Gene Gene information from NCBI Gene database.
Entrez ID 51450
Gene name Paired related homeobox 2
Gene symbol PRRX2
Synonyms (NCBI Gene)
PMX2PRX2
Chromosome 9
Chromosome location 9q34.11
Summary The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in ex
miRNA miRNA information provided by mirtarbase database.
17
miRTarBase ID miRNA Experiments Reference
MIRT023165 hsa-miR-124-3p Microarray 18668037
MIRT738996 hsa-miR-296-3p CLIP-seq
MIRT738995 hsa-miR-4265 CLIP-seq
MIRT738994 hsa-miR-4296 CLIP-seq
MIRT738993 hsa-miR-4322 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604675 21338 ENSG00000167157
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99811
Protein name Paired mesoderm homeobox protein 2 (Paired-related homeobox protein 2) (PRX-2)
Protein function May play a role in the scarless healing of cutaneous wounds during the first two trimesters of development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 105 161 Homeodomain Domain
PF03826 OAR 226 244 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: In fetal skin, highest expression found in cells of mesodermal origin within the dermal papilla of the developing hair shaft. Not detected in epidermis or dermis. In adult skin, weakly expressed within the basal layers of the epidermis
Sequence
MDSAAAAFALDKPALGPGPPPPPPALGPGDCAQARKNFSVSHLLDLEEVAAAGRLAARPG
ARAEAREGAAREPSGGSSGSEAAPQDGECPSPGRGSAAKRKKKQRRNRTTFNSSQLQALE
RVFERTHYPDAFVREELARRVNLSEARVQVWFQNRRAKFRR
NERAMLASRSASLLKSYSQ
EAAIEQPVAPRPTALSPDYLSWTASSPYSTVPPYSPGSSGPATPGVNMANSIASLRLKAK
EFSL
HHSQVPTVN
Sequence length 253
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Fuchs' Endothelial Dystrophy Inhibit 18378575
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 36266731
★☆☆☆☆
Found in Text Mining only
Myelodysplastic Syndromes Associate 35915143
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 35405009
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 28380430, 35405009
★☆☆☆☆
Found in Text Mining only