PWWP3A (PWWP domain containing 3A, DNA repair factor)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84939
Gene name PWWP domain containing 3A, DNA repair factor
Gene symbol PWWP3A
Synonyms (NCBI Gene)
EXPAND1HSPC211MUM-1MUM1
Chromosome 19
Chromosome location 19p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20347427, 25416956
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 20347427
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.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2TAK8
Protein name PWWP domain-containing DNA repair factor 3A (PWWP3A) (Mutated melanoma-associated antigen 1) (MUM-1) (PWWP domain-containing protein MUM1) (Protein expandere)
Protein function Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting
PDB 3PMI
Family and domains
Sequence 
MADAKYVLCRWEKRLWPAKVLARTATSTKNKRRKEYFLAVQILSLEEKIKVKSTEVEILE
KSQIEAIASSLASQNEVPAAPLEELAYRRSLRVALDVLSEGSIWSQESSAGTGRADRSLR
GKPMEHVSSPCDSNSSSLPRGDVLGSSRPHRRRPCVQQSLSSSFTCEKDPECKVDHKKGL
RKSENPRGPLVLPAGGGAQDESGSRIHHKNWTLASKRGGNSAQKASLCLNGSSLSEDDTE
RDMGSKGGSWAAPSLPSGVREDDPCANAEGHDPGLPLGSLTAPPAPEPSACSEPGECPAK
KRPRLDGSQRPPAVQLEPMAAGAAPSPGPGPGPRESVTPRSTARLGPPPSHASADATRCL
PCPDSQKLEKECQSSEESMGSNSMRSILEEDEEDEEPPRVLLYHEPRSFEVGMLVWHKHK
KYPFWPAVVKSVRQRDKKASVLYIEGHMNPKMKGFTVSLKSLKHFDCKEKQTLLNQARED
FNQDIGWCVSLITDYRVRLGCGSFAGSFLEYYAADISYPVRKSIQQDVLGTKLPQLSKGS
PEEPVVGCPLGQRQPCRKMLPDRSRAARDRANQKLVEYIVKAKGAESHLRAILKSRKPSR
WLQTFLSSSQYVTCVETYLEDEGQLDLVVKYLQGVYQEVGAKVLQRTNGDRIRFILDVLL
PEAIICAISAVDEVDYKTAEEKYIKGPSLSYREKEIFDNQLLEERNRRRR
Sequence length 710
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (1)
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
NON-ALCOHOLIC FATTY LIVER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (39)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 11157493
★★★★★
★☆☆☆☆
Found in Text Mining only
Acquired Immunodeficiency Syndrome Associate 11157493
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Marrow Diseases Associate 12393648
★★★★★
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Associate 11157493, 25673455, 36109172
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 36304471
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 21179245
★★★★★
★☆☆☆☆
Found in Text Mining only
Death Associate 12393648, 25673455
★★★★★
★☆☆☆☆
Found in Text Mining only
Hepatitis B Associate 10706878
★★★★★
★☆☆☆☆
Found in Text Mining only
Hereditary leiomyomatosis and renal cell cancer Associate 11972519, 26617862
★★★★★
★☆☆☆☆
Found in Text Mining only
HIV Infections Stimulate 25589617
★★★★★
★☆☆☆☆
Found in Text Mining only