2. Gene
  3. SPAG17 - sperm associated antigen 17 Gene

SPAG17 - sperm associated antigen 17 Gene

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

中文名称：精子相关抗原 17

种属: Homo sapiens

同用名: PF6; CT143; SPGF55

基因 ID: 200162 | 基因类型: protein coding

关于 SPAG17

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:117,953,590-118,185,228 (from NCBI)

This gene has 13 transcripts (splice variants), 171 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 9.4), esophagus (RPKM 2.4) and 3 other tissues.

功能概要

该基因编码存在于具有“9 + 2”微管组织的细胞轴丝中的中央对蛋白质。轴丝的正常功能需要编码的蛋白质。小鼠直系同源基因的突变导致原发性纤毛运动障碍，其特征是鼻和气管纤毛不动、鼻粘液清除减少、严重呼吸窘迫、脑积水，以及出生后 12 小时内由于气道粘膜纤毛清除受损导致的新生儿死亡。该基因的单核苷酸多态性与人类身高有关，靶向突变会导致影响小鼠四肢的骨骼畸形，表明该基因在骨骼发育中发挥作用。[RefSeq 提供，2017 年 2 月]

This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]

SPAG17 基因产物(1)

mRNA Protein Name
NM_206996.4 NP_996879.1 sperm-associated antigen 17

SPAG17 蛋白结构

PapD-like

PapD-like: Flagellar-associated PapD-like (2076 - 2150)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2223 a.a.
蛋白主名 其他名称

sperm-associated antigen 17

projection protein PF6 homolog

关联疾病

疾病名称 别名
Spermatogenic Failure 55

SPGF55
Non-Syndromic Male Infertility Due To Sperm Motility Disorder

Non-Syndromic Male Infertility Due Asthenozoospermia
Cranioectodermal Dysplasia 2

CED2

Sensenbrenner Syndrome 2

Dysplasia, Cranioectodermal, Type 2
Acromesomelic Dysplasia 2b

Fibular Hypoplasia And Complex Brachydactyly

Du Pan Syndrome

AMD2B

Dupans

Acromesomelic Dysplasia-2b

Fibular Aplasia-Complex Brachydactyly Syndrome
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos
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
Lymphogranuloma Venereum

Climatic Or Tropical Bubo

Durand-Nicolas-Favre Disease

Lymphogranuloma Inguinale

Poradenitis Inguinale

Strumous Bubo

Lgv
Granuloma Inguinale

Donovanosis

Pudendal Ulcer

Granuloma Inguinale Tropicum

Granuloma Pudendi Tropicum
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
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-RS13622 SPAG17 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SPAG17 VGNC VGNC:35165
Rattus norvegicus SPAG17 RGD RGD:1592218
Canis familiaris SPAG17 VGNC VGNC:46695
Mus musculus SPAG17 MGD MGI:1921612
Macaca mulatta SPAG17 VGNC VGNC:100146
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