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    PSORS1C2 psoriasis susceptibility 1 candidate 2 [ Homo sapiens (human) ]

    Gene ID: 170680, updated on 17-Jun-2024

    Summary

    Official Symbol
    PSORS1C2provided by HGNC
    Official Full Name
    psoriasis susceptibility 1 candidate 2provided by HGNC
    Primary source
    HGNC:HGNC:17199
    See related
    Ensembl:ENSG00000204538 MIM:613526; AllianceGenome:HGNC:17199
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPR1; C6orf17
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward skin (RPKM 17.2) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PSORS1C2 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31137534..31139066, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31005228..31006760, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31105311..31106843, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31084517-31085386 Neighboring gene psoriasis susceptibility 1 candidate 1 Neighboring gene corneodesmosin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31093168-31093768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31093769-31094369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31094370-31094969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31105363-31106343 Neighboring gene RNA polymerase II subunit L pseudogene 1 Neighboring gene coiled-coil alpha-helical rod protein 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31123471-31124086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31124820-31125320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31125321-31125821

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    psoriasis susceptibility 1 candidate gene 2 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014069.3NP_054788.2  psoriasis susceptibility 1 candidate gene 2 protein precursor

      See identical proteins and their annotated locations for NP_054788.2

      Status: VALIDATED

      Source sequence(s)
      AF484420, AL662844
      Consensus CDS
      CCDS4694.1
      UniProtKB/Swiss-Prot
      Q5STD0, Q9UIG4
      UniProtKB/TrEMBL
      A0A1U9X9A6, Q5SQ83
      Related
      ENSP00000259845.4, ENST00000259845.5
      Conserved Domains (1) summary
      pfam15356
      Location:23136
      SPR1; Psoriasis susceptibility locus 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31137534..31139066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2619927..2621459 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2396864..2398396 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2448059..2449591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2481671..2483203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2395562..2397092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31005228..31006760 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)