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    HHIPL2 HHIP like 2 [ Homo sapiens (human) ]

    Gene ID: 79802, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HHIPL2provided by HGNC
    Official Full Name
    HHIP like 2provided by HGNC
    Primary source
    HGNC:HGNC:25842
    See related
    Ensembl:ENSG00000143512 MIM:620214; AllianceGenome:HGNC:25842
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1822L
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 5.8), bone marrow (RPKM 3.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HHIPL2 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222522264..222548104, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (221743962..221788223, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222695606..222721446, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904519 Neighboring gene RNA, U6 small nuclear 791, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:222699854-222700038 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2576 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:222763242-222763775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:222763776-222764308 Neighboring gene TAF1A antisense RNA 1 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:222791257-222792139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2577 Neighboring gene MIA SH3 domain ER export factor 3 Neighboring gene prefoldin subunit 5-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:222816645-222817522 and GRCh37_chr1:222817523-222818398

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Iron excess limits HHIPL-2 gene expression and decreases osteoblastic activity in human MG-63 cells. Doyard M, et al. Osteoporos Int, 2012 Oct. PMID 22237814
    2. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    3. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HHIPL-2 was identified as a candidate gene involved in iron-related modulation of osteoblast markers.
      Title: Iron excess limits HHIPL-2 gene expression and decreases osteoblastic activity in human MG-63 cells.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13840

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    HHIP-like protein 2
    Names
    hedgehog interacting protein-like 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024746.4 → NP_079022.2  HHIP-like protein 2 precursor

      See identical proteins and their annotated locations for NP_079022.2

      Status: VALIDATED

      Source sequence(s)
      AL592148, AY358602, BC016552, DA868891
      Consensus CDS
      CCDS1530.2
      UniProtKB/Swiss-Prot
      Q6GU65, Q6UWX4, Q96BT4, Q96BU5, Q9H8A0
      Related
      ENSP00000342118.6, ENST00000343410.7
      Conserved Domains (2) summary
      pfam03024
      Location:44 → 182
      Folate_rec; Folate receptor family
      pfam07995
      Location:216 → 464
      GSDH; Glucose / Sorbosone dehydrogenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      222522264..222548104 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449814.2 → XP_024305582.1  HHIP-like protein 2 isoform X1

      Conserved Domains (2) summary
      pfam03024
      Location:44 → 182
      Folate_rec; Folate receptor family
      cl26817
      Location:216 → 464
      GSDH; Glucose / Sorbosone dehydrogenase

    2. XM_011509986.2 → XP_011508288.1  HHIP-like protein 2 isoform X2

      Conserved Domains (2) summary
      pfam03024
      Location:44 → 182
      Folate_rec; Folate receptor family
      pfam07995
      Location:216 → 464
      GSDH; Glucose / Sorbosone dehydrogenase

    RNA

    1. XR_007063703.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      221743962..221788223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338770.1 → XP_054194745.1  HHIP-like protein 2 isoform X4

    2. XM_054338768.1 → XP_054194743.1  HHIP-like protein 2 isoform X3

    3. XM_054338767.1 → XP_054194742.1  HHIP-like protein 2 isoform X1

    4. XM_054338769.1 → XP_054194744.1  HHIP-like protein 2 isoform X2

    5. XM_054338771.1 → XP_054194746.1  HHIP-like protein 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWX4.1 GenPept UniProtKB/Swiss-Prot:Q6UWX4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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