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    LDLRAD2 low density lipoprotein receptor class A domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 401944, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LDLRAD2provided by HGNC
    Official Full Name
    low density lipoprotein receptor class A domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:32071
    See related
    Ensembl:ENSG00000187942 AllianceGenome:HGNC:32071
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in fat (RPKM 52.2), gall bladder (RPKM 13.0) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LDLRAD2 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (21812265..21825225)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21636207..21649033)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22138758..22151718)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21928741-21928970 Neighboring gene Sharpr-MPRA regulatory region 12165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21937517-21938264 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21939576-21939868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21945135-21945976 Neighboring gene RAP1 GTPase activating protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21958265-21959233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21960338-21961086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21961087-21961835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21966135-21966964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21977615-21978365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21992551-21993051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 387 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:21996570-21997769 Neighboring gene ubiquitin specific peptidase 48 Neighboring gene uncharacterized LOC124904736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:22099067-22099566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 337 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22108688-22109459 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22109460-22110230 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22112153-22112327 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22137244-22137394 Neighboring gene Sharpr-MPRA regulatory region 6146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22148116-22148982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22168222-22168722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22170194-22170694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22174882-22175382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22175383-22175883 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 Neighboring gene heparan sulfate proteoglycan 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191053-22191858 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191859-22192664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22235910-22236626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22236627-22237342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22237343-22238058 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22241885-22242040 Neighboring gene Sharpr-MPRA regulatory region 4422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22246290-22246830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22247372-22247912 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22248108-22248275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22248994-22249533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22254196-22254752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22254753-22255307 Neighboring gene ribosomal protein L21 pseudogene 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22258036-22258798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22262253-22263094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22271072-22271789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22288389-22289052 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22290537-22290804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22312621-22313122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22313123-22313622 Neighboring gene RNA, 7SL, cytoplasmic 386, pseudogene Neighboring gene chymotrypsin like elastase 3B

    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. LDLRAD2 promotes pancreatic cancer progression through Akt/mTOR signaling pathway. Li J, et al. Med Oncol, 2021 Jan 3. PMID 33392788
    2. Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. Meng X, et al. J Biol Chem, 2012 Feb 10. PMID 22199357, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LDLRAD2 promotes pancreatic cancer progression through Akt/mTOR signaling pathway.
      Title: LDLRAD2 promotes pancreatic cancer progression through Akt/mTOR signaling pathway.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    low-density lipoprotein receptor class A domain-containing protein 2
    Names
    low density lipoprotein receptor A domain containing 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_001013693.3 → NP_001013715.2  low-density lipoprotein receptor class A domain-containing protein 2 precursor

      See identical proteins and their annotated locations for NP_001013715.2

      Status: VALIDATED

      Source sequence(s)
      AL590103
      Consensus CDS
      CCDS30624.1
      UniProtKB/Swiss-Prot
      B9EJB3, Q5SZI1, Q6ZSN5
      Related
      ENSP00000340988.2, ENST00000344642.7
      Conserved Domains (2) summary
      cd00112
      Location:176 → 204
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl00049
      Location:60 → 152
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

    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
      21812265..21825225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      21636207..21649033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SZI1.1 GenPept UniProtKB/Swiss-Prot:Q5SZI1

    Gene LinkOut

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

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