full name
SKI proto-oncogene

synonyms
SGS, SKV, SKI, ENSG00000157933

HGNC
HGNC:10896

Entrez Gene
Gene:6497

ENSEMBL
ENSG00000157933

location
chr: 1
start: 2160134
stop: 2241652
strand: +

OMIM
OMIM:164780: SKI (Autosomal dominant inheritance,Sporadic)
OMIM:182212: Shprintzen-Goldberg syndrome

transcripts
NM_003036.3

pathways
BMP receptor signaling [NCBI:137948] [Pathway Interaction Database:bmppathway] [PUBMED:12857866] [PUBMED:9136927] [PUBMED:10748465] [PUBMED:11158580] [PUBMED:8752214] [PUBMED:11401399] [PUBMED:9442019] [PUBMED:9660951] [PUBMED:17085434] [PUBMED:10814522] [PUBMED:11714695] [PUBMED:7644468] [PUBMED:16604073] [PUBMED:8006002] [PUBMED:9335505] [PUBMED:17289590] [PUBMED:8065329] [PUBMED:15671031] [PUBMED:9436979] [PUBMED:11121043] [PUBMED:8893010] [PUBMED:10748100] [PUBMED:16931515] [PUBMED:7937936] [PUBMED:11016919] [PUBMED:15975920] [PUBMED:9878061] [PUBMED:17356069] [PUBMED:10504300] [PUBMED:7673243] [PUBMED:8752213] [PUBMED:8662721] [PUBMED:10458166] [PUBMED:7791754] [PUBMED:10519551] [PUBMED:9689081] [PUBMED:15020244] [PUBMED:8653785]
C-MYB transcription factor network [NCBI:138073] [Pathway Interaction Database:cmyb_pathway] [PUBMED:2233716] [PUBMED:17152050] [PUBMED:9244354] [PUBMED:8598284] [PUBMED:1679531] [PUBMED:8654374] [PUBMED:17077080] [PUBMED:1944282] [PUBMED:7964503] [PUBMED:12424255] [PUBMED:15608679] [PUBMED:10619021] [PUBMED:16055116] [PUBMED:8946914] [PUBMED:9659917] [PUBMED:9135152] [PUBMED:7721782] [PUBMED:11290610] [PUBMED:12244173] [PUBMED:15687240] [PUBMED:8264615] [PUBMED:10722757] [PUBMED:17242210] [PUBMED:14761981] [PUBMED:10542314] [PUBMED:11781241] [PUBMED:8756344] [PUBMED:9809063] [PUBMED:11094072] [PUBMED:7565722] [PUBMED:10523863] [PUBMED:10644988] [PUBMED:11259170] [PUBMED:8491193] [PUBMED:9244356] [PUBMED:14576818] [PUBMED:9096387] [PUBMED:17641686] [PUBMED:7509358] [PUBMED:17931383] [PUBMED:1594249] [PUBMED:11581319] [PUBMED:16407849] [PUBMED:10766162] [PUBMED:17822556] [PUBMED:11115410] [PUBMED:9490676] [PUBMED:15867358] [PUBMED:8756629] [PUBMED:17959653] [PUBMED:7684005] [PUBMED:15082531] [PUBMED:9566892] [PUBMED:11287612] [PUBMED:10590070] [PUBMED:17587615] [PUBMED:11259163] [PUBMED:11792321] [PUBMED:12673198] [PUBMED:11779867] [PUBMED:11427482] [PUBMED:15356292] [PUBMED:15778089]
Downregulation of SMAD2/3:SMAD4 transcriptional activity [NCBI:1269529] [REACTOME:R-HSA-2173795] [PUBMED:11389444] [PUBMED:10535941] [PUBMED:16751101] [PUBMED:17591695] [PUBMED:10485843] [PUBMED:21095583] [PUBMED:11427533] [PUBMED:19135894] [PUBMED:10531062] [PUBMED:22045334] [PUBMED:10549282] [PUBMED:19917253] [PUBMED:10199400]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15680972] [PUBMED:14744435] [PUBMED:15175151] [PUBMED:15896744] [PUBMED:11395415] [PUBMED:10235266] [PUBMED:12023297] [PUBMED:14986688] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:16719718] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:15690163] [PUBMED:16921404]
Hedgehog Signaling Pathway [NCBI:198835] [WikiPathways:WP47] [PUBMED:15205520] [PUBMED:3147217]
Regulation of nuclear SMAD2/3 signaling [NCBI:137963] [Pathway Interaction Database:smad2_3nuclearpathway] [PUBMED:15009097] [PUBMED:11114293] [PUBMED:10973944] [PUBMED:10995736] [PUBMED:10022869] [PUBMED:15363409] [PUBMED:11790301] [PUBMED:11836524] [PUBMED:14993291] [PUBMED:12904571] [PUBMED:11058129] [PUBMED:9707553] [PUBMED:9702197] [PUBMED:12718878] [PUBMED:9722503] [PUBMED:11013220] [PUBMED:14729983] [PUBMED:10878024] [PUBMED:10887155] [PUBMED:9679060] [PUBMED:11331591] [PUBMED:9606191] [PUBMED:12167862] [PUBMED:12374795] [PUBMED:10037600] [PUBMED:12150994] [PUBMED:11555647] [PUBMED:12631740] [PUBMED:10748032] [PUBMED:10518526] [PUBMED:15688032] [PUBMED:14691252] [PUBMED:10575014] [PUBMED:15241418] [PUBMED:10485843] [PUBMED:14671321] [PUBMED:10964912] [PUBMED:11283614] [PUBMED:11711431] [PUBMED:11427533] [PUBMED:11571228] [PUBMED:11707452] [PUBMED:10531362] [PUBMED:12551947] [PUBMED:15044954] [PUBMED:17074756] [PUBMED:11801598] [PUBMED:10085140] [PUBMED:9618481] [PUBMED:10843994] [PUBMED:15084259] [PUBMED:12226080] [PUBMED:10531062] [PUBMED:9732876] [PUBMED:10652350] [PUBMED:10557285] [PUBMED:11927558] [PUBMED:16959612] [PUBMED:10199400] [PUBMED:9702198] [PUBMED:10722728] [PUBMED:17478422] [PUBMED:9679056]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
Signaling by BMP [NCBI:1269522] [REACTOME:R-HSA-201451] [PUBMED:19762341]
Signaling by TGF-beta Receptor Complex [NCBI:1269523] [REACTOME:R-HSA-170834] [PUBMED:19648010]
TGF Beta Signaling Pathway [NCBI:198810] [WikiPathways:WP560] [PUBMED:20621048] [PUBMED:11252892] [PUBMED:11057902]
TGF-beta Receptor Signaling Pathway [NCBI:198774] [WikiPathways:WP366]
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer [NCBI:1269527] [REACTOME:R-HSA-2173793] [PUBMED:12150994] [PUBMED:10199400] [PUBMED:18568018] [PUBMED:19135894] [PUBMED:10531062] [PUBMED:16751101]