 |
 | Services
| |
 |
Aliases &
Descriptions
for SHH
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| HHG-1 3 | | HHG1 1, 2 | | HLP3 2, 5 | | HPE3 2, 5 | | MCOPCB5 1, 2, 5 | | SMMCI 1, 2, 5 | | TPT 1, 2 | | TPTPS 1, 2 |
| | | Descriptions |
|---|
| sonic hedgehog 2 | | sonic hedgehog (Drosophila) homolog 1 | | sonic hedgehog homolog (Drosophila) 2 |
|
| |
Search outside databases for aliases for SHH genePrevious GC identifers: GC07M153825 GC07M154898 GC07M155013 GC07M155014 GC07M155095 |
Summaries
for SHH(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SHH:
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]
UniProtKB/Swiss-Prot: SHH_HUMAN, Q15465Function: Binds to the patched (PTC) receptor, which functions in association with smoothened
(SMO), to activate the transcription of target genes. In the absence of SHH, PTC represses the
constitutive signaling activity of SMO. Also regulates another target, the gli oncogene.
Intercellular signal essential for a variety of patterning events during development: signal
produced by the notochord that induces ventral cell fate in the neural tube and somites, and the
polarizing signal for patterning of the anterior-posterior axis of the developing limb bud.
Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of
N-product required for motor neuron induction is 5-fold lower than that required for floor plate
induction (By similarity)Gene Wiki entry for SHH (Sonic_hedgehog) |
Genomic Location
for SHH
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the SHH gene 
Entrez Gene cytogenetic band: 7q36 Ensembl cytogenetic band: 7q36.3 HGNC cytogenetic band: 7q36SHH Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M155288:
(about GC identifiers)
Start:
|
155,288,319 bp from pter |
End:
|
155,297,728 bp from pter |
Size:
|
9,410 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 154,827,119-154,836,528 |
RefSeq DNA sequence:- NC_000007.12 NT_007741.13 NT_079596.2
| Proteins
for SHH
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: SHH_HUMAN, Q15465 (See
protein sequence)Recommended Name: Sonic hedgehog protein precursor Size: 462 amino acids; 49607 Da
Subunit: Interacts with HHATL/GUP1 which negatively regulates HHAT-mediated palmitoylation of the
SHH N-terminus. N-product is active as a multimer (By similarity)
Subcellular location: Sonic hedgehog protein C-product: Secreted, extracellular space (By
similarity). Note=The C-terminal peptide diffuses from the cell (By similarity)
Subcellular location: Sonic hedgehog protein N-product: Cell membrane; Lipid-anchor (By
similarity). Note=The N-product either remains associated with lipid rafts at the cell surface, or
forms freely diffusible active multimers with its hydrophobic lipid-modified N- and C-termini
buried inside (By similarity)
Mass spectrometry: Mass=19.560; Method=Electrospray; Range=24-197; Note=Soluble N-product, purified
from insect cells; Source=PubMed:9593755;
Mass spectrometry: Mass=20.167; Method=Electrospray; Range=24-197; Note=Membrane-bound N-product,
purified from insect cells; Source=PubMed:9593755;
Secondary accessions: A4D247 Q75MC9Post-translational modifications:
The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity.
Both activities result in the cleavage of the full-length protein and covalent attachment of a
cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). The
N-product is the active species in both local and long-range signaling, whereas the C-product has
no signaling activity1
Cholesterylation is required for N-product targeting to lipid rafts and multimerization (By
similarity)1
N-palmitoylation of Cys-24 by HHAT is required for N-product multimerization and full activity (By
similarity)1
REFSEQ proteins: NP_000184.1
ENSEMBL proteins: ENSP00000297261
Human Recombinant Proteins  Browse Origene for full length recombinant human proteins expressed in human HEK293 cells
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SHH:
Assays for SHH: | Protein
Domains/
Families
for SHH(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q15465
ProtoNet protein and cluster: Q15465 5 Blocks protein families: IPB000320 Hedgehog amino-terminal signaling domain IPB001657 Sonic hedgehog protein signature IPB001767 Hedgehog protein IPB003586 Hedgehog/Intein hint domain IPB009045 Hedgehog/DD-peptidase
UniProtKB/Swiss-Prot: SHH_HUMAN, Q15465Similarity: Belongs to the hedgehog family | Gene Function
for SHH
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000193
 Applied Biosystems Silencer® siRNAs for SHH
 Sigma-Aldrich siRNA and siRNA Panels for SHH
Sigma-Aldrich shRNA Panels for SHH
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_000193
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000193
untagged cDNA clone in CMV expression vector: NM_000193
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_000193
UniProtKB/Swiss-Prot: SHH_HUMAN, Q15465Function: Binds to the patched (PTC) receptor, which functions in association with smoothened
(SMO), to activate the transcription of target genes. In the absence of SHH, PTC represses the
constitutive signaling activity of SMO. Also regulates another target, the gli oncogene.
Intercellular signal essential for a variety of patterning events during development: signal
produced by the notochord that induces ventral cell fate in the neural tube and somites, and the
polarizing signal for patterning of the anterior-posterior axis of the developing limb bud.
Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of
N-product required for motor neuron induction is 5-fold lower than that required for floor plate
induction (By similarity)Genatlas biochemistry entry for SHH:embryonic patterning gene,Drosophila segment polarity gene Sonic hedgehog homolog,general
ventralizing signal,expressed in the notochord and floor plate cells,gut endoderm,posterior limb
buds,inductive signal for somite differentiation and limb development at the anteroposterior
axis,targetting BMP2 and HOXD genes through a FGF4 positive feedback loop,also expressed in fetal
liver,lung and kidney and in hair follicle,involved in signal transduction,SHH pathway15/27 MGI mutant phenotypes (inferred from 22 alleles ) (MGI details for Shh) (see all 27
):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions
for SHH
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5 Sigma-Aldrich "Your Favorite Gene" Pathways for SHH (Your Favorite Gene powered by Ingenuity)
Gene Network CentralTM Interacting Genes and Proteins Network for SHH
5/166 Interacting proteins for SHH (ENSP000002972613) via UniProtKB, MINT, and/or STRING (see all 166
)About this table
5/58 Gene Ontology (GO) biological process terms (links to tree view) (see all 58
): About this table
|
Drugs & Compounds
for SHH(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for SHH |
 Compounds for SHH available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| SANT-1 | Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity | [304909-07-7] |
About this table
2  Novoseek chemical compound relationships for SHH gene
About this table
2 PharmGKB drug compound relationship for SHH gene
| Drug compound |
PharmGKB Relations |
PubMed IDs for articles supporting these relationships |
| statin | PD | 15546153 | About this table
|
Transcripts
for SHH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000193
Sigma-Aldrich siRNA and siRNA Panels for SHH
Sigma-Aldrich shRNA Panels for SHH
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_000193 REFSEQ mRNAs for SHH gene: NM_000193.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000193
OriGene GFP tagged cDNA clone in CMV expression vector: NM_000193
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000193
untagged cDNA clone in CMV expression vector: NM_000193
Additional cDNA sequence: AY927450.1 AY927451.1 AY927452.1 AY927453.1 AY927454.1 AY927455.1 L38518.1 3 DOTS entries: DT.121093532 DT.305318 DT.405095 4 AceView cDNA sequences:NM_000193 AA076750 L38518 BX452210
 highest scoring ESTs for SHH:L38518 AA076750 BX452210 NM_000193 AA076861 AA077592 AA503654 AA904572 AI192528 AW969518 Unigene Cluster for SHH: Sonic hedgehog homolog (Drosophila) Hs.164537 [show with all ESTs]Unigene Representative Sequence: NM_000193
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000297261
|
Expression
for SHH
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SHH expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SHH
1 / 2 / 3 3 probe-sets matching SHH gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GCGGTCAAGT
SOURCE GeneReport for Unigene cluster: Hs.164537
Expression variation in blood from EXPOLDB for SHH UniProtKB/Swiss-Prot: SHH_HUMAN, Q15465Tissue specificity: Expressed in fetal intestine, liver, lung, and kidney. Not expressed in adult
tissues |
Orthologs
for SHH
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SHH gene from 5/10 species (see all 10
)
About this table Species with no ortholog for SHH
ENSEMBL Gene Tree for SHH | Paralogs
for SHH(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for SHH gene
- IHH2 DHH2
|
SNPs/Variants
for SHH(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SHH (up to first 250kb)
|
Disorders & Mutations
for SHH
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 600725 disorders: 142945 147250 120200 611638 UniProtKB/Swiss-Prot: SHH_HUMAN, Q15465
Defects in SHH are the cause of microphthalmia isolated with coloboma type 5 (MCOPCB5)
[MIM:611638]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from
small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities
like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other
abnormalities like cataract may also be present. Ocular colobomas are a set of malformations
resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal
fissure (optic fissure) Defects in SHH are the cause of holoprosencephaly type 3 (HPE3) [MIM:142945].
Holoprosencephaly (HPE) [MIM:236100] is the most common structural anomaly of the brain, in which
the developing forebrain fails to correctly separate into right and left hemispheres.
Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and
phenotypic variability. The majority of HPE3 cases are apparently sporadic, although clear
exemples of autosomal dominant inheritance have been described. Interestingly, up to 30% of
obligate carriers of HPE3 gene in autosomal dominant pedigrees are clinically unaffected Defects in SHH are a cause of solitary median maxillary central incisor (SMMCI)
[MIM:147250]. SMMCI is a rare dental anomaly characterized by the congenital absence of one
maxillary central incisor Defects in SHH are the cause of triphalangeal thumb-polysyndactyly syndrome (TPTPS)
[MIM:174500]. TPTPS is an autosomal dominant syndrome characterized by a wide spectrum of pre- and
post-axial abnormalities due to altered SHH expression pattern during limb development. TPTPS
mutations have been mapped to the 7q36 locus in the LMBR1 gene which contains in its intron 5 a
long-range cis-regulatory element of SHH expression10/15 Novoseek disease relationships for SHH gene (see all 15
)
About this table
0 PharmGKB disease relationship for SHH geneAbout this table
Human Gene Mutation Database: SHH
Genetic Association Database: SHH
Human Genome Epidemiology Navigator: SHH (5 documents)
|
Medical News
for SHH(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications
for SHH (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/223 PubMed articles for SHH gene (see all 223
):- Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. (PubMed id 7590746)1, 2, 3, 4 Marigo V.... Tabin C. (1995)
- SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity. (PubMed id 12709790)1, 3, 6 Schell-Apacik C....Ming J.E. (2003)
- Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. (PubMed id 10441331)1, 3, 4 Odent S....Vekemans M. (1999)
- The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. (PubMed id 10556296)1, 3, 4 Nanni L.... Muenke M. (1999)
- Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PubMed id 15221788)1, 3, 4 Dubourg C.... David V. (2004)
- Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)3, 4 Liu T.... Smith R.D. (2005)
- Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients. (PubMed id 15249145)3, 6 Bak M....Tommerup N. (2004)
- Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. (PubMed id 12503095)3, 4 Schimmenti L.A.... Muenke M. (2003)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)3, 4 Hillier L.W.... Wilson R.K. (2003)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)3, 4 Scherer S.W....Tsui L.C. (2003)
|
Search for SHH
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SHH
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SHH
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SHH(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for SHH | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.genetests.org/query?gene=SHH | | NIEHS-SNPs | http://egp.gs.washington.edu/data/shh/ |
|
| | | About This Section
| --
| Services
for SHH(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for SHH:
 | |
 | | | | |
 |
 |  |  | |
 | Antibodies & Assays for SHH |
| | | | | Tocris compounds for SHH |
|
 |
 | | | | Antibodies for SHH |
|
|
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|
V3 here soon-try beta now
