Gene Gene information from NCBI Gene database.
Entrez ID 23677
Gene name SH3 domain binding protein 4
Gene symbol SH3BP4
Synonyms (NCBI Gene)
BOG25TTP
Chromosome 2
Chromosome location 2q37.2
Summary This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, speci
miRNA miRNA information provided by mirtarbase database.
488
miRTarBase ID miRNA Experiments Reference
MIRT001502 hsa-miR-155-5p pSILAC 18668040
MIRT019958 hsa-miR-375 Microarray 20215506
MIRT001502 hsa-miR-155-5p Proteomics;Other 18668040
MIRT024783 hsa-miR-215-5p Microarray 19074876
MIRT025843 hsa-miR-7-5p Microarray 19073608
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005092 Function GDP-dissociation inhibitor activity IMP 22575674
GO:0005515 Function Protein binding IPI 15161933, 16325581, 18654987, 20936779, 28514442, 29467281, 30842330, 33961781, 35044719, 35156780, 35271311, 36012204, 36931259
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 22575674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605611 10826 ENSG00000130147
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0V3
Protein name SH3 domain-binding protein 4 (EH-binding protein 10) (Transferrin receptor-trafficking protein)
Protein function May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1 61 106 SH3 domain Domain
PF00791 ZU5 318 410 ZU5 domain Family
PF07653 SH3_2 658 722 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested with higher expression in pancreas. Expressed by retinal pigment epithelial cells (at protein level). {ECO:0000269|PubMed:10644451, ECO:0000269|PubMed:15616480}.
Sequence
MAAQRIRAANSNGLPRCKSEGTLIDLSEGFSETSFNDIKVPSPSALLVDNPTPFGNAKEV
IAIKDYCPTNFTTLKFSKGDHLYVLDTSGGEWWYAHNTTEMGYIPSSYVQPLNYRNSTLS
DSGMIDNLPDSPDEVAKELELLGGWTDDKKVPGRMYSNNPFWNGVQTNPFLNGNVPVMPS
LDELNPKSTVDLLLFDAGTSSFTESSSATTNSTGNIFDELPVTNGLHAEPPVRRDNPFFR
SKRSYSLSELSVLQAKSDAPTSSSFFTGLKSPAPEQFQSREDFRTAWLNHRKLARSCHDL
DLLGQSPGWGQTQAVETNIVCKLDSSGGAVQLPDTSISIHVPEGHVAPGETQQISMKALL
DPPLELNSDRSCSISPVLEVKLSNLEVKTSIILEMKVSAEIKNDLFSKST
VGLQCLRSDS
KEGPYVSVPLNCSCGDTVQAQLHNLEPCMYVAVVAHGPSILYPSTVWDFINKKVTVGLYG
PKHIHPSFKTVVTIFGHDCAPKTLLVSEVTRQAPNPAPVALQLWGKHQFVLSRPQDLKVC
MFSNMTNYEVKASEQAKVVRGFQLKLGKVSRLIFPITSQNPNELSDFTLRVQVKDDQEAI
LTQFCVQTPQPPPKSAIKPSGQRRFLKKNEVGKIILSPFATTTKYPTFQDRPVSSLKFGK
LLKTVVRQNKNHYLLEYKKGDGIALLSEERVRLRGQLWTKEWYIGYYQGRVGLVHTKNVL
VV
GRARPSLCSGPELSTSVLLEQILRPCKFLTYIYASVRTLLMENISSWRSFADALGYVN
LPLTFFCRAELDSEPERVASVLEKLKEDCNNTENKERKSFQKELVMALLKMDCQGLVVRL
IQDFVLLTTAVEVAQRWRELAEKLAKVSKQQMDAYESPHRDRNGVVDSEAMWKPAYDFLL
TWSHQIGDSYRDVIQELHLGLDKMKNPITKRWKHLTGTLILVNSLDVLRAAAFSPADQDD
FVI
Sequence length 963
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANTIPHOSPHOLIPID SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 7506373
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25541715
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19697322, 30811977
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37848535 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 16546352, 28570274
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 29043400
★☆☆☆☆
Found in Text Mining only
Ataxia with vitamin E deficiency Ataxia with vitamin e deficiency Pubtator 16430203 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia with vitamin E deficiency Friedreich Ataxia BEFREE 16819822, 20464573, 23077608
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 30472483
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 14727261, 22491258
★☆☆☆☆
Found in Text Mining only