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    SCP2D1 SCP2 sterol binding domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 140856, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SCP2D1provided by HGNC
    Official Full Name
    SCP2 sterol binding domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:16211
    See related
    Ensembl:ENSG00000132631 AllianceGenome:HGNC:16211
    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
    HSD22; C20orf79; dJ1068E13.2
    Summary
    Predicted to enable sterol binding activity. Predicted to be involved in phospholipid transport; positive regulation of intracellular cholesterol transport; and steroid biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    mouse all
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    Genomic context

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    See SCP2D1 in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (18813783..18814378)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (18865625..18866220)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (18794427..18795022)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:18774369-18774908 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 34 Neighboring gene long intergenic non-protein coding RNA 652 Neighboring gene SCP2D1 antisense RNA 1 Neighboring gene lysosome cell death regulator Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:18897388-18898587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17595 Neighboring gene uncharacterized LOC102724734 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:19028509-19029708 Neighboring gene uncharacterized LOC107985442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:19077722-19078921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12704 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:19188093-19188651 Neighboring gene uncharacterized LOC101929547

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Fusion and fission, the evolution of sterol carrier protein-2. Edqvist J, et al. J Mol Evol, 2006 Mar. PMID 16501878
    2. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. 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

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • MGC138229

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    SCP2 sterol-binding domain-containing protein 1
    Names
    sterol carrier protein 2-like protein

    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_178483.3 → NP_848578.1  SCP2 sterol-binding domain-containing protein 1

      See identical proteins and their annotated locations for NP_848578.1

      Status: VALIDATED

      Source sequence(s)
      AF418570
      Consensus CDS
      CCDS13139.1
      UniProtKB/Swiss-Prot
      Q548A4, Q9UJQ7
      UniProtKB/TrEMBL
      Q6X959
      Related
      ENSP00000366645.2, ENST00000377428.4
      Conserved Domains (1) summary
      pfam02036
      Location:60 → 151
      SCP2; SCP-2 sterol transfer family

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      18813783..18814378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      18865625..18866220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJQ7.1 GenPept UniProtKB/Swiss-Prot:Q9UJQ7

    Gene LinkOut

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

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