Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25803
Gene name Gene Name - the full gene name approved by the HGNC.
SAM pointed domain containing ETS transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPDEF
Synonyms (NCBI Gene) Gene synonyms aliases
PDEF, bA375E1.3
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expre
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005337 hsa-miR-204-5p Luciferase reporter assay, Western blot 18922924
MIRT005338 hsa-miR-510-5p Luciferase reporter assay, Western blot 18922924
MIRT018698 hsa-miR-335-5p Microarray 18185580
MIRT439144 hsa-let-7c-5p 3'LIFE 25074381
MIRT439144 hsa-let-7c-5p 3'LIFE 25074381
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 21656828
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005515 Function Protein binding IPI 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608144 17257 ENSG00000124664
Protein
UniProt ID O95238
Protein name SAM pointed domain-containing Ets transcription factor (Prostate epithelium-specific Ets transcription factor) (Prostate-specific Ets) (Prostate-derived Ets factor)
Protein function May function as an androgen-independent transactivator of the prostate-specific antigen (PSA) promoter. Binds to 5'-GGAT-3' DNA sequences. May play a role in the regulation of the prostate gland and/or prostate cancer development. Acts as a tran
PDB 1YO5 , 2DKX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02198 SAM_PNT 131 213 Sterile alpha motif (SAM)/Pointed domain Domain
PF00178 Ets 250 332 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a very restricted set of primarily hormone-regulated epithelial tissues with particularly high expression in the prostate gland. Significantly lower expression is seen in other hormone regulated tissues such as mammary gla
Sequence
MGSASPGLSSVSPSHLLLPPDTVSRTGLEKAAAGAVGLERRDWSPSPPATPEQGLSAFYL
SYFDMLYPEDSSWAAKAPGASSREEPPEEPEQCPVIDSQAPAGSLDLVPGGLTLEEHSLE
QVQSMVVGEVLKDIETACKLLNITADPMDWSPSNVQKWLLWTEHQYRLPPMGKAFQELAG
KELCAMSEEQFRQRSPLGGDVLHAHLDIWKSAA
WMKERTSPGAIHYCASTSEESWTDSEV
DSSCSGQPIHLWQFLKELLLKPHSYGRFIRWLNKEKGIFKIEDSAQVARLWGIRKNRPAM
NYDKLSRSIRQYYKKGIIRKPDISQRLVYQFV
HPI
Sequence length 335
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 27569725
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)
18567002
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 17521701
Airway Obstruction Associate 31596609
Asthma Associate 31596609
Breast Neoplasms Associate 11953821, 15096563, 17172821, 17521701, 17971898, 18579687, 18922924, 19666396, 19748849, 23764000, 26885618, 27997592, 34191390, 35875026
Breast Neoplasms Stimulate 16357167, 23592399
Breast Neoplasms Inhibit 19830706
Calcinosis Cutis Stimulate 11953821
Carcinogenesis Associate 30576937, 34667150
Carcinoma Ductal Associate 35906698
Carcinoma Ductal Breast Stimulate 17521701