shh Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description sonic hedgehog|This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008] (NCBI Entrez Gene Database, 6469)
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Genes

76 genes co-occuring with the biological term shh in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
AR androgen receptor
BCL6 B-cell CLL/lymphoma 6
BCOR BCL6 corepressor
BDNF brain-derived neurotrophic factor
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BOC BOC cell adhesion associated, oncogene regulated
BTG2 BTG family, member 2
CASP9 caspase 9, apoptosis-related cysteine peptidase
CDX2 caudal type homeobox 2
COL1A1 collagen, type I, alpha 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCR4 chemokine (C-X-C motif) receptor 4
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ESR1 estrogen receptor 1
FGF10 fibroblast growth factor 10
FGF4 fibroblast growth factor 4
FGFR2 fibroblast growth factor receptor 2
FHL2 four and a half LIM domains 2
FLT4 fms-related tyrosine kinase 4
FOXE1 forkhead box E1
FOXF1 forkhead box F1
FOXM1 forkhead box M1
GAS1 growth arrest-specific 1
GLI1 GLI family zinc finger 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GPC5 glypican 5
HHAT hedgehog acyltransferase
HHIP hedgehog interacting protein
IHH indian hedgehog
INHBB inhibin, beta B
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
LAMA5 laminin, alpha 5
LZTFL1 leucine zipper transcription factor-like 1
MMP9 matrix metallopeptidase 9
NELL1 NEL-like 1 (chicken)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NOG noggin
NOTCH1 notch 1
NR5A2 nuclear receptor subfamily 5, group A, member 2
NRP1 neuropilin 1
PAX3 paired box 3
PDX1 pancreatic and duodenal homeobox 1
PGF placental growth factor
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
RUNX3 runt-related transcription factor 3
SCUBE2 signal peptide, CUB domain, EGF-like 2
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SHH sonic hedgehog
SIRT1 sirtuin 1
SIX3 SIX homeobox 3
SMAD3 SMAD family member 3
SMO smoothened, frizzled class receptor
SNAI1 snail family zinc finger 1
SOSTDC1 sclerostin domain containing 1
SOX9 SRY (sex determining region Y)-box 9
SUFU suppressor of fused homolog (Drosophila)
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TERT telomerase reverse transcriptase
TGFBR1 transforming growth factor, beta receptor 1
TGIF1 TGFB-induced factor homeobox 1
TP63 tumor protein p63
ULK3 unc-51 like kinase 3
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
WNT5A wingless-type MMTV integration site family, member 5A
WNT8B wingless-type MMTV integration site family, member 8B
YAP1 Yes-associated protein 1
ZIC1 Zic family member 1
ZIC2 Zic family member 2