Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (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
MIRT738992	hsa-miR-4417	CLIP-seq
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
MIRT738992	hsa-miR-4417	CLIP-seq
MIRT2078851	hsa-miR-374c	CLIP-seq
MIRT2078852	hsa-miR-4731-3p	CLIP-seq
MIRT2078853	hsa-miR-4801	CLIP-seq
MIRT2078854	hsa-miR-655	CLIP-seq
MIRT2078855	hsa-miR-659	CLIP-seq
MIRT2305121	hsa-miR-626	CLIP-seq

Show/Hide all (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
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	11063257
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	9665387
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
604675	21338	ENSG00000167157

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
RVFERTHYPDAFVREELARRVNLSEARVQVWFQNRRAKFRRNERAMLASRSASLLKSYSQ
EAAIEQPVAPRPTALSPDYLSWTASSPYSTVPPYSPGSSGPATPGVNMANSIASLRLKAK
EFSLHHSQVPTVN

Sequence length

253

Interactions

View interactions

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	14648077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	14648077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31279092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	GWASCAT_DG	20585627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31578139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26824226, 28750408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Hemolysis	Hemolysis	BEFREE	28793778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31471104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12650976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	18378575	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36266731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	12963914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	28793778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26500057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26824226, 28750408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21539911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30214590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12963914, 26021759, 28750408, 30611866, 31185618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31471104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35915143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nager syndrome	Nager Syndrome	BEFREE	11063257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18413821, 26500057, 28750408, 31471104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18413821, 30341415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18003920, 21209210, 28823893		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	21209210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	12650976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21539911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28380430, 35405009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30214590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29554978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29216628		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRRX2 (paired related homeobox 2)