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

Gene ID: 283417, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (63558913..63668805, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (63537270..63646941, complement)
105.20220307 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
  • 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. Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia. López-Rodrigo O, et al. Reprod Biomed Online, 2022 Aug. PMID 35610156
  2. [Detection of DPY19L2 gene mutation in 2 cases of globozoospermia]. Luo T, et al. Zhonghua Nan Ke Xue, 2020 Jul. PMID 33377718
  3. 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
  4. 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
  5. 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

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
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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 protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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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