Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10617
Gene name Gene Name - the full gene name approved by the HGNC.
STAM binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STAMBP
Synonyms (NCBI Gene) Gene synonyms aliases
AMSH, MICCAP
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606247 16950 ENSG00000124356
Protein
UniProt ID 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
ILYNKYITLFIEKLPKHRDYKSAVIPEKKDTVKKLKEIAFPKAEELKAELLKRYTKE
YTE
YNEEKKKEAEELARNMAIQQELEKEKQRVAQQKQQQLEQEQFHAFEEMIRNQELEKERLK
IVQEFGKVDPGLGGPLVPDLEKPSLDVFPTLTVSSIQPSDCHTTVRPAKPPVVDRSLKPG
ALSNSESIPTIDGLRHVVVPGRLCPQFLQLASANTARGVETCGILCGKLMRNEFTITHVL
IPKQSAGSDYCNTENEEELFLIQDQQGLITLGWIHTHPTQTAFLSSVDLHTHCSYQMMLP
E
SVAIVCSPKFQETGFFKLTDHGLEEISSCRQKGFHPHSKDPPLFCSCSHVTVVDRAVTI
TDLR
Sequence length 424
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis   Metalloprotease DUBs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly-Capillary Malformation Syndrome microcephaly-capillary malformation syndrome rs397509387, rs397509388, rs143739249, rs397509389, rs397509390, rs397514697, rs886037633, rs797046015, rs1553382055, rs766580482 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 35508649
Cartilage Diseases Associate 30721648
Dental Caries Associate 29859070
Epilepsy Post Traumatic Inhibit 38557165
Fibromyalgia Associate 35693781
Heart Failure Stimulate 16679696
Hyperphagia Associate 35737586
Inflammation Inhibit 14612916, 16679696
Inflammation Associate 35693781, 9077466
Melanoma Associate 14612916