SBF2
entrez
81846
canonical
uniprot
Q86WG5
canonical
ensembl
ENSG00000133812
resolver
ensp
ENSP00000256190
resolver
ensp
ENSP00000502578
resolver
ensp
ENSP00000509247
resolver
ensp
ENSP00000509545
resolver
ensp
ENSP00000509587
resolver
enst
ENST00000676324
resolver
enst
ENST00000689128
resolver
enst
ENST00000692716
resolver
genesymbol
SBF2
resolver
genesymbol_syn
CMT4B2
resolver
genesymbol_syn
KIAA1766
resolver
genesymbol_syn
MTMR13
resolver
hgnc
HGNC:2135
resolver
uniprot
A0A6Q8PH87
resolver
uniprot
A0A8I5KQ02
resolver
uniprot
A0A8I5KY55
resolver
uniprot
Q3MJF0
resolver
uniprot
Q68DQ3
resolver
uniprot
Q6P459
resolver
uniprot
Q6PJD1
resolver
uniprot
Q7Z325
resolver
uniprot
Q7Z621
resolver
uniprot
Q86VE2
resolver
uniprot
Q96FE2
resolver
uniprot
Q9C097
resolver
uniprot_entry
A0A6Q8PH87_HUMAN
resolver
uniprot_entry
A0A8I5KQ02_HUMAN
resolver
uniprot_entry
A0A8I5KY55_HUMAN
resolver
uniprot_entry
MTMRD_HUMAN
resolver
uniprot_sec
Q3MJF0
resolver
uniprot_sec
Q68DQ3
resolver
uniprot_sec
Q6P459
resolver
uniprot_sec
Q6PJD1
resolver
uniprot_sec
Q7Z325
resolver
uniprot_sec
Q7Z621
resolver
uniprot_sec
Q86VE2
resolver
uniprot_sec
Q96FE2
resolver
uniprot_sec
Q9C097
resolver
amino_acid_sequence
MARLADYFIVVGYDHEKPGSGEGLGKIIQRFPQKDWDDTPFPQGIELFCQPGGWQLSRERKQPTFFVVVLTDIDSDRHYCSCLTFYEAEINLQGTKKEEIEGEAKVSGLIQPAEVFAPKSLVLVSRLYYPEIFRACLGLIYTVYVDSLNVSLESLIANLCACLVPAAGGSQKLFSLGAGDRQLIQTPLHDSLPITGTSVALLFQQLGIQNVLSLFCAVLTENKVLFHSASFQRLSDACRALESLMFPLKYSYPYIPILPAQLLEVLSSPTPFIIGVHSVFKTDVHELLDVIIADLDGGTIKIPECIHLSSLPEPLLHQTQSALSLILHPDLEVADHAFPPPRTALSHSKMLDKEVRAVFLRLFAQLFQGYRSCLQLIRIHAEPVIHFHKTAFLGQRGLVENDFLTKVLSGMAFAGFVSERGPPYRSCDLFDELVAFEVERIKVEENNPVKMIKHVRELAEQLFKNENPNPHMAFQKVPRPTEGSHLRVHILPFPEINEARVQELIQENVAKNQNAPPATRIEKKCVVPAGPPVVSIMDKVTTVFNSAQRLEVVRNCISFIFENKILETEKTLPAALRALKGKAARQCLTDELGLHVQQNRAILDHQQFDYIIRMMNCTLQDCSSLEEYNIAAALLPLTSAFYRKLAPGVSQFAYTCVQDHPIWTNQQFWETTFYNAVQEQVRSLYLSAKEDNHAPHLKQKDKLPDDHYQEKTAMDLAAEQLRLWPTLSKSTQQELVQHEESTVFSQAIHFANLMVNLLVPLDTSKNKLLRTSAPGDWESGSNSIVTNSIAGSVAESYDTESGFEDSENTDIANSVVRFITRFIDKVCTESGVTQDHIKSLHCMIPGIVAMHIETLEAVHRESRRLPPIQKPKILRPALLPGEEIVCEGLRVLLDPDGREEATGGLLGGPQLLPAEGALFLTTYRILFRGTPHDQLVGEQTVVRSFPIASITKEKKITMQNQLQQNMQEGLQITSASFQLIKVAFDEEVSPEVVEIFKKQLMKFRYPQSIFSTFAFAAGQTTPQIILPKQKEKNTSFRTFSKTIVKGAKRAGKMTIGRQYLLKKKTGTIVEERVNRPGWNEDDDVSVSDESELPTSTTLKASEKSTMEQLVEKACFRDYQRLGLGTISGSSSRSRPEYFRITASNRMYSLCRSYPGLLVVPQAVQDSSLPRVARCYRHNRLPVVCWKNSRSGTLLLRSGGFHGKGVVGLFKSQNSPQAAPTSSLESSSSIEQEKYLQALLNAVSVHQKLRGNSTLTVRPAFALSPGVWASLRSSTRLISSPTSFIDVGARLAGKDHSASFSNSSYLQNQLLKRQAALYIFGEKSQLRNFKVEFALNCEFVPVEFHEIRQVKASFKKLMRACIPSTIPTDSEVTFLKALGDSEWFPQLHRIMQLAVVVSEVLENGSSVLVCLEEGWDITAQVTSLVQLLSDPFYRTLEGFQMLVEKEWLSFGHKFSQRSSLTLNCQGSGFAPVFLQFLDCVHQVHNQYPTEFEFNLYYLKFLAFHYVSNRFKTFLLDSDYERLEHGTLFDDKGEKHAKKGVCIWECIDRMHKRSPIFFNYLYSPLEIEALKPNVNVSSLKKWDYYIEETLSTGPSYDWMMLTPKHFPSEDSDLAGEAGPRSQRRTVWPCYDDVSCTQPDALTSLFSEIEKLEHKLNQAPEKWQQLWERVTVDLKEEPRTDRSQRHLSRSPGIVSTNLPSYQKRSLLHLPDSSMGEEQNSSISPSNGVERRAATLYSQYTSKNDENRSFEGTLYKRGALLKGWKPRWFVLDVTKHQLRYYDSGEDTSCKGHIDLAEVEMVIPAGPSMGAPKHTSDKAFFDLKTSKRVYNFCAQDGQSAQQWMDKIQSCISDA
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 4B2 (CMT4B2) [MIM:604563]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269|PubMed:12554688, ECO:0000269|PubMed:12687498, ECO:0000269|PubMed:15304601, ECO:0000269|PubMed:15477569}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity). {ECO:0000250|UniProtKB:E9PXF8, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:25648148}.
uniprot
proteins
mass_dalton
208464
uniprot
proteins
protein_family
Non-receptor class myotubularin subfamily
uniprot
proteins
protein_family
Protein-tyrosine phosphatase family
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
12554688
uniprot
proteins
pubmed
12687498
uniprot
proteins
pubmed
15304601
uniprot
proteins
pubmed
15477569
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15998640
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20937701
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25648148
uniprot
proteins
pubmed
34718573
uniprot
proteins
sequence_length
1849
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15998640}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:E9PXF8}. Membrane {ECO:0000269|PubMed:15998640}; Peripheral membrane protein {ECO:0000269|PubMed:15998640}. Endosome membrane {ECO:0000250|UniProtKB:E9PXF8}; Peripheral membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:E9PXF8}. Note=Associated with membranes (PubMed:15998640). Localizes to vacuoles in hypo-osmotic conditions (By similarity). Membrane localization is likely to be mediated via its interaction with MTMR2 (By similarity). {ECO:0000250|UniProtKB:E9PXF8, ECO:0000269|PubMed:15998640}.
uniprot
proteins