• Gene id: 29947

Gene Summary

• Gene Symbol: DNMT3L   Gene   UCSC   Ensembl
• Gene name: DNA methyltransferase 3 like
• Alternate names: DNA (cytosine-5)-methyltransferase 3-like, DNA (cytosine-5-)-methyltransferase 3-like, cytosine-5-methyltransferase 3-like protein, human cytosine-5-methyltransferase 3-like protein,
• Gene location: 21q22.3 (44262215: 44246338)     Exons: 12     NC_000021.9
• Gene summary(Entrez): CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear
• OMIM: 606588

SNPs

rs2070565

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44261270T>C
NC_000021.8   g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L

rs2276248

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

Protein Summary

• Protein general information: Q9UJW3  
  • Name: DNA (cytosine 5) methyltransferase 3 like
  • Length: 386  
  • Mass: 43,583
• Sequence:

  MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDLIAYEVKANQRNIEDICICCGSLQVHTQHPLFEGGICAP
  CKDKFLDALFLYDDDGYQSYCSICCSGETLLICGNPDCTRCYCFECVDSLVGPGTSGKVHAMSNWVCYLCLPSSR
  SGLLQRRRKWRSQLKAFYDRESENPLEMFETVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQLKHVVDVT
  DTVRKDVEEWGPFDLVYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGSPRPFFWMFVDNLVLNKEDLDVASR
  FLEMEPVTIPDVHGGSLQNAVRVWSNIPAIRSRHWALVSEEELSLLAQNKQSSKLAAKWPTKLVKNCFLPLREYF
  KYFSTELTSSL

• Structural information:
  • Protein Domains: ADD. (41-173)
  • Interpro: IPR025766  IPR030486  IPR011011  IPR013083  
  • Prosite: PS51533
  • PDB: 2PV0 2PVC 2QRV 4U7P 4U7T 5YX2 6BRR 6F57
  • PDBsum: 2PV0 2PVC 2QRV 4U7P 4U7T 5YX2 6BRR 6F57
  • DIP: 35238
  • STRING: ENSP00000270172
• Other Databases: GeneCards:  DNMT3L  Malacards:  DNMT3L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006306	DNA methylation	NAS	biological process
GO:0006349	regulation of gene expression by genetic imprinting	NAS	biological process
GO:0007283	spermatogenesis	NAS	biological process
GO:0008047	enzyme activator activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006306	DNA methylation	IEA	biological process
GO:0006306	DNA methylation	NAS	biological process
GO:0006349	regulation of gene expression by genetic imprinting	NAS	biological process
GO:0007283	spermatogenesis	NAS	biological process
GO:0008047	enzyme activator activity	IDA	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030234	enzyme regulator activity	IEA	molecular function
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006306	DNA methylation	NAS	biological process
GO:0006349	regulation of gene expression by genetic imprinting	NAS	biological process
GO:0007283	spermatogenesis	NAS	biological process
GO:0008047	enzyme activator activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process

Diseases

Associated diseases	References
Cancer (epithelial ovarian)	GAD: 19064572
Cancer	GAD: 19064572
Endometriosis-associated infertility	INFBASE: 26647998
Unexplained azoospermia	MIK: 26662397
Spermatogenesis defects	MIK: 22116073
Spermatogenesis defects	MIK: 26662397
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Required for spermatogenesis	MIK: 15753313
Sperm number defects	MIK: 29713536
Spermatogenetic impairment and male infertility	MIK: 22116073
Spermatogenic failure, unexplained azoospermia	MIK: 26662397
Unexplained azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22116073	Spermatogenetic impairment and male infertility	rs2070565, rs2276248, rs7354779	Chinese	482 (233 infertile patients with azoospermia and 249 fertile controls)	Male infertility
15753313	Required for spermatogenesis				Male infertility
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
29713536	Sperm number defects	dup21q22.3, del21q22.3			Male infertility	NGS
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq