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

Gene ID: 283417, updated on 27-Nov-2024

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_173812.5NP_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:115756
    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_047428722.1XP_047284678.1  probable C-mannosyltransferase DPY19L2 isoform X6

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

    Conserved Domains (1) summary
    pfam10034
    Location:1585
    Dpy19; Q-cell neuroblast polarization
  3. XM_024448947.2XP_024304715.1  probable C-mannosyltransferase DPY19L2 isoform X6

    Conserved Domains (1) summary
    pfam10034
    Location:1613
    Dpy19; Q-cell neuroblast polarisation
  4. XM_047428727.1XP_047284683.1  probable C-mannosyltransferase DPY19L2 isoform X16

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

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

    Conserved Domains (1) summary
    pfam10034
    Location:115736
    Dpy19; Q-cell neuroblast polarisation
  7. XM_024448949.2XP_024304717.1  probable C-mannosyltransferase DPY19L2 isoform X10

    Conserved Domains (1) summary
    pfam10034
    Location:115516
    Dpy19; Q-cell neuroblast polarisation
  8. XM_024448945.2XP_024304713.1  probable C-mannosyltransferase DPY19L2 isoform X3

    Conserved Domains (1) summary
    pfam10034
    Location:115714
    Dpy19; Q-cell neuroblast polarisation
  9. XM_024448946.2XP_024304714.1  probable C-mannosyltransferase DPY19L2 isoform X6

    Conserved Domains (1) summary
    pfam10034
    Location:1613
    Dpy19; Q-cell neuroblast polarisation
  10. XM_017019193.3XP_016874682.1  probable C-mannosyltransferase DPY19L2 isoform X5

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

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

    Conserved Domains (1) summary
    pfam10034
    Location:1419
    Dpy19; Q-cell neuroblast polarization
  13. XM_047428721.1XP_047284677.1  probable C-mannosyltransferase DPY19L2 isoform X2

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

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

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

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

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

    Conserved Domains (1) summary
    pfam10034
    Location:115496
    Dpy19; Q-cell neuroblast polarisation
  19. XM_024448952.2XP_024304720.1  probable C-mannosyltransferase DPY19L2 isoform X13

    Conserved Domains (1) summary
    pfam10034
    Location:115516
    Dpy19; Q-cell neuroblast polarisation
  20. XM_024448950.2XP_024304718.1  probable C-mannosyltransferase DPY19L2 isoform X11

    Conserved Domains (1) summary
    pfam10034
    Location:115516
    Dpy19; Q-cell neuroblast polarisation
  21. XM_024448951.2XP_024304719.1  probable C-mannosyltransferase DPY19L2 isoform X12

    Conserved Domains (1) summary
    pfam10034
    Location:115516
    Dpy19; Q-cell neuroblast polarisation
  22. XM_047428729.1XP_047284685.1  probable C-mannosyltransferase DPY19L2 isoform X19

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

    Conserved Domains (1) summary
    pfam10034
    Location:115390
    Dpy19; Q-cell neuroblast polarisation
  24. XM_024448954.2XP_024304722.1  probable C-mannosyltransferase DPY19L2 isoform X17

    Conserved Domains (1) summary
    pfam10034
    Location:115390
    Dpy19; Q-cell neuroblast polarisation
  25. XM_024448957.2XP_024304725.1  probable C-mannosyltransferase DPY19L2 isoform X22

    Conserved Domains (1) summary
    pfam10034
    Location:115390
    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_054371811.1XP_054227786.1  probable C-mannosyltransferase DPY19L2 isoform X8

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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