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HHIPL2 Gene

protein-coding   GIFtS: 50
GCID: GC01M222695

HHIP-Like 2

(Previous name: KIAA1822-like)
(Previous symbol: KIAA1822L)
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(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
HHIP-Like 21 2
KIAA1822L1 2 3
KIAA1822-like1
Hedgehog Interacting Protein-Like 22
HHIP-Like Protein 22
HHIP33

External Ids:    HGNC: 258421   Entrez Gene: 798022   Ensembl: ENSG000001435127   UniProtKB: Q6UWX43   

Export aliases for HHIPL2 gene to outside databases

Previous GC identifers: GC01M220763 GC01M193369


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HHIPL2 Gene:
HHIPL2 (HHIP-like 2) is a protein-coding gene. GO annotations related to this gene include quinone binding and oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor. An important paralog of this gene is HHIP.


(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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the HHIPL2 gene promoter:
         MyoD   HSF1 (long)   NF-kappaB   HNF-1A   PPAR-alpha   HNF-1   Zic1   HSF1short   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHHIPL2 promoter sequence
   Search Chromatin IP Primers for HHIPL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HHIPL2


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q41

HHIPL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HHIPL2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M222695:  view genomic region     (about GC identifiers)

Start:
222,695,602 bp from pter      End:
222,721,445 bp from pter
Size:
25,844 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HIPL2_HUMAN, Q6UWX4 (See protein sequence)
Recommended Name: HHIP-like protein 2 precursor  
Size: 724 amino acids; 80779 Da
Sequence caution: Sequence=AAH15201.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH15201.1; Type=Erroneous termination; Positions=452; Note=Translated as Glu; Sequence=AAH15201.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH16552.1;
Type=Erroneous initiation; Sequence=BAB14717.1; Type=Erroneous initiation;
Secondary accessions: Q6GU65 Q96BT4 Q96BU5 Q9H8A0

Explore the universe of human proteins at neXtProt for HHIPL2: NX_Q6UWX4

Explore proteomics data for HHIPL2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn480
  • Modification sites at PhosphoSitePlus

  • See HHIPL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079022.2  
    ENSEMBL proteins: 
     ENSP00000342118  

    HHIPL2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for HHIPL2 


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

    Graphical View of Domain Structure for InterPro Entry Q6UWX4

    ProtoNet protein and cluster: Q6UWX4

    UniProtKB/Swiss-Prot: HIPL2_HUMAN, Q6UWX4
    Similarity: Belongs to the HHIP family


    Find genes that share domains with HHIPL2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0016901oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor IEA--
    GO:0048038quinone binding IEA--
         
    Find genes that share ontologies with HHIPL2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for HHIPL2:
     G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Hhipl2 (no phenotypes)

    Find genes that share phenotypes with HHIPL2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hhipl2tm1Lex for HHIPL2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HHIPL2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HHIPL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HHIPL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HHIPL2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHIPL2


    (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
    HIPL2_HUMAN, Q6UWX4: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    golgi apparatus2
    endoplasmic reticulum1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with HHIPL2           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HHIPL2
    Interactions:

        Search GeneGlobe Interaction Network for HHIPL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for HHIPL2 (ENSP000003421184) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206500ENSP000003731064STRING: ENSP00000373106
    ARTNENSP000003919984STRING: ENSP00000391998
    CACHD1ENSP000002900394STRING: ENSP00000290039
    CERS2ENSP000002716884STRING: ENSP00000271688
    ECM1ENSP000003580434STRING: ENSP00000358043
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    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--

    Find genes that share ontologies with HHIPL2           About GenesLikeMe



    (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 HHIPL2 (HIPL2)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HHIPL2 gene: 
    NM_024746.3  

    Unigene Cluster for HHIPL2:

    HHIP-like 2
    Hs.665660  [show with all ESTs]
    Unigene Representative Sequence: BC007638
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473144 ENST00000343410(uc001hnh.1) ENST00000468172 ENST00000494899

    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate HHIPL2
    SwitchGear 3'UTR luciferase reporter plasmidHHIPL2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat HHIPL2

    Additional mRNA sequence: 

    AK023902.1 AY358602.1 BC007638.1 BC015167.1 BC015201.1 BC016552.1 

    2 DOTS entries:

    DT.40125464  DT.92369219 

    16 AceView cDNA sequences:

    BC015167 AU141539 AA884860 BQ433070 BX089001 BE878716 CB157962 AA812932 
    BQ447786 BE909936 CB157610 BU186234 BI000332 AU159074 BE072810 BG949302 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HHIPL2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
    SP1:                                -     -                             -                           
    SP2:                                                                    -                           
    SP3:                                      -                                                         
    SP4:                                                                                                


    ECgene alternative splicing isoforms for HHIPL2

    (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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    HHIPL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCTGCTTG
    HHIPL2 Expression
    About this image

    HHIPL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HHIPL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.665660
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    In Situ
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    (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 eukaryotes.

    Orthologs for HHIPL2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hhipl21 , 5 hedgehog interacting protein-like 21, 5 84.73(n)1
    84.64(a)1
      15
    787721  NM_030175.41  NP_084451.21 
     1834185035 
    chicken
    (Gallus gallus)
    Aves HHIPL21 HHIP-like 2 70.35(n)
    70.85(a)
      421339  XM_419401.4  XP_419401.1 
    lizard
    (Anolis carolinensis)
    Reptilia HHIPL26
    HHIP-like 2
    66(a)
    1 ↔ 1
    1(244356181-244385967)
    African clawed frog
    (Xenopus laevis)
    Amphibia tthu-A-prov2 tail-specific thyroid hormone up-regulated (gene 5) 74.39(n)    U37373.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5603761 HHIP-like protein 2-like 64.77(n)
    67.33(a)
      560376  XM_683781.3  XP_688873.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G399701 AT5G39970 43.81(n)
    36.04(a)
      833994  NM_123360.4  NP_198813.3 


    ENSEMBL Gene Tree for HHIPL2 (if available)
    TreeFam Gene Tree for HHIPL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HHIPL2 gene
    HHIP2  HHIPL12  
    2 SIMAP similar genes for HHIPL2 using alignment to 1 protein entry:     HIPL2_HUMAN:
    HHIPL1    HHIP

    Find genes that share paralogs with HHIPL2           About GenesLikeMe



    (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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    Selected SNPs for HHIPL2 (see all 680)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114878511,2
    C,F--222695209(+) AAACTC/TCAGCC 1 -- int11Minor allele frequency- T:0.08WA 118
    rs1811481251,2
    --222695274(+) AGGCTC/GTGTGT 1 -- int10--------
    rs1870746031,2
    --222695288(+) TTAAAC/TTCTTT 1 -- int10--------
    rs1915596581,2
    --222695304(+) CTGCAA/GTACTG 1 -- int10--------
    rs668803101,2
    C,F--222695314(+) GTGGTC/ATCAGT 1 -- int14Minor allele frequency- A:0.13WA NA 242
    rs1413622611,2
    C--222695726(+) ACCAGC/TAATCT 1 -- ut310--------
    rs1841971281,2
    --222695824(+) ACCGCC/TCTGCC 1 -- ut310--------
    rs1870044371,2
    --222695829(+) CCTGCC/TCCACC 1 -- ut310--------
    rs3754499291,2
    C--222695924(+) CTGTCA/GGCCAC 1 -- ut310--------
    rs617393711,2
    C,F--222696004(+) TGTGGC/ATTTTC 2 /S /I mis15Minor allele frequency- A:0.02NS WA NA EU 5991

    HapMap Linkage Disequilibrium report for HHIPL2 (222695602 - 222721445 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HHIPL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873205CNV Loss21882294
    nsv873203CNV Gain21882294

    Human Gene Mutation Database (HGMD): HHIPL2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HHIPL2
    DNA2.0 Custom Variant and Variant Library Synthesis for HHIPL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with HHIPL2           About GenesLikeMe

    Genetic Association Database (GAD): HHIPL2
    Human Genome Epidemiology (HuGE) Navigator: HHIPL2 (1 document)

    Export disorders for HHIPL2 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 HHIPL2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with HHIPL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Iron excess limits HHIPL-2 gene expression and decreases osteoblastic activity in human MG-63 cells. (PubMed id 22237814)1 Doyard M....Guggenbuhl P. (Osteoporos Int 2012)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. Comparative genomics on HHIP family orthologs. (PubMed id 16391842)2 Katoh Y. and Katoh M. (Int. J. Mol. Med. 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79802 HGNC: 25842 AceView: FLJ13840.1 Ensembl:ENSG00000143512 euGenes: HUgn79802
    ECgene: HHIPL2 H-InvDB: HHIPL2

    (According to HUGE)
    About This Section

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    HUGE: KIAA1822L KIAA1822-like

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HHIPL2 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 HHIPL2 gene:
    Search GeneIP for patents involving HHIPL2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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