• Gene id: 283417

Gene Summary

• Gene Symbol: DPY19L2   Gene   UCSC   Ensembl
• Aliases: SPATA34, SPGF9
• Gene name: dpy-19 like 2
• Alternate names: probable C-mannosyltransferase DPY19L2, protein dpy-19 homolog 2, spermatogenesis associated 34,
• Gene location: 12q14.2 (63669200: 63558912)     Exons: 31     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, s
• OMIM: 613893

SNPs

rs868256749

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

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

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

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

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

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs147579680

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

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

Protein Summary

• Protein general information: Q6NUT2  
  • Name: Probable C mannosyltransferase DPY19L2 (EC 2.4.1. ) (Dpy 19 like protein 2) (Protein dpy 19 homolog 2)
  • Length: 758  
  • Mass: 87,374
• Sequence:

  MRKQGVSSKRLQSSGRSQSKGRRGASLAREPEVEEEMEKSALGGGKLPRGSWRSSPGRIQSLKERKGLELEVVAK
  TFLLGPFQFVRNSLAQLREKVQELQARRFSSRTTLGIAVFVAILHWLHLVTLFENDRHFSHLSSLEREMTFRTEM
  GLYYSYFKTIIEAPSFLEGLWMIMNDRLTEYPLIINAIKRFHLYPEVIIASWYCTFMGIMNLFGLETKTCWNVTR
  IEPLNEVQSCEGLGDPACFYVGVIFILNGLMMGLFFMYGAYLSGTQLGGLITVLCFFFNHGEATRVMWTPPLRES
  FSYPFLVLQMCILTLILRTSSNDRRPFIALCLSNVAFMLPWQFAQFILFTQIASLFPMYVVGYIEPSKFQKIIYM
  NMISVTLSFILMFGNSMYLSSYYSSSLLMTWAIILKRNEIQKLGVSKLNFWLIQGSAWWCGTIILKFLTSKILGV
  SDHIRLSDLIAARILRYTDFDTLIYTCAPEFDFMEKATPLRYTKTLLLPVVMVITCFIFKKTVRDISYVLATNIY
  LRKQLLEHSELAFHTLQLLVFTALAILIMRLKMFLTPHMCVMASLICSRQLFGWLFRRVRFEKVIFGILTVMSIQ
  GYANLRNQWSIIGEFNNLPQEELLQWIKYSTTSDAVFAGAMPTMASIKLSTLHPIVNHPHYEDADLRARTKIVYS
  TYSRKSAKEVRDKLLELHVNYYVLEEAWCVVRTKPGCSMLEIWDVEDPSNAANPPLCSVLLEDARPYFTTVFQNS
  VYRVLKVN

• Structural information:
  • Interpro: IPR018732  IPR030042  
  • STRING: ENSP00000315988
• Other Databases: GeneCards:  DPY19L2  Malacards:  DPY19L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005637	nuclear inner membrane	IBA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007286	spermatid development	IMP	biological process
GO:0007286	spermatid development	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0018406	protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan	IBA	biological process
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005637	nuclear inner membrane	IBA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007286	spermatid development	IMP	biological process
GO:0007286	spermatid development	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0018406	protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan	IBA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005637	nuclear inner membrane	IBA	cellular component
GO:0007286	spermatid development	IMP	biological process
GO:0007286	spermatid development	IMP	biological process
GO:0018406	protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan	IBA	biological process

Diseases

Associated diseases	References
Sperm macrocephaly	MIK: 25755131
Male factor infertility	MIK: 24265589
Macrozoospermia	MIK: 25219909
Globozoospermia	MIK: 21397064
Globozoospermia	MIK: 21397063
Male infertility	MIK: 21397064
Macrozoospermia	MIK: 25219909
Sperm macrocephaly	MIK: 25755131
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24265589	Globozoospermia		Macedon ian	2 Globozoospermia	Male infertility	SPATA16 PICK1 and DPY19L2
26418511	Globozoospermia				Male infertility	AURKC DPY19L2
25219909	Macrozoospermia, male infertility	c.114delC, p.Y248*		599 consecutive patients consulting for couple infertility	Male infertility
24341097	Globozoospermia				Male infertility
25755131	Sperm macrocephaly, globozoospermia			12 (3 infertility owing to sperm macrocephaly, 9 globozoospermia)	Male infertility
23512994	Globozoospermia	c.1681_1682delAC (c.[1679delT; 1681_1682delAC]) (one patient), a recurrent missense mutation R290H (one patient) and a missense mutation L330P (one patient)	Chinese	15 genetically independent patients with globozoospermia	Male infertility
22653751	Globozoospermia			64 globozoospermic patients	Male infertility	DPY19L2
22627659	Globozoospermia	DPY19L2 ( p.Q342*, p.R290H, p.M358K)	Tunisia , Franc e	234 (34 patients presenting with globozoospermia were recruited during routine infertility, 200 individuals from the general population)	Male infertility	DPY19L2
21397064	Globozoospermia, Male infertility				Male infertility	DPY19L2
21397063	Globozoospermia	DPY19L2 deletion			Male infertility	DPY19L2 SPATA16 PICK1
28981950	Globozoospermia			1 patient with globozoospermia	Male infertility
30362053	Globozoospermia, Male infertility				Male infertility
25354701	Globozoospermia				Male infertility	DPY19L2
30333325	Globozoospermia	(c.2126+5G>A), c.1720C>T, p.Arg574*, c.1182-1184delATC, p.Leu394_Ser395delinsPhe; c.368A>T, p.His123Arg, c.1182-1184delATCTT, frameshift,c.1553_1554delAT p.Tyr518CysfsTer14	Chinese	9 cases	Male infertility	NGS
32219831	Globozoospermia	c.384dup (p.Glu129*)		3 (2 affected siblings and their mother)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31985809	Globozoospermia	p.(Gly239Arg)		16 infertile patients	Male infertility	NGS
29339016	Globozoospermia	32 DPY19L2 deletion			Male infertility
30584989	Globozoospermia	DPY19L2 deletion			Male infertility
28272055	Globozoospermia				Male infertility
28882431	Globozoospermia				Male infertility
22764053	Globozoospermia				Male infertility
26516168	Globozoospermia		Tunisia n	21 globozoospermic patients	Male infertility