Property Summary

NCBI Gene PubMed Count 28
PubMed Score 25.31
PubTator Score 36.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
juvenile dermatomyositis 1189 4.34852869623333E-12
ovarian cancer 8492 1.03553623198852E-10
Breast cancer 3099 2.62902437144843E-8
tuberculosis and treatment for 3 months 327 3.73071484303234E-5
atypical teratoid / rhabdoid tumor 4369 7.25945305658434E-5
medulloblastoma, large-cell 6234 2.71087535699484E-4
invasive ductal carcinoma 2950 5.16053467128544E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 9.46618809866039E-4
primary pancreatic ductal adenocarcinoma 1271 0.00918056944572966
glioblastoma 5572 0.0121571242234533
medulloblastoma 1524 0.0164627186165108
ependymoma 2514 0.0210781917909439
oligodendroglioma 2849 0.0223028250729232
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
pancreatic cancer 2300 0.0 2.0
Disease Target Count Z-score Confidence
Centronuclear myopathy 21 4.796 2.4
Disease Target Count
Charcot-Marie-Tooth disease 4B2 1

Expression

Synonym

Accession Q86WG5 Q3MJF0 Q68DQ3 Q6P459 Q6PJD1 Q7Z325 Q7Z621 Q86VE2 Q96FE2 Q9C097
Symbols CMT4B2
MTMR13
DENND7B

Gene

PANTHER Protein Class (2)

  Ortholog (12)

Species Source
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG

Gene RIF (15)

PMID Text
25648148 Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.
25462154 SBF2 frameshift mutation is associated with charcot-marie-tooth disease type 4B2.
23334996 Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
23180869 Germline genetic variation in the SBF2 locus was associated with overall survival in patients with pancreatic adenocarcinoma of European and Asian ancestry.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19936222 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19039035 FLNB and SBF2 are associated with human stature.
18976975 Knockdown of SET binding factor 2 (SBF2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
18774718 A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex
18429927 REVIEW : MTMR13 and homologous proteins are mutated in several neuromuscular diseases
More...

AA Sequence

MARLADYFIVVGYDHEKPGSGEGLGKIIQRFPQKDWDDTPFPQGIELFCQPGGWQLSRERKQPTFFVVVL      1 - 70
TDIDSDRHYCSCLTFYEAEINLQGTKKEEIEGEAKVSGLIQPAEVFAPKSLVLVSRLYYPEIFRACLGLI     71 - 140
YTVYVDSLNVSLESLIANLCACLVPAAGGSQKLFSLGAGDRQLIQTPLHDSLPITGTSVALLFQQLGIQN    141 - 210
VLSLFCAVLTENKVLFHSASFQRLSDACRALESLMFPLKYSYPYIPILPAQLLEVLSSPTPFIIGVHSVF    211 - 280
KTDVHELLDVIIADLDGGTIKIPECIHLSSLPEPLLHQTQSALSLILHPDLEVADHAFPPPRTALSHSKM    281 - 350
LDKEVRAVFLRLFAQLFQGYRSCLQLIRIHAEPVIHFHKTAFLGQRGLVENDFLTKVLSGMAFAGFVSER    351 - 420
GPPYRSCDLFDELVAFEVERIKVEENNPVKMIKHVRELAEQLFKNENPNPHMAFQKVPRPTEGSHLRVHI    421 - 490
LPFPEINEARVQELIQENVAKNQNAPPATRIEKKCVVPAGPPVVSIMDKVTTVFNSAQRLEVVRNCISFI    491 - 560
FENKILETEKTLPAALRALKGKAARQCLTDELGLHVQQNRAILDHQQFDYIIRMMNCTLQDCSSLEEYNI    561 - 630
AAALLPLTSAFYRKLAPGVSQFAYTCVQDHPIWTNQQFWETTFYNAVQEQVRSLYLSAKEDNHAPHLKQK    631 - 700
DKLPDDHYQEKTAMDLAAEQLRLWPTLSKSTQQELVQHEESTVFSQAIHFANLMVNLLVPLDTSKNKLLR    701 - 770
TSAPGDWESGSNSIVTNSIAGSVAESYDTESGFEDSENTDIANSVVRFITRFIDKVCTESGVTQDHIKSL    771 - 840
HCMIPGIVAMHIETLEAVHRESRRLPPIQKPKILRPALLPGEEIVCEGLRVLLDPDGREEATGGLLGGPQ    841 - 910
LLPAEGALFLTTYRILFRGTPHDQLVGEQTVVRSFPIASITKEKKITMQNQLQQNMQEGLQITSASFQLI    911 - 980
KVAFDEEVSPEVVEIFKKQLMKFRYPQSIFSTFAFAAGQTTPQIILPKQKEKNTSFRTFSKTIVKGAKRA    981 - 1050
GKMTIGRQYLLKKKTGTIVEERVNRPGWNEDDDVSVSDESELPTSTTLKASEKSTMEQLVEKACFRDYQR   1051 - 1120
LGLGTISGSSSRSRPEYFRITASNRMYSLCRSYPGLLVVPQAVQDSSLPRVARCYRHNRLPVVCWKNSRS   1121 - 1190
GTLLLRSGGFHGKGVVGLFKSQNSPQAAPTSSLESSSSIEQEKYLQALLNAVSVHQKLRGNSTLTVRPAF   1191 - 1260
ALSPGVWASLRSSTRLISSPTSFIDVGARLAGKDHSASFSNSSYLQNQLLKRQAALYIFGEKSQLRNFKV   1261 - 1330
EFALNCEFVPVEFHEIRQVKASFKKLMRACIPSTIPTDSEVTFLKALGDSEWFPQLHRIMQLAVVVSEVL   1331 - 1400
ENGSSVLVCLEEGWDITAQVTSLVQLLSDPFYRTLEGFQMLVEKEWLSFGHKFSQRSSLTLNCQGSGFAP   1401 - 1470
VFLQFLDCVHQVHNQYPTEFEFNLYYLKFLAFHYVSNRFKTFLLDSDYERLEHGTLFDDKGEKHAKKGVC   1471 - 1540
IWECIDRMHKRSPIFFNYLYSPLEIEALKPNVNVSSLKKWDYYIEETLSTGPSYDWMMLTPKHFPSEDSD   1541 - 1610
LAGEAGPRSQRRTVWPCYDDVSCTQPDALTSLFSEIEKLEHKLNQAPEKWQQLWERVTVDLKEEPRTDRS   1611 - 1680
QRHLSRSPGIVSTNLPSYQKRSLLHLPDSSMGEEQNSSISPSNGVERRAATLYSQYTSKNDENRSFEGTL   1681 - 1750
YKRGALLKGWKPRWFVLDVTKHQLRYYDSGEDTSCKGHIDLAEVEMVIPAGPSMGAPKHTSDKAFFDLKT   1751 - 1820
SKRVYNFCAQDGQSAQQWMDKIQSCISDA                                            1821 - 1849
//

Text Mined References (30)

PMID Year Title
25648148 2015 Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.
25462154 2014 Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
25416956 2014 A proteome-scale map of the human interactome network.
24665060 2014 Genome-wide association study of smoking behaviours among Bangladeshi adults.
23334996 2013 Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23180869 2014 Genome-wide association study of survival in patients with pancreatic adenocarcinoma.
20937701 2010 Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
More...