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Gene Gene information from NCBI Gene database.
Entrez ID 27434
Gene name DNA polymerase mu
Gene symbol POLM
Synonyms (NCBI Gene)
Pol MuTdt-N
Chromosome 7
Chromosome location 7p13
miRNA miRNA information provided by mirtarbase database.
303 Show/Hide all (303)
miRTarBase ID miRNA Experiments Reference
MIRT018681 hsa-miR-335-5p Microarray 18185580
MIRT619848 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT619847 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT619846 hsa-miR-17-5p HITS-CLIP 23313552
MIRT619845 hsa-miR-20a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003887 Function DNA-directed DNA polymerase activity IBA
GO:0003887 Function DNA-directed DNA polymerase activity IEA
GO:0003887 Function DNA-directed DNA polymerase activity TAS
GO:0005515 Function Protein binding IPI 22458338
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606344 9185 ENSG00000122678
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP87
Protein name DNA-directed DNA/RNA polymerase mu (Pol Mu) (EC 2.7.7.7) (Terminal transferase)
Protein function Gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. {ECO:0000269|PubMed:12640116, ECO:0000269|PubM
PDB 2DUN , 2HTF , 4LZD , 4LZG , 4M04 , 4M0A , 4YCX , 4YD1 , 4YD2 , 5TWP , 5TWQ , 5TWR , 5TWS , 5TXX , 5TXZ , 5TYB , 5TYC , 5TYD , 5TYE , 5TYF , 5TYG , 5TYU , 5TYV , 5TYW , 5TYX , 5TYY , 5TYZ , 5VZ7 , 5VZ8 , 5VZ9 , 5VZA , 5VZB , 5VZC , 5VZD , 5VZE , 5VZF , 5VZG , 5VZH , 5VZI , 5W4F , 5ZLC , 6AEC , 6AEH , 6AK5 , 6AK6 , 6AK8 , 6AK9 , 6AKH , 6IPD , 6IPE , 6IPF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10391 DNA_pol_lambd_f 238 → 287 Fingers domain of DNA polymerase lambda Domain
PF14716 HHH_8 153 → 218 Helix-hairpin-helix domain Domain
PF14791 DNA_pol_B_thumb 430 → 493 DNA polymerase beta thumb Family
PF14792 DNA_pol_B_palm 290 → 386 DNA polymerase beta palm Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a number of tissues. Abundant in thymus.
Sequence
MLPKRRRARVGSPSGDAASSTPPSTRFPGVAIYLVEPRMGRSRRAFLTGLARSKGFRVLD
ACSSEATHVVMEETSAEEAVSWQERRMAAAPPGCTPPALLDISWLTESLGAGQPVPVECR
HRLEVAGPRKGPLSPAWMPAYACQRPTPLTHHNTGLSEALEILAEAAGFEGSEGRLLTFC
RAASVLKALPSPVTTLSQLQGLPHFGEHSSRVVQELLE
HGVCEEVERVRRSERYQTMKLF
TQIFGVGVKTADRWYREGLRTLDDLREQPQKLTQQQKAGLQHHQDLS
TPVLRSDVDALQQ
VVEEAVGQALPGATVTLTGGFRRGKLQGHDVDFLITHPKEGQEAGLLPRVMCRLQDQGLI
LYHQHQHSCCESPTRLAQQSHMDAFE
RSFCIFRLPQPPGAAVGGSTRPCPSWKAVRVDLV
VAPVSQFPFALLGWTGSKLFQRELRRFSRKEKGLWLNSHGLFDPEQKTFFQAASEEDIFR
HLGLEYLPPEQRN
A
Sequence length 494
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Non-homologous end-joining Nonhomologous End-Joining (NHEJ)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Malignant tumor of esophagus Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (26)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 40033250 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 28959900
★★★★★
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 283875, 62904
★★★★★
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 12368208, 18586118 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma LHGDN 15520469
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23922701 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 22509890
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 15026325, 30060029
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 22509890, 26097541 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 22509890, 28905458 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only