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Aliases for SCP2D1 Gene

Aliases for SCP2D1 Gene

  • SCP2 Sterol Binding Domain Containing 1 2 3 5
  • Sterol Carrier Protein 2-Like Protein 2 3
  • C20orf79 3 4
  • SCP2 Sterol-Binding Domain-Containing Protein 1 3
  • SCP2 Sterol-Binding Domain Containing 1 2
  • Chromosome 20 Open Reading Frame 79 2
  • DJ1068E13.2 3
  • HSD22 3

External Ids for SCP2D1 Gene

Previous HGNC Symbols for SCP2D1 Gene

  • C20orf79

Summaries for SCP2D1 Gene

GeneCards Summary for SCP2D1 Gene

SCP2D1 (SCP2 Sterol Binding Domain Containing 1) is a Protein Coding gene. Diseases associated with SCP2D1 include Corneal Dystrophy, Posterior Polymorphous, 1 and D-Bifunctional Protein Deficiency. An important paralog of this gene is HSD17B4.

Additional gene information for SCP2D1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCP2D1 Gene

Genomics for SCP2D1 Gene

GeneHancer (GH) Regulatory Elements for SCP2D1 Gene

Promoters and enhancers for SCP2D1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I018813 Promoter 0.5 EPDnew 550.8 +0.0 38 0.1 SCP2D1 C20orf78
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCP2D1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SCP2D1 Gene

Genomic Locations for SCP2D1 Gene
667 bases
Plus strand

Genomic View for SCP2D1 Gene

Genes around SCP2D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCP2D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCP2D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCP2D1 Gene

Proteins for SCP2D1 Gene

  • Protein details for SCP2D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    SCP2 sterol-binding domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q548A4

    Protein attributes for SCP2D1 Gene

    156 amino acids
    Molecular mass:
    17663 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SCP2D1 Gene

Post-translational modifications for SCP2D1 Gene

No Post-translational modifications

Other Protein References for SCP2D1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SCP2D1 Gene

Domains & Families for SCP2D1 Gene

Gene Families for SCP2D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SCP2D1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SCP2D1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SCP2D1 Gene

Function for SCP2D1 Gene

Gene Ontology (GO) - Molecular Function for SCP2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015248 sterol transporter activity IBA --
GO:0032934 sterol binding IBA --
genes like me logo Genes that share ontologies with SCP2D1: view
genes like me logo Genes that share phenotypes with SCP2D1: view

miRNA for SCP2D1 Gene

miRTarBase miRNAs that target SCP2D1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCP2D1 Gene

Localization for SCP2D1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCP2D1 gene
Compartment Confidence
peroxisome 3
mitochondrion 2
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SCP2D1 Gene

Pathways & Interactions for SCP2D1 Gene

SuperPathways for SCP2D1 Gene

No Data Available

Interacting Proteins for SCP2D1 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
Selected Interacting proteins: ENSP00000366645 for SCP2D1 Gene via STRING

Gene Ontology (GO) - Biological Process for SCP2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IBA --
GO:0015914 phospholipid transport IBA --
GO:0030301 cholesterol transport IBA --
genes like me logo Genes that share ontologies with SCP2D1: view

No data available for Pathways by source and SIGNOR curated interactions for SCP2D1 Gene

Drugs & Compounds for SCP2D1 Gene

No Compound Related Data Available

Transcripts for SCP2D1 Gene

mRNA/cDNA for SCP2D1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(27) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCP2D1 Gene

SCP2 sterol-binding domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SCP2D1 Gene

No ASD Table

Relevant External Links for SCP2D1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SCP2D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCP2D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCP2D1 Gene

This gene is overexpressed in Testis (x52.8).

NURSA nuclear receptor signaling pathways regulating expression of SCP2D1 Gene:


SOURCE GeneReport for Unigene cluster for SCP2D1 Gene:

genes like me logo Genes that share expression patterns with SCP2D1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCP2D1 Gene

Orthologs for SCP2D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SCP2D1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SCP2D1 33 34
  • 99.36 (n)
(Canis familiaris)
Mammalia SCP2D1 33 34
  • 88.68 (n)
(Bos Taurus)
Mammalia SCP2D1 33 34
  • 83.33 (n)
(Rattus norvegicus)
Mammalia Scp2d1 33
  • 79.49 (n)
(Mus musculus)
Mammalia Scp2d1 33 16 34
  • 78.63 (n)
(Monodelphis domestica)
Mammalia SCP2D1 34
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia SCP2D1 34
  • 52 (a)
(Danio rerio)
Actinopterygii hsd17b4 34
  • 9 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mfe2 34
  • 2 (a)
(Caenorhabditis elegans)
Secernentea maoc-1 34
  • 3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 34
  • 3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 7 (a)
Species where no ortholog for SCP2D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SCP2D1 Gene

Gene Tree for SCP2D1 (if available)
Gene Tree for SCP2D1 (if available)

Paralogs for SCP2D1 Gene

Paralogs for SCP2D1 Gene

(1) SIMAP similar genes for SCP2D1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SCP2D1: view

Variants for SCP2D1 Gene

Sequence variations from dbSNP and Humsavar for SCP2D1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000645701 -- 18,813,488(+) A/G upstream_transcript_variant
rs1000709317 -- 18,814,507(+) T/C downstream_transcript_variant
rs1000782543 -- 18,813,068(+) G/A upstream_transcript_variant
rs1001933043 -- 18,814,506(+) TTTTTTT/TTTTTTTT downstream_transcript_variant
rs1001985780 -- 18,813,093(+) G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SCP2D1 Gene

Variant ID Type Subtype PubMed ID
nsv833934 CNV loss 17160897

Variation tolerance for SCP2D1 Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.62; 72.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCP2D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCP2D1 Gene

Disorders for SCP2D1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SCP2D1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, posterior polymorphous, 1
  • ppcd1
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SCP2D1

genes like me logo Genes that share disorders with SCP2D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCP2D1 Gene

Publications for SCP2D1 Gene

  1. Fusion and fission, the evolution of sterol carrier protein-2. (PMID: 16501878) Edqvist J … Blomqvist K (Journal of molecular evolution 2006) 2 3 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  4. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. (PMID: 16385454) Ferdinandusse S … Glumoff T (American journal of human genetics 2006) 22 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for SCP2D1 Gene

Sources for SCP2D1 Gene

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