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    DPY19L2 dpy-19 like 2 [ Homo sapiens (human) ]

    Gene ID: 283417, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DPY19L2provided by HGNC
    Official Full Name
    dpy-19 like 2provided by HGNC
    Primary source
    HGNC:HGNC:19414
    See related
    Ensembl:ENSG00000177990 MIM:613893; AllianceGenome:HGNC:19414
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGF9; SPATA34
    Summary
    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, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]
    Expression
    Biased expression in testis (RPKM 14.7), heart (RPKM 3.9) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DPY19L2 in Genome Data Viewer
    Location:
    12q14.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (63558913..63668805, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (63537270..63646941, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (63952693..64062273, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3056 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:63812284-63813483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4613 Neighboring gene DPY19L2 LCR1 recombination region 1 Neighboring gene uncharacterized LOC105369797 Neighboring gene DPY19L2 LCR1 recombination region 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:64062679-64063180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:64063181-64063680 Neighboring gene S100A11 pseudogene 4 Neighboring gene T-box 20 pseudogene Neighboring gene DPY19L2 LCR2 recombination region 1 Neighboring gene DPY19L2 LCR2 recombination region 2 Neighboring gene ribosomal protein S27 pseudogene 24

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Detection of DPY19L2 gene mutation in 2 cases of globozoospermia]. Luo T, et al. Zhonghua Nan Ke Xue, 2020 Jul. PMID 33377718
    2. Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia. Alimohammadi F, et al. Reprod Fertil Dev, 2020 May. PMID 32312381
    3. Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility. Shang YL, et al. Asian J Androl, 2019 Mar-Apr. PMID 30333325, Free PMC Article
    4. Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients. Paci M, et al. Reprod Biomed Online, 2017 Nov. PMID 28882431
    5. MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. Coutton C, et al. Hum Reprod, 2012 Aug. PMID 22627659

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.
      Title: Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.
    2. Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
      Title: Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
    3. Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.
      Title: Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.
    4. [Detection of DPY19L2 gene mutation in 2 cases of globozoospermia].
      Title: [Detection of DPY19L2 gene mutation in 2 cases of globozoospermia].
    5. Here, we performed a screening of DPY19L2 variants in a cohort of Chinese globozoospermic patients and found that five of nine patients carried DPY19L2 deletions and the other four patients contained novel DPY19L2 point mutations
      Title: Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility.
    6. Low PLCZ1 expression is associated with globozoospermia with DPY19L2 deletion.
      Title: Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion.
    7. provide new evidence, on the one hand, for a severe lack of maturation of the NL, and on the other hand, for dramatic modifications in the location of chromatin-related NL partners in DPY19L2-deleted spermatozoa
      Title: Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients.
    8. Patients presenting with a monomorphic teratozoospermia such as globozoospermia or macrospermia with more than 85% of the spermatozoa presenting this specific abnormality have been analyzed permitting to identify several key genes for spermatogenesis such as AURKC and DPY19L2.
      Title: Genetic abnormalities leading to qualitative defects of sperm morphology or function.
    9. 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.
      Title: Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.
    10. The DPY19L2 mutations are the major cause of globozoospermia.
      Title: DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 9
    MedGen: C3151407 OMIM: 613958 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32949, FLJ36166

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    probable C-mannosyltransferase DPY19L2
    Names
    protein dpy-19 homolog 2
    spermatogenesis associated 34

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031909.1 RefSeqGene

      Range
      5082..114662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173812.5 → NP_776173.3  probable C-mannosyltransferase DPY19L2

      See identical proteins and their annotated locations for NP_776173.3

      Status: REVIEWED

      Source sequence(s)
      AK057511, AL833344, DB514316
      Consensus CDS
      CCDS31851.1
      UniProtKB/Swiss-Prot
      A4FVC1, B4E191, Q3ZCX2, Q6NUT2, Q6UWG8, Q96LZ9
      Related
      ENSP00000315988.4, ENST00000324472.9
      Conserved Domains (1) summary
      pfam10034
      Location:115 → 756
      Dpy19; Q-cell neuroblast polarization

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      63558913..63668805 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428722.1 → XP_047284678.1  probable C-mannosyltransferase DPY19L2 isoform X6

    2. XM_011538215.3 → XP_011536517.1  probable C-mannosyltransferase DPY19L2 isoform X8

      Conserved Domains (1) summary
      pfam10034
      Location:1 → 585
      Dpy19; Q-cell neuroblast polarization

    3. XM_024448947.2 → XP_024304715.1  probable C-mannosyltransferase DPY19L2 isoform X6

      Conserved Domains (1) summary
      pfam10034
      Location:1 → 613
      Dpy19; Q-cell neuroblast polarisation

    4. XM_047428727.1 → XP_047284683.1  probable C-mannosyltransferase DPY19L2 isoform X16

    5. XM_017019192.3 → XP_016874681.1  probable C-mannosyltransferase DPY19L2 isoform X4

    6. XM_024448944.2 → XP_024304712.1  probable C-mannosyltransferase DPY19L2 isoform X1

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 736
      Dpy19; Q-cell neuroblast polarisation

    7. XM_024448949.2 → XP_024304717.1  probable C-mannosyltransferase DPY19L2 isoform X10

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 516
      Dpy19; Q-cell neuroblast polarisation

    8. XM_024448945.2 → XP_024304713.1  probable C-mannosyltransferase DPY19L2 isoform X3

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 714
      Dpy19; Q-cell neuroblast polarisation

    9. XM_024448946.2 → XP_024304714.1  probable C-mannosyltransferase DPY19L2 isoform X6

      Conserved Domains (1) summary
      pfam10034
      Location:1 → 613
      Dpy19; Q-cell neuroblast polarisation

    10. XM_017019193.3 → XP_016874682.1  probable C-mannosyltransferase DPY19L2 isoform X5

    11. XM_047428728.1 → XP_047284684.1  probable C-mannosyltransferase DPY19L2 isoform X18

    12. XM_011538218.4 → XP_011536520.1  probable C-mannosyltransferase DPY19L2 isoform X21

      Conserved Domains (1) summary
      pfam10034
      Location:1 → 419
      Dpy19; Q-cell neuroblast polarization

    13. XM_047428721.1 → XP_047284677.1  probable C-mannosyltransferase DPY19L2 isoform X2

    14. XM_047428725.1 → XP_047284681.1  probable C-mannosyltransferase DPY19L2 isoform X9

    15. XM_047428723.1 → XP_047284679.1  probable C-mannosyltransferase DPY19L2 isoform X7

    16. XM_047428724.1 → XP_047284680.1  probable C-mannosyltransferase DPY19L2 isoform X7

    17. XM_047428726.1 → XP_047284682.1  probable C-mannosyltransferase DPY19L2 isoform X14

    18. XM_024448953.2 → XP_024304721.1  probable C-mannosyltransferase DPY19L2 isoform X15

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 496
      Dpy19; Q-cell neuroblast polarisation

    19. XM_024448952.2 → XP_024304720.1  probable C-mannosyltransferase DPY19L2 isoform X13

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 516
      Dpy19; Q-cell neuroblast polarisation

    20. XM_024448950.2 → XP_024304718.1  probable C-mannosyltransferase DPY19L2 isoform X11

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 516
      Dpy19; Q-cell neuroblast polarisation

    21. XM_024448951.2 → XP_024304719.1  probable C-mannosyltransferase DPY19L2 isoform X12

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 516
      Dpy19; Q-cell neuroblast polarisation

    22. XM_047428729.1 → XP_047284685.1  probable C-mannosyltransferase DPY19L2 isoform X19

    23. XM_024448955.2 → XP_024304723.1  probable C-mannosyltransferase DPY19L2 isoform X20

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 390
      Dpy19; Q-cell neuroblast polarisation

    24. XM_024448954.2 → XP_024304722.1  probable C-mannosyltransferase DPY19L2 isoform X17

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 390
      Dpy19; Q-cell neuroblast polarisation

    25. XM_024448957.2 → XP_024304725.1  probable C-mannosyltransferase DPY19L2 isoform X22

      Conserved Domains (1) summary
      pfam10034
      Location:115 → 390
      Dpy19; Q-cell neuroblast polarisation

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      63537270..63646941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371811.1 → XP_054227786.1  probable C-mannosyltransferase DPY19L2 isoform X8

    2. XM_054371808.1 → XP_054227783.1  probable C-mannosyltransferase DPY19L2 isoform X6

    3. XM_054371819.1 → XP_054227794.1  probable C-mannosyltransferase DPY19L2 isoform X16

    4. XM_054371805.1 → XP_054227780.1  probable C-mannosyltransferase DPY19L2 isoform X4

    5. XM_054371802.1 → XP_054227777.1  probable C-mannosyltransferase DPY19L2 isoform X1

    6. XM_054371813.1 → XP_054227788.1  probable C-mannosyltransferase DPY19L2 isoform X10

    7. XM_054371804.1 → XP_054227779.1  probable C-mannosyltransferase DPY19L2 isoform X3

    8. XM_054371807.1 → XP_054227782.1  probable C-mannosyltransferase DPY19L2 isoform X6

    9. XM_054371806.1 → XP_054227781.1  probable C-mannosyltransferase DPY19L2 isoform X5

    10. XM_054371821.1 → XP_054227796.1  probable C-mannosyltransferase DPY19L2 isoform X18

    11. XM_054371825.1 → XP_054227800.1  probable C-mannosyltransferase DPY19L2 isoform X23

    12. XM_054371803.1 → XP_054227778.1  probable C-mannosyltransferase DPY19L2 isoform X2

    13. XM_054371812.1 → XP_054227787.1  probable C-mannosyltransferase DPY19L2 isoform X9

    14. XM_054371809.1 → XP_054227784.1  probable C-mannosyltransferase DPY19L2 isoform X7

    15. XM_054371810.1 → XP_054227785.1  probable C-mannosyltransferase DPY19L2 isoform X7

    16. XM_054371817.1 → XP_054227792.1  probable C-mannosyltransferase DPY19L2 isoform X14

    17. XM_054371818.1 → XP_054227793.1  probable C-mannosyltransferase DPY19L2 isoform X15

    18. XM_054371816.1 → XP_054227791.1  probable C-mannosyltransferase DPY19L2 isoform X13

    19. XM_054371814.1 → XP_054227789.1  probable C-mannosyltransferase DPY19L2 isoform X11

    20. XM_054371815.1 → XP_054227790.1  probable C-mannosyltransferase DPY19L2 isoform X12

    21. XM_054371822.1 → XP_054227797.1  probable C-mannosyltransferase DPY19L2 isoform X19

    22. XM_054371823.1 → XP_054227798.1  probable C-mannosyltransferase DPY19L2 isoform X20

    23. XM_054371820.1 → XP_054227795.1  probable C-mannosyltransferase DPY19L2 isoform X17

    24. XM_054371824.1 → XP_054227799.1  probable C-mannosyltransferase DPY19L2 isoform X22

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUT2.2 GenPept UniProtKB/Swiss-Prot:Q6NUT2

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