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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 D-Bifunctional Protein Deficiency and Corneal Dystrophy, Posterior Polymorphous, 1. An important paralog of this gene is HSD17B4.

No data available for Entrez Gene 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

Genomic Location for SCP2D1 Gene

Chromosome:
20
Start:
18,813,726 bp from pter
End:
18,814,392 bp from pter
Size:
667 bases
Orientation:
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

No data available for Regulatory Elements for SCP2D1 Gene

Proteins for SCP2D1 Gene

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

    Protein Symbol:
    Q9UJQ7-SCP2D_HUMAN
    Recommended name:
    SCP2 sterol-binding domain-containing protein 1
    Protein Accession:
    Q9UJQ7
    Secondary Accessions:
    • Q548A4

    Protein attributes for SCP2D1 Gene

    Size:
    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

Protein Domains for SCP2D1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UJQ7

UniProtKB/Swiss-Prot:

SCP2D_HUMAN :
  • Contains 1 SCP2 domain.
Domain:
  • Contains 1 SCP2 domain.
genes like me logo Genes that share domains with SCP2D1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences 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

Animal Model Products

miRNA for SCP2D1 Gene

miRTarBase miRNAs that target SCP2D1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for SCP2D1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCP2D1 Gene COMPARTMENTS Subcellular localization image for SCP2D1 gene
Compartment Confidence
peroxisome 3
cytosol 2
mitochondrion 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SCP2D1 Gene

GeneLoc Exon Structure for
SCP2D1
ECgene alternative splicing isoforms for
SCP2D1

Expression for SCP2D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

SCP2D1

SOURCE GeneReport for Unigene cluster for SCP2D1 Gene:

Hs.112794
genes like me logo Genes that share expression patterns with SCP2D1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia SCP2D1 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia SCP2D1 34 35
  • 88.68 (n)
cow
(Bos Taurus)
Mammalia SCP2D1 34 35
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Scp2d1 34
  • 79.49 (n)
mouse
(Mus musculus)
Mammalia Scp2d1 34 16 35
  • 78.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SCP2D1 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCP2D1 35
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hsd17b4 35
  • 9 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mfe2 35
  • 2 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maoc-1 35
  • 3 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 35
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 7 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SCP2D1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1053834 -- 18,814,070(+) TGGAC(C/T)ATTGA intron-variant, reference, synonymous-codon
rs1053839 -- 18,814,110(+) CGGGA(C/T)CTGCC intron-variant, reference, missense
rs111909342 -- 18,814,424(+) TTCCT(A/G)TTGAT intron-variant
rs113733579 -- 18,812,923(+) GCACA(C/T)GCCGT intron-variant, upstream-variant-2KB
rs113948702 -- 18,814,395(+) AAATT(C/T)TTCCT intron-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)

Relevant External Links for SCP2D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCP2D1

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
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
corneal dystrophy, posterior polymorphous, 1
  • corneal endothelial dystrophy 1, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SCP2D1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Mol. Evol. 2006) 2 3 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  4. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. (PMID: 16385454) Ferdinandusse S. … Glumoff T. (Am. J. Hum. Genet. 2006) 22 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for SCP2D1 Gene

Sources for SCP2D1 Gene

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