DPY19L2 - dpy-19 like 2 Gene

Also Known as SPGF9; SPATA34

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 283417

About DPY19L2

Cytogenetic location: 12q14.2 Genomic coordinates (GRCh38): 12:63,558,913-63,668,805 (from NCBI)

This gene has 9 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 14.7), heart (RPKM 3.9) and 10 other tissues.

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]

DPY19L2 Products (1)

mRNA Protein Name
NM_173812.5 NP_776173.3 probable C-mannosyltransferase DPY19L2
Biological Process GO Annotation Evidence References Source
involved in spermatid development IMP
IMP: Inferred from mutant phenotype
21397063 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DPY19L2 Protein Structure

Dpy19

Dpy19: Q-cell neuroblast polarisation (113 - 757)

  • 0
  • 200
  • 400
  • 600
  • 758 a.a.
Protein Preferred Names Protein Names

probable C-mannosyltransferase DPY19L2

  • protein dpy-19 homolog 2

Related Diseases

Diseases Alias
Spermatogenic Failure 9
  • Male Infertility Due To Globozoospermia

  • SPGF9

  • Male Infertility Due To Round-Headed Spermatozoa

  • Globozoospermia, Complete

  • Globozoospermia, Total

  • Globozoospermia

  • Globozoospermia Syndrome

  • Round-Headed Sperm Syndrome

  • Globozoospermia Complete

  • Globozoospermia Total

Infertility
Spermatogenic Failure
  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism

Spermatogenic Failure 5
  • Male Infertility With Large-Headed, Multiflagellar, Polyploid Spermatozoa

  • Infertility Associated With Multi-Tailed Spermatozoa And Excessive Dna

  • SPGF5

  • Macrocephalic Sperm Head Syndrome

  • Male Infertility Due To Macrozoospermia

  • Infertility Associated With Multitailed Spermatozoa And Excessive Dna

  • Macrozoospermia

  • Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa

  • Infertility Associated With Multi-Tailed Spermatozoa And Excessive Deoxyribonucleic Acid

  • Large-Headed Multiflagellar Polyploid Spermatozoa

  • Male Infertility With Large-Headed Multiflagellar Polyploid Spermatozoa

Oligoasthenoteratozoospermia
  • Oat

  • Oligoasthenoteratospermia

Vas Deferens, Congenital Bilateral Aplasia Of
  • Congenital Bilateral Absence Of Vas Deferens

  • CBAVD

  • Cavd

  • Congenital Bilateral Aplasia Of Vas Deferens

  • Congenital Bilateral Absence Of The Vas Deferens

  • Congenital Bilateral Agenesis Of Vas Deferens

  • Absence Of Vas Deferens

  • Absent Vasa

  • Congenital Absence Of Vas Deferens

  • Congenital Aplasia Of Vas Deferens

  • Absent Vas Deferens

  • Vas Deferens, Congenital Bilateral Absence

Pelvic Varices
  • Varix Of Pelvis

  • Pelvic Varicose Vein

Male Infertility
  • Infertility, Male

  • Infertility Male

  • Male Sterility

  • Absolute Infertility

Primary Ciliary Dyskinesia
  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus DPY19L2 MGD MGI:2444662
Rattus norvegicus DPY19L2 RGD RGD:1564311
Bos taurus DPY19L2 VGNC VGNC:59169
Canis familiaris DPY19L2 VGNC VGNC:97188
Others DPY19L2 NCBI