Aliases for SCP2D1 Gene
Aliases for SCP2D1 Gene
External Ids for SCP2D1 Gene
- HGNC: 16211
- Entrez Gene: 140856
- Ensembl: ENSG00000132631
- UniProtKB: Q9UJQ7
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 Score |
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
Regulatory Element Products
Genomic Locations for SCP2D1 Gene
Genomic Locations for SCP2D1 Gene
- chr20:18,813,726-18,814,392
- (GRCh38/hg38)
- Size:
- 667 bases
- Orientation:
- Plus strand
- chr20:18,794,370-18,795,036
- (GRCh37/hg19)
Genomic View for SCP2D1 Gene
Genes around SCP2D1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p11.23 by Ensembl
- 20p11.23 by Entrez Gene
- 20p11.23 by HGNC
SCP2D1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- Q548A4
Protein attributes for SCP2D1 Gene
- Size:
- 156 amino acids
- Molecular mass:
- 17663 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for SCP2D1 Gene
No Post-translational modifications
Other Protein References for SCP2D1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Protein Products
-
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-
Abcam proteins for SCP2D1
Assay Products
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
- InterPro:
- Blocks:
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SCP2D1 Gene
Function for SCP2D1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015248 | sterol transporter activity | IBA | -- |
| GO:0032934 | sterol binding | IBA | -- |
Phenotypes for SCP2D1 Gene
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-
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CRISPR Products
-
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- genomics-online: gRNA clones - Search results for 59 available SCP2D1 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for SCP2D1 Gene
- miRTarBase miRNAs that target SCP2D1
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-
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Clone Products
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-
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-
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-
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-
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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
| 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
No Data Available
Interacting Proteins 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 | -- |
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
CRISPR Products
-
OriGene CRISPR knockouts for SCP2D1
- genomics-online: gRNA clones - Search results for 59 available SCP2D1 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SCP2D1
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miRNA Products
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Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 59 available SCP2D1 gene related products
- Overview of 59 available SCP2D1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SCP2D1 gene
Clone Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SCP2D1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Mature Sertoli Cells Seminiferous Tubules
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:
SCP2D1SOURCE GeneReport for Unigene cluster for SCP2D1 Gene:
Hs.112794Primer Products
-
OriGene qPCR primer pairs for SCP2D1
- genomics-online: primer clones - Search results for 59 available SCP2D1 gene related products
- Overview of 59 available SCP2D1 gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SCP2D1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SCP2D1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SCP2D1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Scp2d1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Scp2d1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SCP2D1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SCP2D1 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | hsd17b4 34 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | Mfe2 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | maoc-1 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FOX2 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for SCP2D1 Gene
Variants 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 |
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
- SCP2D1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCP2D1 Gene
Disorders for SCP2D1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corneal dystrophy, posterior polymorphous, 1 |
|
|
| d-bifunctional protein deficiency |
|
|
Search SCP2D1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SCP2D1
No data available for UniProtKB/Swiss-Prot and Genatlas for SCP2D1 Gene
Publications for SCP2D1 Gene
- Fusion and fission, the evolution of sterol carrier protein-2. (PMID: 16501878) Edqvist J … Blomqvist K (Journal of molecular evolution 2006) 2 3 58
- 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
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
- 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
- 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
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Sources for SCP2D1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (24) DrugBank
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- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
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- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
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- (154) HumanCyc
- (155) genomics-online
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