SPAG17 - sperm associated antigen 17 Gene

Homo sapiens

Also known as PF6; CT143; SPGF55

Gene ID: 200162 | Gene type: protein coding

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

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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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13622	SPAG17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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