SPAG17 - sperm associated antigen 17 Gene

Also Known as PF6; CT143; SPGF55

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 200162

About 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.

Summary

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 Products (1)

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

SPAG17 Protein Structure

PapD-like

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

  • 0
  • 400
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  • 2000
  • 2223 a.a.
Protein Preferred Names Protein Names

sperm-associated antigen 17

  • projection protein PF6 homolog

Related Diseases

Diseases Alias
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS13622 SPAG17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others SPAG17 NCBI