2. Gene
  3. DPY19L2 - dpy-19 like 2 Gene

DPY19L2 - dpy-19 like 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：dpy-19 样 2

种属: Homo sapiens

同用名: SPGF9; SPATA34

基因 ID: 283417 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于 dpy-19 家族。它在睾丸中高度表达，是精子发生过程中精子头部伸长和顶体形成所必需的。该基因的突变与不育症、生精障碍 9 型 (SPGF9) 有关。[RefSeq 提供，2011 年 12 月]

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 基因产物(1)

mRNA Protein Name
NM_173812.5 NP_776173.3 probable C-mannosyltransferase DPY19L2
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in spermatid development IMP
IMP: 通过突变表型推断
21397063 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DPY19L2 蛋白结构

Dpy19

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

  • 0
  • 200
  • 400
  • 600
  • 758 a.a.
蛋白主名 其他名称

probable C-mannosyltransferase DPY19L2

protein dpy-19 homolog 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03976 DPY19L2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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