Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6419
Gene name	SET and mariner transposase domain methyltransferase
Gene symbol	SETMAR
Synonyms (NCBI Gene)	METNASEMar1
Chromosome	3
Chromosome location	3p26.1
Summary	This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining

Show/Hide all (69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IBA
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	21491884
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IMP	24573677
GO:0000729	Process	DNA double-strand break processing	IBA
GO:0000729	Process	DNA double-strand break processing	IDA	21491884
GO:0000793	Component	Condensed chromosome	IBA
GO:0000793	Component	Condensed chromosome	IDA	18790802
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	20521842
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	21491884
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003690	Function	Double-stranded DNA binding	IMP	24573677
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IMP	24573677
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IDA	20620605, 21491884
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IMP	22231448
GO:0005515	Function	Protein binding	IPI	19390626, 20457750, 20521842, 20620605, 28514442, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	21491884
GO:0005634	Component	Nucleus	IDA	22231448
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	16332963
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	18263876, 21187428, 24573677
GO:0006308	Process	DNA catabolic process	IDA	20521842, 21491884
GO:0006308	Process	DNA catabolic process	IMP	24573677
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IMP	20457750
GO:0015074	Process	DNA integration	IBA
GO:0015074	Process	DNA integration	IMP	16332963, 24573677
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IMP	20457750, 22231448, 24573677
GO:0032259	Process	Methylation	IEA
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	18263876, 21187428
GO:0035861	Component	Site of double-strand break	IMP	22231448
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IDA	16332963
GO:0042803	Function	Protein homodimerization activity	IPI	20521842
GO:0044547	Function	DNA topoisomerase binding	IBA
GO:0044547	Function	DNA topoisomerase binding	IPI	18790802, 20457750
GO:0044774	Process	Mitotic DNA integrity checkpoint signaling	IBA
GO:0044774	Process	Mitotic DNA integrity checkpoint signaling	IMP	18790802
GO:0046872	Function	Metal ion binding	IEA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IBA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IMP	21187428, 22231448
GO:0090304	Process	Nucleic acid metabolic process	IMP	22231448
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140954	Function	Histone H3K36 dimethyltransferase activity	IDA	16332963
GO:0140954	Function	Histone H3K36 dimethyltransferase activity	IEA
GO:2000373	Process	Positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IDA	18790802
GO:2000373	Process	Positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IMP	20457750
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	20620605, 21491884
GO:2001251	Process	Negative regulation of chromosome organization	IDA	20620605

MIM	HGNC	e!Ensembl
609834	10762	ENSG00000170364

Q53H47

Protein name

Histone-lysine N-methyltransferase SETMAR (SET domain and mariner transposase fusion protein) (Metnase) [Includes: Histone-lysine N-methyltransferase (EC 2.1.1.357); Transposon Hsmar1 transposase (EC 3.1.-.-)]

Protein function

Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruite

PDB

3BO5 , 3F2K , 3K9J , 3K9K , 7S03

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05033	Pre-SET	29 → 131	Pre-SET motif	Family
PF00856	SET	150 → 263	SET domain	Family
PF17906	HTH_48	348 → 397	HTH domain in Mos1 transposase	Domain
PF01359	Transposase_1	501 → 580	Transposase (partial DDE domain)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest expression in placenta and ovary and lowest expression in skeletal muscle. {ECO:0000269|PubMed:16332963}.

Sequence

MFAEAAKTTRPCGMAEFKEKPEAPTEQLDVACGQENLPVGAWPPGAAPAPFQYTPDHVVG
PGADIDPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNV
LCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRTLEFIPKGRFVCEYAGEVLGFSEVQR
RIHLQTKSDSNYIIAIREHVYNGQVMETFVDPTYIGNIGRFLNHSCEPNLLMIPVRIDSM
VPKLALFAAKDIVPEEELSYDYSGRYLNLTVSEDKERLDHGKLRKPCYCGAKSCTAFLPF
DSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCKRLTLETMKMMLDKKQIRAIFLFEFK
MGRKAAETTRNINNAFGPGTANERTVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAI
IEADPLTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFEVSSSLI
LRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQEEAPKHFPKPILHPKKVMVTIWWSAA
GLIHYSFLNPGETITSEKYAQEIDEMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQ
KLNELGYEVLPHPPYSPDLLPTNYHVFKHLNNFLQGKRFHNQQDAENAFQEFVESQSTDF
YATGINQLISRWQKCVDCNGSYFD

Sequence length

684

Interactions

View interactions

	KEGG
	Lysine degradation Metabolic pathways

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)

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

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	6607706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31125268, 31671079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30045854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	284783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19390626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29750575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29911253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31780371, 31785331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25333365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	9599644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28895586, 29414781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28895586, 30855276, 30855277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28038463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28038463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	7545867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24607956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	24607956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29911253, 31680874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	9578087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	8737651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31787899		★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	8143270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19458360, 24607956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24607956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32950106	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	21124928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	21124928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	7950361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	284783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28038463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29414781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30855277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28188173, 28703289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Perineurioma	Perineurioma	BEFREE	16096405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31339183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29331511, 31339183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29615641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30045854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	24238341, 29467458, 30800000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28895586, 29414781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31780371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32950106	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SETMAR (SET and mariner transposase domain methyltransferase)