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

Gene ID: 170680, updated on 24-Nov-2020

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
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
Expression
Restricted expression toward skin (RPKM 17.2) See more
Orthologs

Genomic context

See PSORS1C2 in Genome Data Viewer
Location:
6p21.33
Exon count:
2
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31137534..31139066, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31105311..31107127, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 15 Neighboring gene psoriasis susceptibility 1 candidate 1 Neighboring gene corneodesmosin Neighboring gene RNA polymerase II subunit L pseudogene 1 Neighboring gene coiled-coil alpha-helical rod protein 1

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

Associated conditions

Description Tests
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
GeneReviews: Not available
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
GeneReviews: Not available
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available
Multiple loci are associated with white blood cell phenotypes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
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)

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
    Q9UIG4
    UniProtKB/TrEMBL
    A0A1U9X9A6
    Related
    ENSP00000259845.4, ENST00000259845.5
    Conserved Domains (1) summary
    pfam15356
    Location:23136
    SPR1; Psoriasis susceptibility locus 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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