POU5F2 (POU domain class 5, transcription factor 2)

Gene

• Entrez ID: 134187
• Gene name: POU domain class 5, transcription factor 2
• Gene symbol: POU5F2
• Synonyms (NCBI Gene): SPRM-1
• Chromosome: 5
• Chromosome location: 5q15

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1251040	hsa-miR-1323	CLIP-seq
MIRT1251041	hsa-miR-1343	CLIP-seq
MIRT1251042	hsa-miR-3074-5p	CLIP-seq
MIRT1251043	hsa-miR-3146	CLIP-seq
MIRT1251044	hsa-miR-3148	CLIP-seq
MIRT1251045	hsa-miR-4668-5p	CLIP-seq
MIRT1251046	hsa-miR-548a-3p	CLIP-seq
MIRT1251047	hsa-miR-548e	CLIP-seq
MIRT1251048	hsa-miR-548f	CLIP-seq
MIRT1251049	hsa-miR-548o	CLIP-seq
MIRT1251050	hsa-miR-570	CLIP-seq
MIRT1251051	hsa-miR-629	CLIP-seq
MIRT1251045	hsa-miR-4668-5p	CLIP-seq
MIRT1251044	hsa-miR-3148	CLIP-seq
MIRT1251045	hsa-miR-4668-5p	CLIP-seq
MIRT1251050	hsa-miR-570	CLIP-seq

Gene ontology (GO)

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	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8N7G0
• Protein name: POU domain, class 5, transcription factor 2 (Sperm 1 POU domain transcription factor) (SPRM-1)
• Protein function: Transcription factor that binds preferentially to the octamer motif (5'-ATGTTAAT-3'). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00157	Pou	122 → 192	Pou domain - N-terminal to homeobox domain	Domain
  PF00046	Homeodomain	212 → 264	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal and cardiac muscles, brain, heart and lung. Little or no detectable expression found in pancreas, kidney, liver or placenta. {ECO:0000269|PubMed:7908264}.
• Sequence:

  MAGHRPSNHFCPLPGSGGGGPRGPMPLRVDTLTWLSTQAAPGRVMVWPAVRPGICPGPDV
  WRIPLGPLPHEFRGWIAPCRPRLGASEAGDWLRRPSEGALPGPYIALRSIPKLPPPEDIS
  GILKELQQLAKELRQKRLSLGYSQADVGIAVGALFGKVLSQTTICRFEAQQLSVANMWKL
  RPLLKKWLKEVEAENLLGLCKMEMILQQSGKWRRASRERRIGNSLEKFFQRCPKPTPQQI
  SHIAGCLQLQKDVVRVWFYNRSKMGSRPTNDASPREIVGTAGPPCPGAPVCFHLGLGLPV
  DIPHYTRLYSAGVAHSSAPATTLGLLRF

• Sequence length: 328

Associated diseases

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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations