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

Gene ID: 140856, updated on 26-Nov-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 be active in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (18813783..18814378)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (18865625..18866220)
RS_2024_09 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)

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
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_2024_08

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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