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HHIPL2 HHIP like 2 [ Homo sapiens (human) ]

Gene ID: 79802, updated on 5-Mar-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 enable catalytic activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 5.8), bone marrow (RPKM 3.9) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222522264..222548104, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (221743962..221788223, complement)
105.20220307 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
  • 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. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
  3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  4. 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
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (10) 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_2023_10

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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