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HHIP Gene

protein-coding   GIFtS: 58
GCID: GC04P145567

Hedgehog Interacting Protein

(Previous name: hedgehog-interacting protein)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hedgehog Interacting Protein1 2
HIP2 3 5
Hedgehog-Interacting Protein1 2

External Ids:    HGNC: 148661   Entrez Gene: 643992   Ensembl: ENSG000001641617   OMIM: 6061785   UniProtKB: Q96QV13   

Export aliases for HHIP gene to outside databases

Previous GC identifers: GC04P146367 GC04P145939 GC04P146144 GC04P145924 GC04P145786 GC04P141298


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 combined pituitary hormone deficiency, and holoprosencephaly. 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: HHIP_HUMAN, Q96QV1
Function: Modulates hedgehog signaling in several cell types including brain and lung through direct interaction
with members of the hedgehog family

Gene Wiki entry for HHIP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HHIP gene promoter:
         SRF   GCNF   SRF (504 AA)   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   FAC1   GATA-6   Zic1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHHIP promoter sequence
   Search Chromatin IP Primers for HHIP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HHIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q28-q32   Ensembl cytogenetic band:  4q31.21   HGNC cytogenetic band: 4q31.21-q31.3

HHIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HHIP gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P145567:  view genomic region     (about GC identifiers)

Start:
145,567,148 bp from pter      End:
145,666,423 bp from pter
Size:
99,276 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HHIP_HUMAN, Q96QV1 (See protein sequence)
Recommended Name: Hedgehog-interacting protein precursor  
Size: 700 amino acids; 78851 Da
Subunit: Interacts with all three hedgehog family members, SHH, IHH and DHH
Sequence caution: Sequence=BAB14945.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for HHIP (see all 7):
2WFT (3D)        2WFX (3D)        2WG3 (3D)        2WG4 (3D)        3HO3 (3D)        3HO4 (3D)    
Secondary accessions: Q6PK09 Q8NCI7 Q9BXK3 Q9H1J4 Q9H7E7
Alternative splicing: 2 isoforms:  Q96QV1-1   Q96QV1-2   (Potentially soluble form)

Explore the universe of human proteins at neXtProt for HHIP: NX_Q96QV1

Explore proteomics data for HHIP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys247, Lys270, Lys659
  • Glycosylation2 at Asn99, Asn416, Asn447, Asn459
  • Modification sites at PhosphoSitePlus

  • See HHIP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071920.1  
    ENSEMBL proteins: 
     ENSP00000296575   ENSP00000408587  

    HHIP Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for HHIP
    GenScript Custom Purified and Recombinant Proteins Services for HHIP
    Novus Biologicals HHIP Protein
    Novus Biologicals HHIP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HHIP

    HHIP Antibody Products:

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    Novus Biologicals HHIP Antibodies
    Search for Antibodies for HHIP at Abcam
    Cloud-Clone Corp. Antibodies for HHIP
    ThermoFisher Antibodies for HHIP
    LSBio Antibodies in human, mouse, rat for HHIP

    HHIP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for HHIP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HHIP
    Cloud-Clone Corp. CLIAs for HHIP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR012938 Glc/Sorbosone_DH
     IPR018143 Folate_rcpt-like
     IPR000742 EG-like_dom
     IPR011041 Quinoprot_gluc/sorb_DH
     IPR011042 6-blade_b-propeller_TolB-like

    Graphical View of Domain Structure for InterPro Entry Q96QV1

    ProtoNet protein and cluster: Q96QV1

    UniProtKB/Swiss-Prot: HHIP_HUMAN, Q96QV1
    Domain: A flexible loop interacts with the SHH zinc binding site and contributes to zinc binding
    Similarity: Belongs to the HHIP family
    Similarity: Contains 2 EGF-like domains


    HHIP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HHIP_HUMAN, Q96QV1
    Function: Modulates hedgehog signaling in several cell types including brain and lung through direct interaction
    with members of the hedgehog family

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI19561609
    GO:0008270zinc ion binding IDA19561609
    GO:0016901oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor IEA--
    GO:0048038quinone binding IEA--
         
    HHIP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HHIP:
     Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hhip):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  immune system  mortality/aging  nervous system 
     respiratory system  vision/eye 

    HHIP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HHIP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HHIP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HHIP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HHIP

    miRNA
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    Block miRNA regulation of human, mouse, rat HHIP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HHIP (see all 14):
    hsa-miR-411* hsa-miR-3163 hsa-miR-3130-5p hsa-miR-365 hsa-miR-148b* hsa-miR-379* hsa-miR-548o hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidHHIP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HHIP
    Predesigned siRNA for gene silencing in human, mouse, rat HHIP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HHIP

    Clone
    Products:
         
    OriGene clones in human, mouse for HHIP (see all 6)
    OriGene ORF clones in mouse, rat for HHIP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HHIP (NM_022475)
    Sino Biological Human cDNA Clone for HHIP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HHIP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHIP

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HHIP
    Browse ESI BIO Cell Lines and PureStem Progenitors for HHIP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHIP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HHIP_HUMAN, Q96QV1: Cell membrane; Peripheral membrane protein (By similarity). Secreted (By similarity).
    Note=The last 22 C-terminal amino acids may participate in cell membrane attachment
    HHIP_HUMAN, Q96QV1: Isoform 2: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--
    GO:0005887integral component of plasma membrane ISS11435703
    GO:0009986cell surface IEA--

    HHIP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HHIP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Basal cell carcinoma
    Basal cell carcinoma0.43
    Hedgehog signaling pathway0.43
    2Hedgehog Signaling Pathway
    Hedgehog Signaling Pathway0.32
    3Signaling events mediated by the Hedgehog family
    Signaling events mediated by the Hedgehog family
    4Pathways in cancer
    Pathways in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for HHIP
        Hedgehog Signaling Pathway
    Signaling events mediated by the Hedgehog family



    3 Kegg Pathways  (Kegg details for HHIP):
        Hedgehog signaling pathway
    Pathways in cancer
    Basal cell carcinoma


    HHIP for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HHIP: 
              Hedgehog Signaling Pathway in human mouse rat
              Liver Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HHIP

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for HHIP (Q96QV13 ENSP000002965754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHHQ154653, ENSP000002972614I2D: score=2 STRING: ENSP00000297261
    DHHO433233, ENSP000002669914I2D: score=2 STRING: ENSP00000266991
    IHHQ146233, ENSP000002957314I2D: score=2 STRING: ENSP00000295731
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0007165signal transduction ----
    GO:0007224smoothened signaling pathway IEA--
    GO:0007405neuroblast proliferation IEA--
    GO:0009887organ morphogenesis ----

    HHIP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HHIP

    1 Novoseek inferred chemical compound relationship for HHIP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostacyclin 48.2 3 18498773 (2), 18755267 (1)



    HHIP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HHIP gene: 
    NM_022475.2  

    Unigene Cluster for HHIP:

    Hedgehog interacting protein
    Hs.507991  [show with all ESTs]
    Unigene Representative Sequence: NM_022475
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296575(uc003ijs.2) ENST00000434550(uc003ijr.2) ENST00000505891
    ENST00000511314 ENST00000515080 ENST00000509630 ENST00000512791 ENST00000503090

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HHIP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HHIP (see all 14):
    hsa-miR-411* hsa-miR-3163 hsa-miR-3130-5p hsa-miR-365 hsa-miR-148b* hsa-miR-379* hsa-miR-548o hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidHHIP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HHIP
    Predesigned siRNA for gene silencing in human, mouse, rat HHIP
    Clone
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    OriGene clones in human, mouse for HHIP (see all 6)
    OriGene ORF clones in mouse, rat for HHIP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HHIP (NM_022475)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HHIP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHIP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HHIP
    OriGene qSTAR qPCR primer pairs in human, mouse for HHIP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HHIP
      QuantiTect SYBR Green Assays in human, mouse, rat HHIP
      QuantiFast Probe-based Assays in human, mouse, rat HHIP

    Additional mRNA sequence: 

    AK024645.1 AK074711.1 AK098525.1 AK291849.1 AY009317.1 AY009951.1 AY358747.1 BC009298.2 
    BC015636.2 BC025311.1 

    8 DOTS entries:

    DT.40273179  DT.100718580  DT.92431052  DT.101967163  DT.308583  DT.40314468  DT.75178479  DT.99930858 

    Selected AceView cDNA sequences (see all 91):

    BE857261 AW409843 BM989306 BQ009742 AY009317 AA570626 NM_022475 BE294659 
    AK024645 BC025311 AA723669 AX810691 BC009298 CB152359 BC015636 BP335555 
    AA156125 AW263540 AY009951 AA909334 AA380349 AK074711 AX810716 BQ446798 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HHIP (see all 7)    About this scheme

    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:                                      -                                                                                                         


    ECgene alternative splicing isoforms for HHIP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HHIP expression in normal human tissues (normalized intensities)      HHIP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGTGTCTG
    HHIP Expression
    About this image


    HHIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Zeugopod Long Bone
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
    HHIP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HHIP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.507991

    UniProtKB/Swiss-Prot: HHIP_HUMAN, Q96QV1
    Tissue specificity: Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and
    pancreas, and in fetal kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HHIP: 
              Hedgehog Signaling Pathway in human mouse rat
              Liver Cancer in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HHIP
    OriGene qSTAR qPCR primer pairs in human, mouse for HHIP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HHIP
    QuantiTect SYBR Green Assays in human, mouse, rat HHIP
    QuantiFast Probe-based Assays in human, mouse, rat HHIP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHIP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HHIP gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hhip1 , 5 Hedgehog-interacting protein1, 5 88.62(n)1
    94.29(a)1
      8 (37.95 cM)5
    152451  NM_020259.41  NP_064655.41 
     799661155 
    chicken
    (Gallus gallus)
    Aves HHIP1 hedgehog interacting protein 80.98(n)
    85.44(a)
      422460  XM_420424.4  XP_420424.4 
    lizard
    (Anolis carolinensis)
    Reptilia HHIP6
    hedgehog interacting protein
    89(a)
    1 ↔ 1
    5(118049868-118130043)
    African clawed frog
    (Xenopus laevis)
    Amphibia hhip-prov2 hedgehog interacting protein 76.91(n)    BC046952.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hhip1 hedgehog interacting protein 66.76(n)
    68.17(a)
      326102  NM_001080012.1  NP_001073481.1 


    ENSEMBL Gene Tree for HHIP (if available)
    TreeFam Gene Tree for HHIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HHIP gene
    HHIPL22  HHIPL12  
    1 SIMAP similar gene for HHIP using alignment to 1 protein entry:     HHIP_HUMAN:
    HHIPL2

    HHIP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    HHIP_HUMAN, Q96QV1: Genetic variations in HHIP define the stature quantitative trait locus 12 (STQTL12) [MIM:612226].
    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


    Selected SNPs for HHIP (see all 1952)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1455830721,2
    C--141297147(+) TGCAG-/GTGTGT
            
    GTGTG
    1 -- us2k10--------
    rs2003306601,2
    C--141297147(+) TGCAG-/GTGT  
            
    GTGTG
    1 -- us2k10--------
    rs726319381,2
    C--141342825(+) AAATC-/AT/TA 
            
    TGTGA
    1 -- int11CSA 2
    rs353566841,2
    C--141342826(+) AATCT-/ATGTGAA 1 -- int10--------
    rs798658571,2
    C--141342826(+) AATCTA/C/GTGTGA 1 -- int10--------
    rs106443151,2
    C--141344931(+) AGGAGGAG/-CCAAG 1 -- cds11Minor allele frequency- -:0.50NA 2
    rs68260511,2
    C,A--141376729(+) TGTGTA/GTATAT 1 -- int10--------
    rs726174201,2
    C--145350838(+) CTTTAA/CGTGGC 1 -- us2k14Minor allele frequency- C:0.13WA NA EA 360
    rs1498130451,2
    --145350925(+) AAATAC/TGATTT 1 -- us2k10--------
    rs1447926081,2
    C--145351047(+) AATGAG/TATGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HHIP (145567148 - 145666423 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HHIP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2578862CNV Deletion19546169

    Human Gene Mutation Database (HGMD): HHIP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HHIP
    DNA2.0 Custom Variant and Variant Library Synthesis for HHIP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606178    OMIM disorders: --

    Selected diseases for HHIP (see all 24):    About MalaCards
    combined pituitary hormone deficiency    holoprosencephaly    pulmonary function    basal cell carcinoma
    hepatoblastoma    medulloblastoma    glioblastoma multiforme    esophageal cancer
    pancreatic cancer    osteoarthritis    crohn's disease    pancreatitis
    endotheliitis    asthma    prostate cancer    prostatitis
    esophagitis    tonsillitis    adenocarcinoma    thyroiditis


    HHIP for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for HHIP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer lung 25.4 1 15294024 (1)
    pancreatic cancer 23 5 15754313 (3)
    cancer 8.5 8 17724792 (4), 15294024 (2)
    adenocarcinoma 2.01 2 17461467 (2)
    prostate cancer 1.21 1 15294024 (1)
    tumors 0 9 15294024 (4), 15482598 (2)

    Genetic Association Database (GAD): HHIP
    Human Genome Epidemiology (HuGE) Navigator: HHIP (18 documents)

    Export disorders for HHIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HHIP gene, integrated from 10 sources (see all 73):
    (articles sorted by number of sources associating them with HHIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21-->q31.3. (PubMed id 11435703)1, 2, 3, 9 Bak M.... Tommerup N. (Cytogenet. Cell Genet. 2001)
    2. The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling. (PubMed id 19561609)1, 2, 9 Bosanac I.... Lazarus R.A. (Nat. Struct. Mol. Biol. 2009)
    3. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. (PubMed id 19300482)1, 4, 9 Pillai S.G....Goldstein D.B. (PLoS Genet. 2009)
    4. Structural insights into hedgehog ligand sequestration by the human hedgehog-interacting protein HHIP. (PubMed id 19561611)1, 2, 9 Bishop B....Siebold C. (Nat. Struct. Mol. Biol. 2009)
    5. A genome-wide association study of pulmonary function measures in the Framingham Heart Study. (PubMed id 19300500)1, 4, 9 Wilk J.B....O'Connor G.T. (PLoS Genet. 2009)
    6. Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease. (PubMed id 20656943)1, 4 Pillai S.G....Silverman E.K. (Am. J. Respir. Crit. Care Med. 2010)
    7. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PubMed id 20010835)1, 4 Hancock D.B....London S.J. (Nat. Genet. 2010)
    8. Genome-wide association study identifies five loci associated with lung function. (PubMed id 20010834)1, 4 Repapi E....Tobin M.D. (Nat. Genet. 2010)
    9. Genome-wide association study of height and body mass index in Australian twin families. (PubMed id 20397748)1, 4 Liu J.Z....McRae A.F. (Twin Res Hum Genet 2010)
    10. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PubMed id 20846217)1, 4 Lee J.J....Hirschhorn J. (Ann. Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64399 HGNC: 14866 AceView: HHIP Ensembl:ENSG00000164161 euGenes: HUgn64399
    ECgene: HHIP Kegg: 64399 H-InvDB: HHIP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HHIP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HHIP gene:
    Search GeneIP for patents involving HHIP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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