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Aliases for PSORS1C2 Gene

Aliases for PSORS1C2 Gene

  • Psoriasis Susceptibility 1 Candidate 2 2 3 5
  • C6orf17 3 4
  • SPR1 3 4
  • Psoriasis Susceptibility 1 Candidate Gene 2 Protein 3
  • Chromosome 6 Open Reading Frame 17 2
  • Protein SPR1 4

External Ids for PSORS1C2 Gene

Previous HGNC Symbols for PSORS1C2 Gene

  • C6orf17

Previous GeneCards Identifiers for PSORS1C2 Gene

  • GC00U991168
  • GC06U900362
  • GC06M031211
  • GC06M031213
  • GC06M030907

Summaries for PSORS1C2 Gene

GeneCards Summary for PSORS1C2 Gene

PSORS1C2 (Psoriasis Susceptibility 1 Candidate 2) is a Protein Coding gene. Diseases associated with PSORS1C2 include Psoriasis Susceptibility 1 and Psoriasis.

Additional gene information for PSORS1C2 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 PSORS1C2 Gene

Genomics for PSORS1C2 Gene

Regulatory Elements for PSORS1C2 Gene

Enhancers for PSORS1C2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H031196 1.4 ENCODE dbSUPER 32.1 -58.5 -58548 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PSORS1C3 ENSG00000272501 POU5F1 PSORS1C2 PRRT1 HLA-C GNL1 EHMT2 CCHCR1 LY6G5B
GH06H031185 1.5 Ensembl ENCODE dbSUPER 29.9 -47.2 -47199 2 PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 MXD4 NFYC TSHZ1 ENSG00000272501 PSORS1C3 POU5F1 PSORS1C2 CCHCR1 PSORS1C1 MICB MICA HCG22 HLA-C
GH06H031137 1.3 Ensembl ENCODE 29.1 +1.6 1649 0 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 ZNF2 GLIS2 ZNF143 ATF7 PSORS1C2 PSORS1C1 HCG18 HCG27 ZBTB12 RPP21 PRR3 GTF2H4 DXO HLA-C
GH06H031202 1.3 ENCODE dbSUPER 26.6 -65.0 -64974 4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 PSORS1C3 ENSG00000272501 HLA-C PSORS1C2 POU5F1 PSORS1C1 MICB MICA-AS1 SKIV2L ENSG00000271821
GH06H031269 1.6 FANTOM5 ENCODE dbSUPER 20 -132.1 -132112 4 HDGF PKNOX1 ATF1 ARID4B SIN3A GLI4 ZNF2 YY1 ZNF121 GLIS2 HLA-C PSORS1C3 PPT2 TNXB LSM2 PSORS1C2 HCG18 HCG27 ENSG00000229836 TCF19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSORS1C2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PSORS1C2 Gene

Chromosome:
6
Start:
31,137,534 bp from pter
End:
31,139,350 bp from pter
Size:
1,817 bases
Orientation:
Minus strand

Genomic View for PSORS1C2 Gene

Genes around PSORS1C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSORS1C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSORS1C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PSORS1C2 Gene

  • Protein details for PSORS1C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIG4-PS1C2_HUMAN
    Recommended name:
    Psoriasis susceptibility 1 candidate gene 2 protein
    Protein Accession:
    Q9UIG4
    Secondary Accessions:
    • Q5STD0

    Protein attributes for PSORS1C2 Gene

    Size:
    136 amino acids
    Molecular mass:
    15101 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PSORS1C2 Gene

Post-translational modifications for PSORS1C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PSORS1C2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PSORS1C2 Gene

Domains & Families for PSORS1C2 Gene

Gene Families for PSORS1C2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PSORS1C2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSORS1C2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PSORS1C2: view

No data available for UniProtKB/Swiss-Prot for PSORS1C2 Gene

Function for PSORS1C2 Gene

Phenotypes From GWAS Catalog for PSORS1C2 Gene

Gene Ontology (GO) - Molecular Function for PSORS1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with PSORS1C2: view
genes like me logo Genes that share phenotypes with PSORS1C2: view

Animal Model Products

CRISPR Products

miRNA for PSORS1C2 Gene

miRTarBase miRNAs that target PSORS1C2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSORS1C2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSORS1C2 Gene

Localization for PSORS1C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSORS1C2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 PSORS1C2 gene
Compartment Confidence
extracellular 5
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for PSORS1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PSORS1C2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PSORS1C2 Gene

Pathways & Interactions for PSORS1C2 Gene

SuperPathways for PSORS1C2 Gene

No Data Available

Interacting Proteins for PSORS1C2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000259845%0d%0a9606.ENSP00000301607%0d%0a
Selected Interacting proteins: ENSP00000259845 Q9UIG4-PS1C2_HUMAN for PSORS1C2 Gene via STRING UniProtKB IID

Gene Ontology (GO) - Biological Process for PSORS1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PSORS1C2: view

No data available for Pathways by source and SIGNOR curated interactions for PSORS1C2 Gene

Drugs & Compounds for PSORS1C2 Gene

No Compound Related Data Available

Transcripts for PSORS1C2 Gene

mRNA/cDNA for PSORS1C2 Gene

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

Unigene Clusters for PSORS1C2 Gene

Psoriasis susceptibility 1 candidate 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSORS1C2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PSORS1C2 Gene

No ASD Table

Relevant External Links for PSORS1C2 Gene

GeneLoc Exon Structure for
PSORS1C2
ECgene alternative splicing isoforms for
PSORS1C2

Expression for PSORS1C2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSORS1C2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSORS1C2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x30.0) and Skin - Sun Exposed (Lower leg) (x12.0).

NURSA nuclear receptor signaling pathways regulating expression of PSORS1C2 Gene:

PSORS1C2

SOURCE GeneReport for Unigene cluster for PSORS1C2 Gene:

Hs.146824

mRNA Expression by UniProt/SwissProt for PSORS1C2 Gene:

Q9UIG4-PS1C2_HUMAN
Tissue specificity: Expressed in skin. Also expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for PSORS1C2 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with PSORS1C2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSORS1C2 Gene

Orthologs for PSORS1C2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PSORS1C2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSORS1C2 33 34
  • 98.28 (n)
dog
(Canis familiaris)
Mammalia PSORS1C2 33 34
  • 85.54 (n)
cow
(Bos Taurus)
Mammalia PSORS1C2 34
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psors1c2 33 16 34
  • 79.26 (n)
rat
(Rattus norvegicus)
Mammalia Psors1c2 33
  • 77.11 (n)
oppossum
(Monodelphis domestica)
Mammalia PSORS1C2 34
  • 70 (a)
OneToOne
Species where no ortholog for PSORS1C2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PSORS1C2 Gene

ENSEMBL:
Gene Tree for PSORS1C2 (if available)
TreeFam:
Gene Tree for PSORS1C2 (if available)

Paralogs for PSORS1C2 Gene

(1) SIMAP similar genes for PSORS1C2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PSORS1C2: view

No data available for Paralogs for PSORS1C2 Gene

Variants for PSORS1C2 Gene

Sequence variations from dbSNP and Humsavar for PSORS1C2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000289720 -- 31,139,431(+) AGCAC(C/T)GTAAT intron-variant, upstream-variant-2KB
rs1002599159 -- 31,137,039(+) GCTAC(G/T)CAGAA intron-variant
rs1002935858 -- 31,137,417(+) CCACT(C/G)TACTC intron-variant
rs1006840016 -- 31,137,759(+) TGAGG(A/T)CTAAG intron-variant, utr-variant-3-prime
rs1006856372 -- 31,137,462(+) AAAAG(-/A)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSORS1C2 Gene

Variant ID Type Subtype PubMed ID
esv2731791 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv33699 CNV loss 17666407
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv524061 CNV loss 19592680
nsv525933 CNV loss 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781

Variation tolerance for PSORS1C2 Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.23; 76.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSORS1C2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSORS1C2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSORS1C2 Gene

Disorders for PSORS1C2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSORS1C2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
psoriasis susceptibility 1
  • psoriasis
psoriasis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PSORS1C2

Genetic Association Database (GAD)
PSORS1C2
Human Genome Epidemiology (HuGE) Navigator
PSORS1C2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSORS1C2
genes like me logo Genes that share disorders with PSORS1C2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSORS1C2 Gene

Publications for PSORS1C2 Gene

  1. Polymorphisms in the SEEK1 and SPR1 genes on 6p21.3 associate with psoriasis in the Swedish population. (PMID: 12930300) Holm SJ … O'Brien KP (Experimental dermatology 2003) 3 4 22 60
  2. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. (PMID: 21750679) Allanore Y … Martinez M (PLoS genetics 2011) 3 45 60
  3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 45 60
  4. SPR1 gene near HLA-C is unlikely to be a psoriasis susceptibility gene. (PMID: 12823445) Chang YT … Wang WJ (Experimental dermatology 2003) 3 22 60
  5. Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. (PMID: 10545595) Oka A … Inoko H (Human molecular genetics 1999) 3 4 60

Products for PSORS1C2 Gene

Sources for PSORS1C2 Gene

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