Property Summary

NCBI Gene PubMed Count 12
PubMed Score 114.25
PubTator Score 23.55

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q6NUT2 A4FVC1 B4E191 Q3ZCX2 Q6UWG8 Q96LZ9
Symbols SPGF9
SPATA34

Gene

Gene RIF (7)

PMID Text
26516168 Among Tunisian patients with globozoospermia, 8 DPY19L2 haplotypes were found. 61.1% were homozygous for a DPY19L2 deletion. A new splice-site mutation at the junction exon-intron 16 [c.1579_1580+4delAGGTAAinsTCAT] was found in 1 patient.
23555282 Analysis of public databases at the DPY19L2 locus paradoxically revealed that, in the general population, duplications were approximately three times as frequent as deletions.
23512994 The DPY19L2 mutations are the major cause of globozoospermia.
22653751 DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene.
22627659 identification of DPY19L2 deletions and point mutations in European patients shows that globozoospemia caused by a molecular defect of DPY19L2 can be expected in individuals from any ethnic background
21397064 Patients with globozoospermia have a homozygous deletion of DPY19L2.
16526957 The relocation of the gene DPY19L2 within a set of low copy repeats.

AA Sequence

MRKQGVSSKRLQSSGRSQSKGRRGASLAREPEVEEEMEKSALGGGKLPRGSWRSSPGRIQSLKERKGLEL      1 - 70
EVVAKTFLLGPFQFVRNSLAQLREKVQELQARRFSSRTTLGIAVFVAILHWLHLVTLFENDRHFSHLSSL     71 - 140
EREMTFRTEMGLYYSYFKTIIEAPSFLEGLWMIMNDRLTEYPLIINAIKRFHLYPEVIIASWYCTFMGIM    141 - 210
NLFGLETKTCWNVTRIEPLNEVQSCEGLGDPACFYVGVIFILNGLMMGLFFMYGAYLSGTQLGGLITVLC    211 - 280
FFFNHGEATRVMWTPPLRESFSYPFLVLQMCILTLILRTSSNDRRPFIALCLSNVAFMLPWQFAQFILFT    281 - 350
QIASLFPMYVVGYIEPSKFQKIIYMNMISVTLSFILMFGNSMYLSSYYSSSLLMTWAIILKRNEIQKLGV    351 - 420
SKLNFWLIQGSAWWCGTIILKFLTSKILGVSDHIRLSDLIAARILRYTDFDTLIYTCAPEFDFMEKATPL    421 - 490
RYTKTLLLPVVMVITCFIFKKTVRDISYVLATNIYLRKQLLEHSELAFHTLQLLVFTALAILIMRLKMFL    491 - 560
TPHMCVMASLICSRQLFGWLFRRVRFEKVIFGILTVMSIQGYANLRNQWSIIGEFNNLPQEELLQWIKYS    561 - 630
TTSDAVFAGAMPTMASIKLSTLHPIVNHPHYEDADLRARTKIVYSTYSRKSAKEVRDKLLELHVNYYVLE    631 - 700
EAWCVVRTKPGCSMLEIWDVEDPSNAANPPLCSVLLEDARPYFTTVFQNSVYRVLKVN                701 - 758
//

Text Mined References (14)

PMID Year Title
26516168 2016 Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.
23555282 2013 Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.
23512994 2013 DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.
22653751 2012 Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.
22627659 2012 MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21397064 2011 A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
21397063 2011 DPY19L2 deletion as a major cause of globozoospermia.
16541075 2006 The finished DNA sequence of human chromosome 12.
16526957 2006 Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
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