full name
twist family bHLH transcription factor 1

synonyms
ACS3, bHLHa38, BPES2, BPES3, CRS1, SCS, TWIST, TWIST1, ENSG00000122691

HGNC
HGNC:12428

Entrez Gene
Gene:7291

ENSEMBL
ENSG00000122691

location
chr: 7
start: 19039315
stop: 19157295
strand: -

OMIM
OMIM:601622: TWIST1 (Autosomal dominant inheritance)
OMIM:123100: Craniosynostosis 1
OMIM:180750: Robinow-Sorauf syndrome
OMIM:101400: Saethre-Chotzen syndrome with or without eyelid anomalies
OMIM:617746: Sweeney-Cox syndrome

transcripts
NM_000474.3

pathways
Cytokine Signaling in Immune system [NCBI:1269310] [REACTOME:R-HSA-1280215] [PUBMED:12613569]
HIF-2-alpha transcription factor network [NCBI:137956] [Pathway Interaction Database:hif2pathway] [PUBMED:10671489] [PUBMED:11983697] [PUBMED:11823643] [PUBMED:15039136] [PUBMED:19352007] [PUBMED:18356544] [PUBMED:17097563] [PUBMED:16740701] [PUBMED:19541651] [PUBMED:17873906] [PUBMED:12080085] [PUBMED:11292862] [PUBMED:16510872] [PUBMED:19498162] [PUBMED:10353251] [PUBMED:18625704] [PUBMED:15247232] [PUBMED:9079689] [PUBMED:19204094] [PUBMED:17322295] [PUBMED:17804822] [PUBMED:9113979] [PUBMED:12464608] [PUBMED:18434321] [PUBMED:15592504] [PUBMED:10878807] [PUBMED:17324924] [PUBMED:15192019] [PUBMED:9000051] [PUBMED:16611993] [PUBMED:10823831]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Interleukin-4 and 13 signaling [NCBI:1470923] [REACTOME:R-HSA-6785807] [PUBMED:12704343] [PUBMED:10358772]
Notch-mediated HES/HEY network [NCBI:169347] [Pathway Interaction Database:hes_heypathway] [PUBMED:15546612] [PUBMED:11038350] [PUBMED:12065598] [PUBMED:11741889] [PUBMED:10851137] [PUBMED:10205173] [PUBMED:10747963] [PUBMED:10913198] [PUBMED:11101851] [PUBMED:16201968] [PUBMED:12488457] [PUBMED:12370315] [PUBMED:19116245] [PUBMED:16025100] [PUBMED:11486044] [PUBMED:15607978] [PUBMED:15467735] [PUBMED:14739937] [PUBMED:9694793] [PUBMED:8749394] [PUBMED:16782059] [PUBMED:12972610] [PUBMED:17392792] [PUBMED:11334435] [PUBMED:11486045] [PUBMED:16753023] [PUBMED:15485867] [PUBMED:15866158] [PUBMED:16199874] [PUBMED:12374742] [PUBMED:9570950] [PUBMED:10964718] [PUBMED:16682003] [PUBMED:16287852] [PUBMED:10692439] [PUBMED:11095750] [PUBMED:11287612] [PUBMED:15314183] [PUBMED:15156153] [PUBMED:15684393] [PUBMED:7566092] [PUBMED:11604511] [PUBMED:9819403] [PUBMED:15563463] [PUBMED:15870295]
Proteoglycans in cancer [NCBI:782000] [KEGG:hsa05205] [PUBMED:19433454] [PUBMED:20655987] [PUBMED:18798267] [PUBMED:10633082] [PUBMED:10687947] [PUBMED:22735579] [PUBMED:24412155] [PUBMED:9346940] [PUBMED:22087031] [PUBMED:22194599] [PUBMED:14711376] [PUBMED:19255147] [PUBMED:15655247] [PUBMED:11717317] [PUBMED:17971838] [PUBMED:18413366] [PUBMED:20974860] [PUBMED:11830493] [PUBMED:23058688] [PUBMED:18450475] [PUBMED:12748184] [PUBMED:19733083] [PUBMED:18812315] [PUBMED:12509413] [PUBMED:21155971] [PUBMED:11931647] [PUBMED:18949819] [PUBMED:12729888] [PUBMED:15994311] [PUBMED:23305321] [PUBMED:18505598] [PUBMED:22563565] [PUBMED:22033227]
Signaling by Interleukins [NCBI:1269318] [REACTOME:R-HSA-449147] [PUBMED:19302047] [PUBMED:12445398]