SPATA19 (spermatogenesis associated 19)

Gene

• Entrez ID: 219938
• Gene name: Spermatogenesis associated 19
• Gene symbol: SPATA19
• Synonyms (NCBI Gene): CT132, SPAS1, spergen1
• Chromosome: 11
• Chromosome location: 11q25

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002007	mmu-miR-30e-3p	Luciferase reporter assay	17726050
MIRT1382299	hsa-miR-1287	CLIP-seq
MIRT1382300	hsa-miR-3135b	CLIP-seq
MIRT1382301	hsa-miR-4725-5p	CLIP-seq
MIRT1382302	hsa-miR-504	CLIP-seq
MIRT1382303	hsa-miR-552	CLIP-seq
MIRT1382304	hsa-miR-711	CLIP-seq
MIRT2114318	hsa-let-7a	CLIP-seq
MIRT2114319	hsa-let-7b	CLIP-seq
MIRT2114320	hsa-let-7c	CLIP-seq
MIRT2114321	hsa-let-7d	CLIP-seq
MIRT2114322	hsa-let-7e	CLIP-seq
MIRT2114323	hsa-let-7f	CLIP-seq
MIRT2114324	hsa-let-7g	CLIP-seq
MIRT2114325	hsa-let-7i	CLIP-seq
MIRT2114326	hsa-miR-214	CLIP-seq
MIRT2114327	hsa-miR-3192	CLIP-seq
MIRT2114328	hsa-miR-3619-5p	CLIP-seq
MIRT2114329	hsa-miR-3689a-3p	CLIP-seq
MIRT2114330	hsa-miR-3689c	CLIP-seq
MIRT2114331	hsa-miR-3927	CLIP-seq
MIRT2114332	hsa-miR-4270	CLIP-seq
MIRT2114333	hsa-miR-4441	CLIP-seq
MIRT2114334	hsa-miR-4451	CLIP-seq
MIRT2114335	hsa-miR-4458	CLIP-seq
MIRT2114336	hsa-miR-4500	CLIP-seq
MIRT2114337	hsa-miR-4728-5p	CLIP-seq
MIRT2114338	hsa-miR-576-3p	CLIP-seq
MIRT2114339	hsa-miR-761	CLIP-seq
MIRT2114340	hsa-miR-98	CLIP-seq
MIRT2337323	hsa-miR-1289	CLIP-seq
MIRT2114326	hsa-miR-214	CLIP-seq
MIRT1382300	hsa-miR-3135b	CLIP-seq
MIRT2337324	hsa-miR-3198	CLIP-seq
MIRT2114328	hsa-miR-3619-5p	CLIP-seq
MIRT2114332	hsa-miR-4270	CLIP-seq
MIRT2337325	hsa-miR-4294	CLIP-seq
MIRT2337326	hsa-miR-4309	CLIP-seq
MIRT2114333	hsa-miR-4441	CLIP-seq
MIRT2114339	hsa-miR-761	CLIP-seq
MIRT2337327	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030382	Process	Sperm mitochondrion organization	IBA
GO:0030382	Process	Sperm mitochondrion organization	IEA
GO:0030382	Process	Sperm mitochondrion organization	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0097225	Component	Sperm midpiece	IBA
GO:0097225	Component	Sperm midpiece	IEA
GO:0097225	Component	Sperm midpiece	ISS

Other IDs

• MIM: 609805
• HGNC: 30614
• e!Ensembl: ENSG00000166118

Protein

• UniProt ID: Q7Z5L4
• Protein name: Spermatogenesis-associated protein 19, mitochondrial (Spermatogenic cell-specific gene 1 protein) (Spergen-1)
• Protein function: Essential for sperm motility and male fertility (By similarity). Plays an important role in sperm motility by regulating the organization and function of the mitochondria and is also required for correct sperm midpiece assembly (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15212	SPATA19	25 → 66	Spermatogenesis-associated protein 19, mitochondrial	Family
  PF15212	SPATA19	62 → 167	Spermatogenesis-associated protein 19, mitochondrial	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed specifically in testis. {ECO:0000269|PubMed:12688595}.
• Sequence:

  MIITTWIVYILARKGVGLPFLPITSSDIDVVESEAVSVLHHWLKKTEEEASRGIKEKLSI
  NHPSQGVREKMSTDSPPTHGQDIHVTRDVVKHHLSKSDLLANQSQEVLEERTRIQFIRWS
  HTRIFQVPSEMTEDIMRDRIEQVRRSISRLTDVSAQDFSMRPSSSDC

• Sequence length: 167

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Parkinson Disease	Associate	28867149	★★☆☆☆ Found in Text Mining + Unknown/Other Associations