Gene Gene information from NCBI Gene database.
Entrez ID 51533
Gene name PHD finger protein 7
Gene symbol PHF7
Synonyms (NCBI Gene)
HSPC045HSPC226NYD-SP6
Chromosome 3
Chromosome location 3p21.1
Summary Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not
miRNA miRNA information provided by mirtarbase database.
172
miRTarBase ID miRNA Experiments Reference
MIRT023162 hsa-miR-124-3p Microarray 18668037
MIRT710787 hsa-miR-4797-5p HITS-CLIP 19536157
MIRT710786 hsa-miR-5586-3p HITS-CLIP 19536157
MIRT710785 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT710784 hsa-miR-759 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620057 18458 ENSG00000010318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BWX1
Protein name E3 ubiquitin-protein ligase PHF7 (EC 2.3.2.27) (PHD finger protein 7) (Testis development protein NYD-SP6)
Protein function E3 ubiquitin-protein ligase which ubiquitinates histone H3 at 'Lys-14' (By similarity). Required for male fertility, via inhibition of SPOP-mediated BRDT degradation when in the presence of acetylated histone H4 in early condensing spermatids (B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13771 zf-HC5HC2H 58 145 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in Sertoli cells, but not in germ cells in adult testis. Expression in embryonic testis is 30-times lower. Highly expressed in colon, spleen, white blood cells, pancreas, lung, liver, placenta and brain. Detected at lo
Sequence
MKTVKEKKECQRLRKSAKTRRVTQRKPSSGPVCWLCLREPGDPEKLGEFLQKDNISVHYF
CLILSSKLPQRGQSNRGFHGFLPEDIKKEAARASRKICFVCKKKGAAINCQKDQCLRNFH
LPCGQERGCLSQFFGEYKSFCDKHR
PTQNIQHGHVGEESCILCCEDLSQQSVENIQSPCC
SQAIYHRKCIQKYAHTSAKHFFKCPQCNNRKEFPQEMLRMGIHIPDRDAAWELEPGAFSD
LYQRYQHCDAPICLYEQGRDSFEDEGRWCLILCATCGSHGTHRDCSSLRSNSKKWECEEC
SPAAATDYIPENSGDIPCCSSTFHPEEHFCRDNTLEENPGLSWTDWPEPSLLEKPESSRG
RRSYSWRSKGVRITNSCKKSK
Sequence length 381
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PHF7-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Progressive sensorineural hearing impairment Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations