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 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
Regulatory Element Products
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:
-
- 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
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
- 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
-
OriGene Purified Proteins for SCP2D1
- Search Origene for MassSpec and Protein Over-expression Lysates for SCP2D1
- Origene Custom Protein Services for SCP2D1
- Search GeneTex for Proteins for SCP2D1
Assay Products
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- Domain:
-
- Contains 1 SCP2 domain.
No data available for Gene Families and Suggested Antigen Peptide Sequences 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
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SCP2D1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SCP2D1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SCP2D1 gene
- Search ViGene Biosciences for SCP2D1
CRISPR Products
-
OriGene CRISPR knockouts for SCP2D1
- GenScript: Design CRISPR guide RNA sequences for SCP2D1
miRNA for SCP2D1 Gene
- miRTarBase miRNAs that target SCP2D1
miRNA Products
- Search ViGene Biosciences for SCP2D1
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SCP2D1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCP2D1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for SCP2D1
-
ViGene Biosciences adenoviral particle packaged cDNA for SCP2D1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SCP2D1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SCP2D1 gene
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
| Compartment | Confidence |
|---|---|
| peroxisome | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 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
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
- GenScript: Design CRISPR guide RNA sequences for SCP2D1
miRNA Products
- Search ViGene Biosciences for SCP2D1
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SCP2D1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCP2D1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
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
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SCP2D1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SCP2D1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SCP2D1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Scp2d1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Scp2d1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SCP2D1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SCP2D1 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | hsd17b4 35 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | Mfe2 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | maoc-1 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FOX2 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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 | 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| d-bifunctional protein deficiency |
|
|
| corneal dystrophy, posterior polymorphous, 1 |
|
|
Search SCP2D1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for SCP2D1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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. (J. Mol. Evol. 2006) 2 3 64
- 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
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
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- Browse ELISAs
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- OriGene Purified Proteins for SCP2D1
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- Origene Custom Protein Services for SCP2D1
- Origene rat_shrna, siRNA, mouse_rna, shRNA, and RNAi products in human, mouse, rat for SCP2D1
- Browse OriGene Inhibitory RNA Products For SCP2D1
- OriGene qPCR primer pairs for SCP2D1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA clones in your preferred vector
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- GenScript: Design CRISPR guide RNA sequences for SCP2D1
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- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for SCP2D1
- Novus Biologicals proteins and lysates for SCP2D1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ViGene Biosciences adenoviral particle packaged cDNA for SCP2D1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SCP2D1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SCP2D1 gene
- Search ViGene Biosciences for SCP2D1
- Horizon Cell Lines for SCP2D1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SCP2D1
- VectorBuilder custom plasmid, inducible vectors for SCP2D1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SCP2D1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (128) Genetics Home Reference
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- (135) Gene Damage Index
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- (141) ENCODE
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- (143) Horizon
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
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