Aliases for HHIP Gene
External Ids for HHIP Gene
- HGNC: 14866
- Entrez Gene: 64399
- Ensembl: ENSG00000164161
- OMIM: 606178
- UniProtKB: Q96QV1
Previous GeneCards Identifiers for HHIP Gene
- GC04P146367
- GC04P145939
- GC04P146144
- GC04P145924
- GC04P145786
- GC04P145567
- GC04P141298
Summaries for HHIP Gene
-
This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
GeneCards Summary for HHIP Gene
HHIP (Hedgehog Interacting Protein) is a Protein Coding gene. Diseases associated with HHIP include Chondrodysplasia, Blomstrand Type and Metaphyseal Chondrodysplasia, Murk Jansen Type. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Signaling by Hedgehog. GO annotations related to this gene include quinone binding and hedgehog family protein binding. An important paralog of this gene is HHIPL2.
UniProtKB/Swiss-Prot for HHIP Gene
-
Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHIP Gene
Genomics for HHIP Gene
Regulatory Elements for HHIP Gene
Enhancers for HHIP Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH04G144708 | 0.8 | Ensembl ENCODE | 15.8 | +64.4 | 64372 | 4.6 | JUND GATA2 JUN FOS ATF2 MAFK | HHIP HHIP-AS1 GC04P144686 ENSG00000273621 |
| GH04G144578 | 1 | Ensembl ENCODE | 11 | -64.4 | -64416 | 6.7 | ELF3 CTCF FOXA2 JUN CEBPG ZNF384 ZBTB40 RAD21 GATA3 GATA2 | HHIP HHIP-AS1 KRT18P51 |
| GH04G145034 | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 4.4 | +389.1 | 389111 | 1.9 | CTCF PKNOX1 ZNF175 RAD21 FOSL1 ZNF143 SMC3 FOS ZNF584 TRIM24 | HHIP RN7SKP235 ENSG00000251452 |
| GH04G144666 | 0.5 | ENCODE dbSUPER | 12.7 | +21.0 | 21048 | 0.2 | HHIP HHIP-AS1 GC04P144686 | |
| GH04G144700 | 0.4 | ENCODE | 11.4 | +55.5 | 55452 | 1.4 | ZNF280D NR2F2 | HHIP-AS1 HHIP RTN3P1 GC04P144686 ENSG00000273621 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HHIP on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HHIP gene promoter:
Regulatory Element Products
Genomic Location for HHIP Gene
- Chromosome:
- 4
- Start:
- 144,645,996 bp from pter
- End:
- 144,745,271 bp from pter
- Size:
- 99,276 bases
- Orientation:
- Plus strand
Genomic View for HHIP Gene
Genes around HHIP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q31.21 by Ensembl
- 4q31.21 by Entrez Gene
- 4q31.21 by HGNC
HHIP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HHIP Gene
Proteins for HHIP Gene
-
Protein details for HHIP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96QV1-HHIP_HUMAN
- Recommended name:
- Hedgehog-interacting protein
- Protein Accession:
- Q96QV1
- Q6PK09
- Q8NCI7
- Q9BXK3
- Q9H1J4
- Q9H7E7
Protein attributes for HHIP Gene
- Size:
- 700 amino acids
- Molecular mass:
- 78851 Da
- Quaternary structure:
-
- Interacts with all three hedgehog family members, SHH, IHH and DHH.
- SequenceCaution:
-
- Sequence=BAB14945.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for HHIP Gene
Protein Expression for HHIP Gene
Post-translational modifications for HHIP Gene
Other Protein References for HHIP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for HHIP (Hip)
-
Custom Antibody ServicesOriGene Antibodies for HHIP
- Novus Biologicals Antibodies for HHIP
- Invitrogen Antibodies for HHIP
- antibodies-online Antibodies for HHIP: See all 62
- GeneTex HHIP antibody for HHIP
-
Santa Cruz Biotechnology (SCBT) Antibodies for HHIP
Protein Products
- R&D Systems Proteins and Enzymes for HHIP (Hip)
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HHIP
- Origene Custom Protein Services for HHIP
- antibodies-online Proteins for HHIP: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HHIP
Assay Products
- antibodies-online Kits for HHIP: See all 37
No data available for DME Specific Peptides for HHIP Gene
Domains & Families for HHIP Gene
Protein Domains for HHIP Gene
Suggested Antigen Peptide Sequences for HHIP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96QV1UniProtKB/Swiss-Prot:
HHIP_HUMAN :- A flexible loop interacts with the SHH zinc binding site and contributes to zinc binding.
- Belongs to the HHIP family.
- Domain:
-
- A flexible loop interacts with the SHH zinc binding site and contributes to zinc binding.
- Family:
-
- Belongs to the HHIP family.
No data available for Gene Families for HHIP Gene
Function for HHIP Gene
Molecular function for HHIP Gene
- UniProtKB/Swiss-Prot Function:
- Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 19561609 |
| GO:0008270 | zinc ion binding | IDA | 19561609 |
| GO:0016901 | oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for HHIP Gene
- MGI mutant phenotypes for HHIP:
-
inferred from 1 alleles
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- embryo phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for HHIP:
Animal Models for HHIP Gene
- MGI Knock Outs for HHIP:
-
- Hhip tm1Amc
Animal Model Products
-
Taconic Biosciences Mouse Models for HHIP
-
ViGene Biosciences lentiviral particle packaged cDNA for HHIP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIP gene
- Search ViGene Biosciences for HHIP
CRISPR Products
-
OriGene CRISPR knockouts for HHIP
-
Santa Cruz Biotechnology (SCBT) CRISPR for HHIP
- GenScript: Design CRISPR guide RNA sequences for HHIP
miRNA for HHIP Gene
- miRTarBase miRNAs that target HHIP
-
- hsa-mir-526b-5p (MIRT447145)
- hsa-mir-5186 (MIRT447146)
- hsa-mir-570-3p (MIRT447147)
- hsa-mir-1273e (MIRT450857)
- hsa-mir-155-5p (MIRT450858)
- hsa-mir-3653-3p (MIRT450859)
- hsa-mir-548ax (MIRT450860)
- hsa-mir-548ao-5p (MIRT450861)
- hsa-mir-7111-5p (MIRT459910)
- hsa-mir-6870-5p (MIRT459911)
- hsa-mir-4723-5p (MIRT459912)
- hsa-mir-5698 (MIRT459913)
- hsa-mir-3175 (MIRT459914)
- hsa-mir-6883-5p (MIRT459915)
- hsa-mir-6785-5p (MIRT459916)
- hsa-mir-4728-5p (MIRT459917)
- hsa-mir-149-3p (MIRT459918)
- hsa-mir-8085 (MIRT459919)
- hsa-mir-6731-5p (MIRT459920)
- hsa-mir-6797-5p (MIRT459921)
- hsa-mir-1249-5p (MIRT459922)
- hsa-mir-4644 (MIRT459923)
- hsa-mir-4306 (MIRT459924)
- hsa-mir-185-5p (MIRT459925)
- hsa-mir-6133 (MIRT459926)
- hsa-mir-6130 (MIRT459927)
- hsa-mir-6129 (MIRT459928)
- hsa-mir-6127 (MIRT459929)
- hsa-mir-4510 (MIRT459930)
- hsa-mir-4419a (MIRT459931)
- hsa-mir-6770-5p (MIRT459932)
- hsa-mir-6794-5p (MIRT459933)
- hsa-mir-4716-3p (MIRT459934)
- hsa-mir-4756-5p (MIRT459935)
- hsa-mir-4739 (MIRT459936)
- hsa-mir-1321 (MIRT459937)
- hsa-mir-4779 (MIRT459938)
- hsa-mir-6891-5p (MIRT459939)
- hsa-mir-3173-3p (MIRT459940)
- hsa-mir-3924 (MIRT509896)
- hsa-mir-190a-3p (MIRT509897)
- hsa-mir-3941 (MIRT509898)
- hsa-mir-5011-5p (MIRT509899)
- hsa-mir-4643 (MIRT509900)
- hsa-mir-5580-3p (MIRT509901)
- hsa-mir-603 (MIRT509902)
- hsa-mir-362-3p (MIRT509903)
- hsa-mir-329-3p (MIRT509904)
- hsa-mir-8485 (MIRT509905)
- hsa-mir-4789-5p (MIRT523310)
- hsa-mir-574-5p (MIRT523311)
- hsa-mir-223-5p (MIRT523312)
- hsa-mir-297 (MIRT557330)
- hsa-mir-466 (MIRT557331)
- hsa-mir-6867-5p (MIRT557332)
- hsa-mir-567 (MIRT557333)
- hsa-mir-511-3p (MIRT557334)
- hsa-mir-4789-3p (MIRT557335)
- hsa-mir-6507-5p (MIRT557336)
- hsa-mir-186-5p (MIRT557338)
- hsa-mir-6809-3p (MIRT657430)
- hsa-mir-6833-3p (MIRT657431)
- hsa-mir-4768-5p (MIRT657432)
- hsa-mir-6873-3p (MIRT657433)
- hsa-mir-4753-3p (MIRT657434)
- hsa-mir-302a-5p (MIRT657435)
- hsa-mir-130b-5p (MIRT657436)
- hsa-mir-6817-3p (MIRT657437)
- hsa-mir-7110-3p (MIRT657438)
- hsa-mir-513c-3p (MIRT657439)
- hsa-mir-513a-3p (MIRT657440)
- hsa-mir-3606-3p (MIRT657441)
- hsa-mir-6818-3p (MIRT687946)
- hsa-mir-4684-5p (MIRT687947)
- hsa-mir-593-3p (MIRT687948)
- hsa-mir-6895-3p (MIRT687949)
- hsa-mir-5699-3p (MIRT687950)
- hsa-mir-4421 (MIRT687951)
- hsa-mir-339-5p (MIRT687952)
- hsa-mir-3613-3p (MIRT687953)
- hsa-mir-10b-5p (MIRT687954)
- hsa-mir-10a-5p (MIRT687955)
- hsa-mir-6732-3p (MIRT687956)
- hsa-mir-548x-3p (MIRT687957)
- hsa-mir-548j-3p (MIRT687958)
- hsa-mir-548aq-3p (MIRT687959)
- hsa-mir-548am-3p (MIRT687960)
- hsa-mir-548aj-3p (MIRT687961)
- hsa-mir-548ah-3p (MIRT687962)
- hsa-mir-548ae-3p (MIRT687963)
- hsa-mir-548z (MIRT687964)
- hsa-mir-548h-3p (MIRT687965)
- hsa-mir-548d-3p (MIRT687966)
- hsa-mir-548bb-3p (MIRT687967)
- hsa-mir-548ac (MIRT687968)
- hsa-mir-374b-5p (MIRT707515)
- hsa-mir-374a-5p (MIRT707516)
- hsa-mir-200b-5p (MIRT707517)
- hsa-mir-200a-5p (MIRT707518)
- hsa-mir-656-3p (MIRT707519)
- hsa-mir-410-3p (MIRT707520)
- hsa-mir-5692b (MIRT707521)
- hsa-mir-5692c (MIRT707522)
- hsa-mir-369-3p (MIRT707523)
- hsa-mir-1277-5p (MIRT707524)
- hsa-mir-4662a-3p (MIRT707525)
miRNA Products
- Search ViGene Biosciences for HHIP
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HHIP
- Browse OriGene Inhibitory RNA Products For HHIP
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIP gene
Clone Products
- Sino Biological Human cDNA Clone for HHIP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- R&D Systems cDNA Clones for HHIP (Hip)
Cell Line Products
-
Horizon Cell Lines for HHIP
-
ViGene Biosciences adenoviral particle packaged cDNA for HHIP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HHIP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIP gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HHIP Gene
Localization for HHIP Gene
Subcellular locations from UniProtKB/Swiss-Prot for HHIP Gene
- Cell membrane; Peripheral membrane protein. Secreted. Note=The last 22 C-terminal amino acids may participate in cell membrane attachment.
- Isoform 2: Cytoplasm.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 3 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005887 | integral component of plasma membrane | ISS | 11435703 |
Pathways & Interactions for HHIP Gene
Pathways by source for HHIP Gene
1 BioSystems pathway for HHIP Gene
4 Reactome pathways for HHIP Gene
4 KEGG pathways for HHIP Gene
Interacting Proteins for HHIP Gene
Selected Interacting proteins:
Q96QV1-HHIP_HUMAN
ENSP00000296575
for HHIP Gene via
IID
UniProtKB
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007224 | smoothened signaling pathway | IEA | -- |
| GO:0007405 | neuroblast proliferation | IEA | -- |
| GO:0009887 | animal organ morphogenesis | IEA | -- |
Transcripts for HHIP Gene
mRNA/cDNA for HHIP Gene
- (3) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (91) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HHIP Gene
CRISPR Products
-
OriGene CRISPR knockouts for HHIP
-
Santa Cruz Biotechnology (SCBT) CRISPR for HHIP
- GenScript: Design CRISPR guide RNA sequences for HHIP
miRNA Products
- Search ViGene Biosciences for HHIP
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HHIP
- Browse OriGene Inhibitory RNA Products For HHIP
-
ViGene Biosciences ready-to-package AAV shRNAs for HHIP gene
Clone Products
- Sino Biological Human cDNA Clone for HHIP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- R&D Systems cDNA Clones for HHIP (Hip)
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
Expression for HHIP Gene
mRNA differential expression in normal tissues according to GTEx for HHIP Gene
This gene is overexpressed in Brain - Hippocampus (x5.6), Brain - Spinal cord (cervical c-1) (x4.4), Brain - Substantia nigra (x4.3), Brain - Amygdala (x4.1), and Brain - Putamen (basal ganglia) (x4.1).
This gene is overexpressed in Breast (63.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HHIP Gene
NURSA nuclear receptor signaling pathways regulating expression of HHIP Gene:
HHIPSOURCE GeneReport for Unigene cluster for HHIP Gene:
Hs.507991mRNA Expression by UniProt/SwissProt for HHIP Gene:
Q96QV1-HHIP_HUMAN
Tissue specificity:
Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and pancreas, and in fetal kidney.
Evidence on tissue expression from TISSUES for HHIP Gene
- Nervous system(4.7)
- Heart(4.3)
- Muscle(4.1)
- Kidney(2.4)
- Lung(2.4)
Primer Products
-
OriGene qPCR primer pairs for HHIP
-
OriGene qPCR primer pairs and template standards for HHIP
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HHIP Gene
Orthologs for HHIP Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HHIP 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HHIP 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HHIP 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HHIP 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HHIP 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Hhip 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hhip 34 |
|
||
| chicken (Gallus gallus) |
Aves | HHIP 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HHIP 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hhip 34 |
|
||
| Str.9010 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | hhip-prov 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hhip 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for HHIP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HHIP Gene
Variants for HHIP Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for HHIP Gene
- HHIP_HUMAN-Q96QV1
- Genetic variations in HHIP define the stature quantitative trait locus 12 (STQTL12) [MIM:612224]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits.
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000084423 | -- | 144,715,859(+) | CTATT(A/T)CTTTT | intron-variant | |
| rs1000107109 | -- | 144,722,708(+) | AATTA(G/T)CTGGG | intron-variant | |
| rs1000164242 | -- | 144,729,068(+) | GTTTG(C/T)GTACT | intron-variant | |
| rs1000184775 | -- | 144,737,222(+) | AAAGC(A/C)TATGC | intron-variant | |
| rs1000188175 | -- | 144,709,013(+) | CTATG(A/C)AGTAT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2578862 | CNV | deletion | 19546169 |
| esv3340597 | CNV | insertion | 20981092 |
Residual Variation Intolerance Score:
63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.02;
60.41% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HHIP Gene
Disorders for HHIP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chondrodysplasia, blomstrand type |
|
|
| metaphyseal chondrodysplasia, murk jansen type |
|
|
| basal cell carcinoma |
|
|
Search HHIP in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HHIP
No data available for UniProtKB/Swiss-Prot and Genatlas for HHIP Gene
Publications for HHIP Gene
- The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21-->q31.3. (PMID: 11435703) Bak M. … Tommerup N. (Cytogenet. Cell Genet. 2001) 2 3 4 22 64
- The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling. (PMID: 19561609) Bosanac I. … Lazarus R.A. (Nat. Struct. Mol. Biol. 2009) 3 4 22 64
- Structural insights into hedgehog ligand sequestration by the human hedgehog-interacting protein HHIP. (PMID: 19561611) Bishop B. … Siebold C. (Nat. Struct. Mol. Biol. 2009) 3 4 22 64
- A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. (PMID: 19300482) Pillai S.G. … Goldstein D.B. (PLoS Genet. 2009) 3 22 46 64
- A genome-wide association study of pulmonary function measures in the Framingham Heart Study. (PMID: 19300500) Wilk J.B. … O'Connor G.T. (PLoS Genet. 2009) 3 22 46 64
Products for HHIP Gene
- R&D Systems Antibodies for HHIP (Hip)
- R&D Systems Proteins and Enzymes for HHIP (Hip)
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for HHIP (Hip)
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for HHIP
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HHIP
- Origene Custom Protein Services for HHIP
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HHIP
- Browse OriGene Inhibitory RNA Products For HHIP
- OriGene qPCR primer pairs and template standards for HHIP
- OriGene qPCR primer pairs for HHIP
- OriGene CRISPR knockouts for HHIP
- OriGene ORF clones in human for HHIP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HHIP
- GenScript: Next-day shipping cDNA ORF clone for HHIP in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HHIP
- GenScript Custom Assay Services for HHIP
- GenScript Custom overexpressing Cell Line Services for HHIP
- GenScript: Design CRISPR guide RNA sequences for HHIP
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HHIP
- Sino Biological Human cDNA Clone for HHIP
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HHIP
- Novus Biologicals proteins and lysates for HHIP
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Taconic Biosciences Mouse Models for HHIP
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for HHIP: See all 62
- antibodies-online Kits for HHIP: See all 37
- antibodies-online Proteins for HHIP: See all 3
- Search antibodies-online for peptides
- GeneTex HHIP antibody for HHIP
- Search GeneTex for Proteins for HHIP
- ViGene Biosciences adenoviral particle packaged cDNA for HHIP gene
- ViGene Biosciences lentiviral particle packaged cDNA for HHIP gene
- ViGene Biosciences ready-to-package AAV shRNAs for HHIP gene
- Search ViGene Biosciences for HHIP
- Santa Cruz Biotechnology (SCBT) Antibodies for HHIP
- Search Santa Cruz Biotechnology (SCBT) for HHIP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HHIP
- Horizon Cell Lines for HHIP
- Cyagen custom Knockout/knockin (KOKI) mouse models for HHIP
- VectorBuilder custom plasmid, inducible vectors for HHIP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HHIP
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HHIP Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer