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PSORS1C2

gene
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Also known as SPR1

Summary

PSORS1C2 (psoriasis susceptibility 1 candidate 2, HGNC:17199) is a protein-coding gene on chromosome 6p21.33, encoding Psoriasis susceptibility 1 candidate gene 2 protein (Q9UIG4).

Predicted to be located in extracellular region.

Source: NCBI Gene 170680 — RefSeq curated summary.

At a glance

  • GWAS associations: 45
  • Clinical variants (ClinVar): 2 total
  • Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
  • MANE Select transcript: NM_014069

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:17199
Approved symbolPSORS1C2
Namepsoriasis susceptibility 1 candidate 2
Location6p21.33
Locus typegene with protein product
StatusApproved
AliasesSPR1
Ensembl geneENSG00000204538
Ensembl biotypeprotein_coding
OMIM613526
Entrez170680

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000259845

RefSeq mRNA: 1 — MANE Select: NM_014069 NM_014069

CCDS: CCDS4694

Canonical transcript exons

ENST00000259845 — 2 exons

ExonStartEnd
ENSE000016416563113897231139066
ENSE000018752163113753431138306

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 96.21.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2647 / max 176.4154, expressed in 25 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
726430.246121
726440.01863

Top tissues by expression

129 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
skin of legUBERON:000151196.21gold quality
zone of skinUBERON:000001495.73gold quality
skin of abdomenUBERON:000141695.15gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099189.37gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047383.49silver quality
esophagus mucosaUBERON:000246965.46gold quality
lower esophagus mucosaUBERON:003583457.90gold quality
vaginaUBERON:000099657.35gold quality
right lungUBERON:000216757.20gold quality
esophagusUBERON:000104355.64gold quality
mucosa of stomachUBERON:000119955.05gold quality
left testisUBERON:000453354.42gold quality
testisUBERON:000047354.21gold quality
right testisUBERON:000453454.13gold quality
body of stomachUBERON:000116153.76gold quality
right adrenal gland cortexUBERON:003582753.76gold quality
endometriumUBERON:000129553.73gold quality
mucosa of transverse colonUBERON:000499151.91gold quality
ectocervixUBERON:001224950.13gold quality
tonsilUBERON:000237249.99gold quality
transverse colonUBERON:000115749.98gold quality
stomachUBERON:000094549.77gold quality
myometriumUBERON:000129649.51gold quality
small intestine Peyer’s patchUBERON:000345449.34gold quality
upper lobe of left lungUBERON:000895249.19gold quality
ascending aortaUBERON:000149648.88gold quality
thoracic aortaUBERON:000151548.87gold quality
descending thoracic aortaUBERON:000234548.48gold quality
colonUBERON:000115548.21gold quality
muscle layer of sigmoid colonUBERON:003580547.87gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no0.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting PSORS1C2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-450099.9972.722367
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-LET-7D-5P99.9671.761632
HSA-MIR-445899.9671.641650
HSA-MIR-442899.7366.411733
HSA-MIR-1212499.6869.172700
HSA-MIR-391599.4568.491905
HSA-MIR-6828-5P99.3169.211433
HSA-MIR-66199.0965.942062
HSA-MIR-6876-3P98.9765.69765
HSA-MIR-62698.8966.21762
HSA-MIR-93498.4970.44581
HSA-MIR-548AT-3P98.3764.98580
HSA-MIR-548AY-3P98.3765.14562
HSA-MIR-443897.9663.70947
HSA-MIR-6847-5P97.9366.741808
HSA-MIR-1212797.9366.67793
HSA-MIR-3664-3P97.8567.621452
HSA-MIR-3928-3P97.6166.531096
HSA-MIR-311697.0765.781324
HSA-MIR-1468-5P94.1869.04176

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

  • HLA-Cw6 remains the major risk allele in Chinese psoriatics, and that the SPR1 gene might not play an important role in the causation of PV. (PMID:12823445)
  • In a case-control study, five of the nine single nucleotide polymorphisms (SNPs) found in SEEK1 were associated with psoriasis, while one of the four SNPs found in SPR1 showed association. (PMID:12930300)
  • HLA-Cw*06 allele frequency is associated with psoriasis (PMID:15523160)
  • In Czech population, association between HLA-Cw*06 and psoriatic arthritis was low and restricted to psoriatic arthritis patients with early psoriasis onset (PMID:22821332)
  • In summary, our results identify PSORS1C2 as a keratinocyte cornification-associated protein that has originated in evolutionarily basal mammals and has undergone gene inactivation in association with the loss of the skin barrier function in aquatic mammals. (PMID:27943452)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusPsors1c2ENSMUSG00000024409
rattus_norvegicusPsors1c2ENSRNOG00000048579

Protein

Protein identifiers

Psoriasis susceptibility 1 candidate gene 2 protein — Q9UIG4 (reviewed: Q9UIG4)

Alternative names: Protein SPR1

All UniProt accessions (2): A0A1U9X9A6, Q9UIG4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Expressed in skin. Also expressed in heart and skeletal muscle.

RefSeq proteins (1): NP_054788* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR029271SPR1Family

Pfam: PF15356

UniProt features (9 total): compositionally biased region 3, sequence variant 3, signal peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UIG4-F171.080.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 45 (showing top): DARWICHE_PAPILLOMA_PROGRESSION_RISK, KONG_E2F3_TARGETS, MODULE_205, MARTINEZ_RB1_TARGETS_DN, SHEN_SMARCA2_TARGETS_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_DN, KOHOUTEK_CCNT2_TARGETS, CTIP_DN.V1_DN, MIR6847_5P, MIR548AT_3P, MIR548AY_3P, GSE1460_INTRATHYMIC_T_PROGENITOR_VS_NAIVE_CD4_TCELL_CORD_BLOOD_DN, GSE1460_DP_THYMOCYTE_VS_NAIVE_CD4_TCELL_CORD_BLOOD_DN, GSE1460_CORD_VS_ADULT_BLOOD_NAIVE_CD4_TCELL_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
cellular anatomical structure1

Protein interactions and networks

STRING

670 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PSORS1C2PSORS1C1Q9UIG5620
PSORS1C2CCHCR1Q8TD31609
PSORS1C2CDSNQ15517605
PSORS1C2TCF19Q9Y242507
PSORS1C2C6orf15Q6UXA7506
PSORS1C2GTSF1Q8WW33505
PSORS1C2SAPCD1Q5SSQ6504
PSORS1C2GDPGP1Q6ZNW5445
PSORS1C2GSDMAQ96QA5418
PSORS1C2ALOXE3Q9BYJ1404
PSORS1C2KPRPQ5T749389
PSORS1C2FYB1O15117365
PSORS1C2GAKO14976353
PSORS1C2UNC79Q9P2D8349
PSORS1C2SPRR4Q96PI1348

IntAct

89 interactions, top by confidence:

ABTypeScore
VASPPSORS1C2psi-mi:“MI:0915”(physical association)0.600
PSORS1C2GUCA1Cpsi-mi:“MI:0915”(physical association)0.560
AP1B1PSORS1C2psi-mi:“MI:0915”(physical association)0.560
SERTAD1PSORS1C2psi-mi:“MI:0915”(physical association)0.560
HOMER3PSORS1C2psi-mi:“MI:0915”(physical association)0.560
LHX3PSORS1C2psi-mi:“MI:0915”(physical association)0.560
PEX19PSORS1C2psi-mi:“MI:0915”(physical association)0.560
UBQLN2PSORS1C2psi-mi:“MI:0915”(physical association)0.560
BANPPSORS1C2psi-mi:“MI:0915”(physical association)0.560
PSORS1C2UBQLN1psi-mi:“MI:0915”(physical association)0.560
ERICH2PSORS1C2psi-mi:“MI:0915”(physical association)0.560
PAX6PSORS1C2psi-mi:“MI:0915”(physical association)0.560
AP2B1PSORS1C2psi-mi:“MI:0915”(physical association)0.560
RELPSORS1C2psi-mi:“MI:0915”(physical association)0.560
HMG20APSORS1C2psi-mi:“MI:0915”(physical association)0.560
AGR2PSORS1C2psi-mi:“MI:0915”(physical association)0.560
SGTBPSORS1C2psi-mi:“MI:0915”(physical association)0.560
MEIS3PSORS1C2psi-mi:“MI:0915”(physical association)0.560
GUCA1CPSORS1C2psi-mi:“MI:0915”(physical association)0.560
MYL7PSORS1C2psi-mi:“MI:0915”(physical association)0.560
NCKIPSDPSORS1C2psi-mi:“MI:0915”(physical association)0.560
MYL2PSORS1C2psi-mi:“MI:0915”(physical association)0.560
PSORS1C2RTRAFpsi-mi:“MI:0915”(physical association)0.560
MED20PSORS1C2psi-mi:“MI:0915”(physical association)0.560
TTC23PSORS1C2psi-mi:“MI:0915”(physical association)0.560
SGTAPSORS1C2psi-mi:“MI:0915”(physical association)0.560
CEP70PSORS1C2psi-mi:“MI:0915”(physical association)0.560
PSORS1C2MICAL1psi-mi:“MI:0915”(physical association)0.400

BioGRID (27): PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid), PSORS1C2 (Two-hybrid)

ESM2 similar proteins: A0A0U1RRL7, A0A286YF18, A0JWY5, A1L429, A6NDE8, A6NER3, A8WFF7, B1ARW8, B8H8L5, E9PXT9, O76087, P04487, P06924, P0C675, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P22157, P25483, P26550, P56958, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q1HVH9, Q32LJ5, Q3KSU8, Q4V321, Q4V326, Q66619, Q66659, Q6NT46, Q7YR45

Diamond homologs: Q7YR45, Q80ZC9, Q9UIG4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance0
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

324 predictions. Top by Δscore:

VariantEffectΔscore
6:31138302:GATGC:Gacceptor_gain1.0000
6:31138304:TGC:Tacceptor_gain1.0000
6:31138305:GC:Gacceptor_gain1.0000
6:31138306:CC:Cacceptor_gain1.0000
6:31138307:C:CAacceptor_loss1.0000
6:31138307:C:CCacceptor_gain1.0000
6:31138303:ATGC:Aacceptor_gain0.9900
6:31138309:G:Cacceptor_gain0.9900
6:31138309:G:GCacceptor_gain0.9900
6:31137566:AT:Aacceptor_gain0.9800
6:31138304:TGCC:Tacceptor_gain0.9700
6:31138305:GCC:Gacceptor_gain0.9700
6:31138306:CCT:Cacceptor_gain0.9700
6:31138307:CTGT:Cacceptor_gain0.9700
6:31137567:T:Gacceptor_gain0.9600
6:31138303:ATGCC:Aacceptor_gain0.9600
6:31138308:T:Aacceptor_gain0.9500
6:31138307:C:Tacceptor_gain0.9400
6:31137567:T:TAacceptor_gain0.9300
6:31137566:ATG:Aacceptor_gain0.9000
6:31138549:G:Tdonor_gain0.9000
6:31138971:CCT:Cdonor_gain0.8700
6:31137566:A:AGacceptor_gain0.8400
6:31138966:CCTCA:Cdonor_loss0.8300
6:31138967:CTCAC:Cdonor_loss0.8300
6:31138968:TCA:Tdonor_loss0.8300
6:31138971:C:Adonor_loss0.8300
6:31138533:TG:Tdonor_gain0.8100
6:31138539:A:ACdonor_gain0.8000
6:31138540:C:CCdonor_gain0.8000

AlphaMissense

861 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:31138026:C:AW112C0.928
6:31138026:C:GW112C0.928
6:31138200:C:AW54C0.927
6:31138200:C:GW54C0.927
6:31138179:A:CF61L0.915
6:31138179:A:TF61L0.915
6:31138181:A:GF61L0.915
6:31138059:C:AW101C0.910
6:31138059:C:GW101C0.910
6:31138028:A:GW112R0.908
6:31138028:A:TW112R0.908
6:31138202:A:GW54R0.901
6:31138202:A:TW54R0.901
6:31137954:T:AR136S0.836
6:31137954:T:GR136S0.836
6:31138032:G:CN110K0.836
6:31138032:G:TN110K0.836
6:31138180:A:CF61C0.819
6:31138061:A:GW101R0.816
6:31138061:A:TW101R0.816
6:31139002:C:GG9R0.814
6:31139002:C:TG9R0.814
6:31138987:A:GC14R0.788
6:31138992:A:TV12D0.785
6:31138027:C:AW112L0.766
6:31138116:C:AW82C0.741
6:31138116:C:GW82C0.741
6:31138066:T:CD99G0.738
6:31139012:C:AW5C0.737
6:31139012:C:GW5C0.737

dbSNP variants (sampled 300 via entrez): RS1000289720 (6:31139431 C>T), RS1002599159 (6:31137039 T>G), RS1002935858 (6:31137417 G>A,C), RS1006840016 (6:31137759 A>T), RS1006856372 (6:31137461 GA>G,GAA), RS1007102032 (6:31139785 T>C), RS1009383010 (6:31141055 C>T), RS1009491170 (6:31140731 G>A), RS1009868315 (6:31140879 G>A), RS1010037987 (6:31137709 G>C,T), RS1012649185 (6:31137746 G>C), RS1013723914 (6:31140601 G>A), RS1017041868 (6:31138218 T>C,G), RS1017927809 (6:31139501 C>A,G), RS1018305536 (6:31137482 A>C)

Disease associations

OMIM: gene MIM:613526 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

45 associations (top):

StudyTraitp-value
GCST001137_9White blood cell count4.000000e-13
GCST001779_4Hematology traits5.000000e-07
GCST002647_135Height2.000000e-32
GCST002921_5Multiple myeloma4.000000e-10
GCST002922_6Multiple myeloma and monoclonal gammopathy6.000000e-10
GCST003542_141Night sleep phenotypes5.000000e-06
GCST004131_25Inflammatory bowel disease2.000000e-31
GCST004133_79Ulcerative colitis5.000000e-65
GCST004521_103Autism spectrum disorder or schizophrenia2.000000e-08
GCST004521_114Autism spectrum disorder or schizophrenia3.000000e-17
GCST004521_117Autism spectrum disorder or schizophrenia3.000000e-15
GCST004521_126Autism spectrum disorder or schizophrenia2.000000e-10
GCST004521_132Autism spectrum disorder or schizophrenia2.000000e-09
GCST004521_16Autism spectrum disorder or schizophrenia2.000000e-12
GCST004521_19Autism spectrum disorder or schizophrenia2.000000e-12
GCST004521_209Autism spectrum disorder or schizophrenia5.000000e-16
GCST004521_210Autism spectrum disorder or schizophrenia5.000000e-15
GCST004521_211Autism spectrum disorder or schizophrenia5.000000e-15
GCST004521_229Autism spectrum disorder or schizophrenia4.000000e-11
GCST004521_257Autism spectrum disorder or schizophrenia6.000000e-10
GCST004521_265Autism spectrum disorder or schizophrenia7.000000e-14
GCST004521_27Autism spectrum disorder or schizophrenia1.000000e-09
GCST004521_282Autism spectrum disorder or schizophrenia5.000000e-09
GCST004521_295Autism spectrum disorder or schizophrenia6.000000e-18
GCST004521_3Autism spectrum disorder or schizophrenia2.000000e-15
GCST004521_48Autism spectrum disorder or schizophrenia1.000000e-09
GCST004521_60Autism spectrum disorder or schizophrenia1.000000e-11
GCST004521_70Autism spectrum disorder or schizophrenia8.000000e-20
GCST007257_8Broad depression or schizophrenia2.000000e-10
GCST007725_26Serum uric acid levels3.000000e-08

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0004761uric acid measurement
EFO:0010418triacylglycerol 52:6 measurement
EFO:0008039BMI-adjusted hip circumference
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0009130clostridium difficile infection

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

4 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs746647CCHCR1, PSORS1C233.251nevirapine
rs2233945PSORS1C1, PSORS1C232.501etanercept
rs9263726PSORS1C1, PSORS1C233.751allopurinol
rs9263733PSORS1C20.000

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenatedecreases expression, increases abundance1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
jinfukangaffects cotreatment, decreases expression1
Resveratroldecreases expression, affects cotreatment1
Arsenatesdecreases expression1
Arsenicdecreases expression, increases abundance1
Chromatesdecreases expression1
Cisplatinaffects cotreatment, decreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Tetrachlorodibenzodioxinincreases expression1
Vanadatesdecreases expression1
Lactic Aciddecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): monoclonal gammopathy, plasma cell myeloma

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot