Gene Gene information from NCBI Gene database.
Entrez ID 170680
Gene name Psoriasis susceptibility 1 candidate 2
Gene symbol PSORS1C2
Synonyms (NCBI Gene)
C6orf17SPR1
Chromosome 6
Chromosome location 6p21.33
miRNA miRNA information provided by mirtarbase database.
52
miRTarBase ID miRNA Experiments Reference
MIRT711690 hsa-miR-490-5p HITS-CLIP 19536157
MIRT711689 hsa-miR-1468-5p HITS-CLIP 19536157
MIRT711690 hsa-miR-490-5p HITS-CLIP 19536157
MIRT711689 hsa-miR-1468-5p HITS-CLIP 19536157
MIRT1271076 hsa-miR-1254 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613526 17199 ENSG00000204538
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIG4
Protein name Psoriasis susceptibility 1 candidate gene 2 protein (Protein SPR1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15356 SPR1 23 136 Psoriasis susceptibility locus 2 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skin. Also expressed in heart and skeletal muscle. {ECO:0000269|PubMed:12930300}.
Sequence
Sequence length 136
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIV INFECTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIV-1 INFECTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Inhibit 10501656
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Associate 30626913
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Inhibit 35462437
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Associate 23955597
★☆☆☆☆
Found in Text Mining only
Leprosy Associate 34879060
★☆☆☆☆
Found in Text Mining only
Mental Disorders Associate 30626913
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Associate 23955597
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Muscular Atrophy Spinal Associate 37455203
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 10501656
★☆☆☆☆
Found in Text Mining only
Periodontitis Inhibit 27531006
★☆☆☆☆
Found in Text Mining only