-5p	CLIP-seq
MIRT1394955	hsa-miR-3646	CLIP-seq
MIRT1394956	hsa-miR-3670	CLIP-seq
MIRT1394957	hsa-miR-3672	CLIP-seq
MIRT1394910	hsa-miR-3675-5p	CLIP-seq
MIRT1394958	hsa-miR-371-5p	CLIP-seq
MIRT1394959	hsa-miR-371b-5p	CLIP-seq
MIRT1394960	hsa-miR-3910	CLIP-seq
MIRT1394961	hsa-miR-3941	CLIP-seq
MIRT1394962	hsa-miR-4256	CLIP-seq
MIRT1394963	hsa-miR-432	CLIP-seq
MIRT1394964	hsa-miR-4429	CLIP-seq
MIRT1394965	hsa-miR-4438	CLIP-seq
MIRT1394966	hsa-miR-4458	CLIP-seq
MIRT1394967	hsa-miR-4500	CLIP-seq
MIRT1394968	hsa-miR-4504	CLIP-seq
MIRT1394911	hsa-miR-4528	CLIP-seq
MIRT1394969	hsa-miR-4529-3p	CLIP-seq
MIRT1394970	hsa-miR-4533	CLIP-seq
MIRT1394971	hsa-miR-4536	CLIP-seq
MIRT1394912	hsa-miR-4639-3p	CLIP-seq
MIRT1394972	hsa-miR-4652-3p	CLIP-seq
MIRT1394973	hsa-miR-4659a-5p	CLIP-seq
MIRT1394974	hsa-miR-4659b-5p	CLIP-seq
MIRT1394975	hsa-miR-466	CLIP-seq
MIRT1394976	hsa-miR-4662a-5p	CLIP-seq
MIRT1394977	hsa-miR-4672	CLIP-seq
MIRT1394978	hsa-miR-4677-3p	CLIP-seq
MIRT1394979	hsa-miR-4679	CLIP-seq
MIRT1394913	hsa-miR-4694-3p	CLIP-seq
MIRT1394980	hsa-miR-4708-3p	CLIP-seq
MIRT1394914	hsa-miR-4714-5p	CLIP-seq
MIRT1394981	hsa-miR-4716-5p	CLIP-seq
MIRT1394982	hsa-miR-4735-3p	CLIP-seq
MIRT1394983	hsa-miR-4753-3p	CLIP-seq
MIRT1394984	hsa-miR-4762-3p	CLIP-seq
MIRT1394985	hsa-miR-4764-5p	CLIP-seq
MIRT1394986	hsa-miR-4773	CLIP-seq
MIRT1394987	hsa-miR-4774-3p	CLIP-seq
MIRT1394988	hsa-miR-4776-3p	CLIP-seq
MIRT1394989	hsa-miR-4778-5p	CLIP-seq
MIRT1394990	hsa-miR-495	CLIP-seq
MIRT1394991	hsa-miR-500a	CLIP-seq
MIRT1394992	hsa-miR-500b	CLIP-seq
MIRT1394993	hsa-miR-502-5p	CLIP-seq
MIRT1394994	hsa-miR-513c	CLIP-seq
MIRT1394995	hsa-miR-514b-5p	CLIP-seq
MIRT1394996	hsa-miR-542-3p	CLIP-seq
MIRT1394997	hsa-miR-576-3p	CLIP-seq
MIRT1394998	hsa-miR-579	CLIP-seq
MIRT1394999	hsa-miR-584	CLIP-seq
MIRT1395000	hsa-miR-605	CLIP-seq
MIRT1395001	hsa-miR-616	CLIP-seq
MIRT1395002	hsa-miR-641	CLIP-seq
MIRT1395003	hsa-miR-802	CLIP-seq
MIRT1395004	hsa-miR-888	CLIP-seq
MIRT1395005	hsa-miR-98	CLIP-seq
MIRT2118519	hsa-miR-1185	CLIP-seq
MIRT2118520	hsa-miR-185	CLIP-seq
MIRT1394909	hsa-miR-3144-3p	CLIP-seq
MIRT2118521	hsa-miR-331-3p	CLIP-seq
MIRT1394910	hsa-miR-3675-5p	CLIP-seq
MIRT2118522	hsa-miR-3679-5p	CLIP-seq
MIRT2118523	hsa-miR-4254	CLIP-seq
MIRT2118524	hsa-miR-4306	CLIP-seq
MIRT2118525	hsa-miR-4308	CLIP-seq
MIRT1394911	hsa-miR-4528	CLIP-seq
MIRT2118526	hsa-miR-4644	CLIP-seq
MIRT1394994	hsa-miR-513c	CLIP-seq
MIRT1394995	hsa-miR-514b-5p	CLIP-seq
MIRT2118527	hsa-miR-9	CLIP-seq
MIRT2118528	hsa-miR-193a-5p	CLIP-seq
MIRT2340577	hsa-miR-103a	CLIP-seq
MIRT2340578	hsa-miR-107	CLIP-seq
MIRT2340579	hsa-miR-1184	CLIP-seq
MIRT2340580	hsa-miR-1285	CLIP-seq
MIRT2340581	hsa-miR-135a	CLIP-seq
MIRT2340582	hsa-miR-135b	CLIP-seq
MIRT2340583	hsa-miR-1587	CLIP-seq
MIRT2340584	hsa-miR-214	CLIP-seq
MIRT1394909	hsa-miR-3144-3p	CLIP-seq
MIRT2340585	hsa-miR-3187-5p	CLIP-seq
MIRT2340586	hsa-miR-3194-3p	CLIP-seq
MIRT2340587	hsa-miR-326	CLIP-seq
MIRT2340588	hsa-miR-330-5p	CLIP-seq
MIRT2340589	hsa-miR-3619-5p	CLIP-seq
MIRT2340590	hsa-miR-3652	CLIP-seq
MIRT1394910	hsa-miR-3675-5p	CLIP-seq
MIRT2340591	hsa-miR-378g	CLIP-seq
MIRT2340592	hsa-miR-4257	CLIP-seq
MIRT2340593	hsa-miR-4430	CLIP-seq
MIRT2340594	hsa-miR-4486	CLIP-seq
MIRT2340595	hsa-miR-4492	CLIP-seq
MIRT2340596	hsa-miR-4498	CLIP-seq
MIRT1394911	hsa-miR-4528	CLIP-seq
MIRT2340597	hsa-miR-4656	CLIP-seq
MIRT2340598	hsa-miR-4675	CLIP-seq
MIRT1394913	hsa-miR-4694-3p	CLIP-seq
MIRT2340599	hsa-miR-4741	CLIP-seq
MIRT2340600	hsa-miR-612	CLIP-seq
MIRT2340601	hsa-miR-761	CLIP-seq
MIRT2340602	hsa-miR-762	CLIP-seq
MIRT1394953	hsa-miR-3617	CLIP-seq
MIRT1395002	hsa-miR-641	CLIP-seq
MIRT1394933	hsa-miR-190	CLIP-seq
MIRT2395290	hsa-miR-342-5p	CLIP-seq
MIRT2340590	hsa-miR-3652	CLIP-seq
MIRT2340593	hsa-miR-4430	CLIP-seq
MIRT2395291	hsa-miR-4505	CLIP-seq
MIRT2395292	hsa-miR-4651	CLIP-seq
MIRT2395293	hsa-miR-4664-5p	CLIP-seq
MIRT1394999	hsa-miR-584	CLIP-seq
MIRT2395294	hsa-miR-608	CLIP-seq
MIRT1394924	hsa-miR-1263	CLIP-seq
MIRT2433623	hsa-miR-3126-3p	CLIP-seq
MIRT2433624	hsa-miR-4490	CLIP-seq
MIRT2433625	hsa-miR-4774-5p	CLIP-seq
MIRT1394999	hsa-miR-584	CLIP-seq
MIRT2460645	hsa-miR-1252	CLIP-seq
MIRT1394947	hsa-miR-3202	CLIP-seq
MIRT2460646	hsa-miR-4476	CLIP-seq
MIRT2634469	hsa-miR-128	CLIP-seq
MIRT2634470	hsa-miR-1287	CLIP-seq
MIRT2634471	hsa-miR-1299	CLIP-seq
MIRT2634472	hsa-miR-27a	CLIP-seq
MIRT2634473	hsa-miR-27b	CLIP-seq
MIRT2634474	hsa-miR-3135b	CLIP-seq
MIRT2340592	hsa-miR-4257	CLIP-seq
MIRT2634475	hsa-miR-4279	CLIP-seq
MIRT2634476	hsa-miR-4320	CLIP-seq
MIRT2634477	hsa-miR-4426	CLIP-seq
MIRT2634478	hsa-miR-4647	CLIP-seq
MIRT2634479	hsa-miR-4662b	CLIP-seq
MIRT2634480	hsa-miR-4691-5p	CLIP-seq
MIRT2634481	hsa-miR-4782-5p	CLIP-seq
MIRT2634482	hsa-miR-512-3p	CLIP-seq
MIRT2634483	hsa-miR-516b	CLIP-seq
MIRT2634469	hsa-miR-128	CLIP-seq
MIRT2634470	hsa-miR-1287	CLIP-seq
MIRT2634471	hsa-miR-1299	CLIP-seq
MIRT2634472	hsa-miR-27a	CLIP-seq
MIRT2634473	hsa-miR-27b	CLIP-seq
MIRT2634474	hsa-miR-3135b	CLIP-seq
MIRT2634476	hsa-miR-4320	CLIP-seq
MIRT2634481	hsa-miR-4782-5p	CLIP-seq
MIRT2634482	hsa-miR-512-3p	CLIP-seq
MIRT2634483	hsa-miR-516b	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	18388320
GO:0005515	Function	Protein binding	IPI	10383417, 11483516, 14755250, 16189514, 16730941, 17078930, 17146056, 17711858, 19060904, 19615732, 20936779, 21706016, 21827950, 21988832, 25416956, 27725184, 28514442, 29997244, 31515488, 32296183, 32814053, 33961781, 35452674
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10383417
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	TAS	10383417
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	10383417
GO:0016020	Component	Membrane	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	18388320
GO:0016787	Function	Hydrolase activity	IEA
GO:0019904	Function	Protein domain specific binding	IPI	18395747
GO:0032154	Component	Cleavage furrow	IBA
GO:0032154	Component	Cleavage furrow	IDA	18388320
GO:0032154	Component	Cleavage furrow	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IBA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IMP	23542699
GO:0046872	Function	Metal ion binding	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	23542699
GO:0061578	Function	K63-linked deubiquitinase activity	IBA
GO:0061578	Function	K63-linked deubiquitinase activity	IDA	34425109
GO:0061578	Function	K63-linked deubiquitinase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070536	Process	Protein K63-linked deubiquitination	IEA
GO:0101005	Function	Deubiquitinase activity	IDA	18388320
GO:0110088	Process	Hippocampal neuron apoptotic process	IEA
GO:0110091	Process	Negative regulation of hippocampal neuron apoptotic process	IEA
GO:0140492	Function	Metal-dependent deubiquitinase activity	IEA

MIM	HGNC	e!Ensembl
606247	16950	ENSG00000124356

O95630

Protein name

STAM-binding protein (EC 3.4.19.-) (Associated molecule with the SH3 domain of STAM) (Endosome-associated ubiquitin isopeptidase)

Protein function

Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:15314065, PubMed:23542699, PubMed:34425109). Does not cleave 'Lys-48'-linked polyubiquitin chains (PubMed:15314065). Plays a role in signal transduction

PDB

2XZE , 3RZU , 3RZV , 5IXF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08969	USP8_dimer	8 → 117	USP8 dimerisation domain	Domain
PF01398	JAB	252 → 361	JAB1/Mov34/MPN/PAD-1 ubiquitin protease	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10383417}.

Sequence

MSDHGDVSLPPEDRVRALSQLGSAVEVNEDIPPRRYFRSGVEIIRMASIYSEEGNIEHAF
ILYNKYITLFIEKLPKHRDYKSAVIPEKKDTVKKLKEIAFPKAEELKAELLKRYTKEYTE
YNEEKKKEAEELARNMAIQQELEKEKQRVAQQKQQQLEQEQFHAFEEMIRNQELEKERLK
IVQEFGKVDPGLGGPLVPDLEKPSLDVFPTLTVSSIQPSDCHTTVRPAKPPVVDRSLKPG
ALSNSESIPTIDGLRHVVVPGRLCPQFLQLASANTARGVETCGILCGKLMRNEFTITHVL
IPKQSAGSDYCNTENEEELFLIQDQQGLITLGWIHTHPTQTAFLSSVDLHTHCSYQMMLP
ESVAIVCSPKFQETGFFKLTDHGLEEISSCRQKGFHPHSKDPPLFCSCSHVTVVDRAVTI
TDLR

Sequence length

424

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		Metalloprotease DUBs

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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly-capillary malformation syndrome	Pathogenic; Likely pathogenic	rs771150854, rs797046015, rs2466263741, rs2466756415, rs1553382055, rs766580482, rs397509387, rs397509388, rs143739249, rs397509389, rs397509390, rs397514697, rs886037633	RCV001336969 RCV000192826 RCV003404810 RCV003489477 RCV000503679 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs397509389	RCV005890333	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STAMBP-related disorder	Likely pathogenic	rs150593655	RCV003392315	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	BEFREE	25692795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	25692795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	BEFREE	25692795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Capillary Malformation Without Arteriovenous Malformation	Capillary Malformation Without Arteriovenous Malformation	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35508649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	30721648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	29859070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	23542699		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	23542699		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	31638258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	16679696	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30454887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	14612916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30454887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	23542699		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	31638258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome	BEFREE	23542699, 27531570, 29907875, 30454887, 31638258		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome	CLINVAR_DG	23542699, 29907875		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome	UNIPROT_DG	23542699		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome	GENOMICS_ENGLAND_DG	23542699, 25692795		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome	ORPHANET_DG	23542699		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microlissencephaly	Microlissencephaly	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35737586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30721648	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	30721648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	23542699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31795200, 37986681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31795200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36434041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	23542699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

STAMBP (STAM binding protein)