1. Gene
  2. SPAG6 - sperm associated antigen 6 Gene

SPAG6 - sperm associated antigen 6 Gene

中文名称:精子相关抗原 6

种属: Homo sapiens

同用名: pf16; CT141; FAP194; CFAP194; Repro-SA-1

基因 ID: 9576 | 基因类型: protein coding

关于 SPAG6

Cytogenetic location: 10p12.2 Genomic coordinates (GRCh38): 10:22,345,496-22,417,610 (from NCBI)

This gene has 9 transcripts (splice variants) and 225 orthologues. Restricted expression toward testis (RPKM 51.7).

功能概要

抗精子抗体与不明原因不孕症病例的相关性暗示了这些抗体在阻断受精方面的作用。改进免疫性不孕症的诊断和治疗,以及用于靶向避孕的蛋白质鉴定,都取决于相关精子抗原的鉴定和表征。该基因表达的蛋白质被不育男性的抗精子抗体识别。这种蛋白质定位于透化人类精子的尾部,并包含八个连续的犰狳重复序列,这是一种已知的介导蛋白质-蛋白质相互作用的基序。小鼠研究表明,这种蛋白质参与精子鞭毛运动和维持成熟精子的结构完整性。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2011 年 12 月]

The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

SPAG6 基因产物(4)

mRNA Protein Name
NM_001253854.2 NP_001240783.1 sperm-associated antigen 6 isoform 3
NM_001253855.2 NP_001240784.1 sperm-associated antigen 6 isoform 4
NM_012443.4 NP_036575.1 sperm-associated antigen 6 isoform 1
NM_172242.3 NP_758442.1 sperm-associated antigen 6 isoform 2
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axoneme IDA
IDA: 通过直接分析推断
10493827 GOA
located in sperm principal piece IDA
IDA: 通过直接分析推断
30137358 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

SPAG6 蛋白结构

Arm

Arm: Armadillo/beta-catenin-like repeat (114 - 154)

Arm

Arm: Armadillo/beta-catenin-like repeat (157 - 195)

Arm

Arm: Armadillo/beta-catenin-like repeat (198 - 236)

Arm

Arm: Armadillo/beta-catenin-like repeat (327 - 363)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 509 a.a.
蛋白主名 其他名称

sperm-associated antigen 6

axoneme central apparatus protein

关联疾病

疾病名称 别名
Infertility
Tympanosclerosis

Ts - [Tympanosclerosis]

Tympanic Membrane Sclerosis

Tympanic Membrane Disease

Disorder Of Tympanic Membrane

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Otitis Media

Opsoclonus-Myoclonus Syndrome

OMS

Otitis Media, Susceptibility To

Kinsbourne Syndrome

Otitis Media, Chronic/Recurrent

Come/Rom

Ataxo-Opso-Myoclonus Syndrome

Dancing Eye Syndrome

Dancing Eye-Dancing Feet Syndrome

Oma Syndrome

Opsoclonus Myoclonus Syndrome

Opsoclonus-Myoclonus-Ataxia Syndrome

Poma Syndrome

Paraneoplastic Opsoclonus-Myoclonus

Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome

Opsoclonus Myoclonus

OM

{Otitis Media, Susceptibility To}

Infectious Otitis Media

Cataract 4, Multiple Types

Cataract 4 Multiple Types

CTRCT4

Cca3

Pcc

Aculeiform Cataract

Cataract 4, Multiple Types, With Or Without Microcornea

Cataract, Crystalline Aculeiform

Caca

Cataract, Congenital, Cerulean Type, 3

Congenital Cataract Cerulean Type 3

Cataract Congenital Dominant Non Nuclear

Ccp

Cataract, Nonnuclear Polymorphic Congenital

Cataract, Punctate, Progressive Juvenile-Onset

Cataract 4 Multiple Types With Or Without Microcornea

Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract

Cataract, Polymorphic Congenital

Congenital Cataract Blue Dot Type 3

Congenital Non-Nuclear Polymorphic Cataract

Crystalline Aculeiform Cataract

Punctate, Progressive Juvenile-Onset, Cataract

Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

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

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus SPAG6 VGNC VGNC:35167
Canis familiaris SPAG6 VGNC VGNC:46696
Macaca mulatta SPAG6 VGNC VGNC:77851
Rattus norvegicus SPAG6 RGD RGD:1305616
Mus musculus SPAG6 MGD MGI:3040687
Felis catus SPAG6 VGNC VGNC:65597