Property Summary

NCBI Gene PubMed Count 21
PubMed Score 24.73
PubTator Score 19.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ependymoma 2514 1.04594446217518E-7
osteosarcoma 7933 1.23769962821272E-7
atypical teratoid / rhabdoid tumor 4369 3.87392768295071E-5
psoriasis 6685 5.21317762904738E-5
medulloblastoma, large-cell 6234 8.48654689235184E-4
adult high grade glioma 2148 0.00108497367182224
group 3 medulloblastoma 2254 0.00137857747366736
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00363460971755795
glioblastoma 5572 0.00374797179705569
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count
Charcot-Marie-Tooth disease 4B3 1

Expression

  Differential Expression (9)

Disease log2 FC p
psoriasis -2.000 0.000
osteosarcoma -2.683 0.000
ependymoma -1.200 0.000
atypical teratoid / rhabdoid tumor -1.500 0.000
glioblastoma -1.200 0.004
medulloblastoma, large-cell -1.500 0.001
intraductal papillary-mucinous adenoma (... 1.300 0.004
adult high grade glioma -1.400 0.001
group 3 medulloblastoma -1.200 0.001

Synonym

Accession O95248 A6PVG9 O60228 Q5JXD8 Q5PPM2 Q96GR9 Q9UGB8
Symbols MTMR5
CMT4B3
DENND7A

Gene

PANTHER Protein Class (2)

  Ortholog (11)

Species Source
Chimp OMA EggNOG Inparanoid
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG
Pig OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA Inparanoid

 GWAS Trait (1)

Gene RIF (7)

PMID Text
24817947 ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.
23749797 Compound heterozygous mutations in SBF1 appear to be the underlying causes of a novel Charcot-Marie-Tooth disease type 4B subtype (designated as CMT4B3) in a Korean family.
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
19369647 Observational study of gene-disease association. (HuGE Navigator)
12668758 MTMR2 interacts with MTMR5 via its coiled-coil domain and that mutations in the coiled-coil domain of either MTMR2 or MTMR5 abrogate this interaction.
9736772 SBF1 (MTMR5) belongs to the myotubularin family of phosphoinositides phosphatases-like

AA Sequence

MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVL      1 - 70
TDINSERHYCACLTFWEPAEPSQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLD     71 - 140
HTEVFRNSLGLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCS    141 - 210
VALLFRQLGITNVLSLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLST    211 - 280
PTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAF    281 - 350
PPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVL    351 - 420
EGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQ    421 - 490
RPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSA    491 - 560
RRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNC    561 - 630
CLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLE    631 - 700
PTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLP    701 - 770
LDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTE    771 - 840
SGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDGLRVYLLPDGRE    841 - 910
EGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVDQLLQDG    911 - 980
LQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLRT    981 - 1050
LSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSS   1051 - 1120
LVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQN   1121 - 1190
RFPVVCWRSGRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASG   1191 - 1260
RNTLSGFSSAHMGSHGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILG   1261 - 1330
DKAQLKGVRSDPLQQWELVPIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKL   1331 - 1400
LQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAH   1401 - 1470
TLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEE   1471 - 1540
KGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWEL   1541 - 1610
AQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVKA   1611 - 1680
AQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTL   1681 - 1750
YSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTP   1751 - 1820
TMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA                          1821 - 1867
//

Text Mined References (27)

PMID Year Title
24817947 2014 DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.
24799518 2014 SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23749797 2013 SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20937701 2010 Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
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