SMPDL3A (sphingomyelin phosphodiesterase acid like 3A)

Gene

• Entrez ID: 10924
• Gene name: Sphingomyelin phosphodiesterase acid like 3A
• Gene symbol: SMPDL3A
• Synonyms (NCBI Gene): ASM3A, ASML3a, yR36GH4.1
• Chromosome: 6
• Chromosome location: 6q22.31

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018214	hsa-miR-335-5p	Microarray	18185580
MIRT022831	hsa-miR-124-3p	Microarray	18668037
MIRT029820	hsa-miR-26b-5p	Microarray	19088304
MIRT439579	hsa-miR-376a-5p	HITS-CLIP	24374217
MIRT439579	hsa-miR-376a-5p	HITS-CLIP	24374217
MIRT1373899	hsa-miR-380	CLIP-seq
MIRT1373900	hsa-miR-3924	CLIP-seq
MIRT1373901	hsa-miR-4495	CLIP-seq
MIRT1373902	hsa-miR-4797-3p	CLIP-seq
MIRT1373903	hsa-miR-495	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	IDA	26783088
GO:0005515	Function	Protein binding	IPI	12442002
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	28104755
GO:0005615	Component	Extracellular space	IDA	25288789
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	37890481
GO:0005615	Component	Extracellular space	IMP	26783088
GO:0006685	Process	Sphingomyelin catabolic process	IDA	26783088
GO:0008081	Function	Phosphoric diester hydrolase activity	IBA
GO:0008081	Function	Phosphoric diester hydrolase activity	IDA	26783088, 28104755
GO:0008081	Function	Phosphoric diester hydrolase activity	IMP	37890481
GO:0008270	Function	Zinc ion binding	IDA	26783088
GO:0009143	Process	Nucleoside triphosphate catabolic process	IDA	26783088
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017111	Function	Ribonucleoside triphosphate phosphatase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IEA
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IMP	37890481

Other IDs

• MIM: 610728
• HGNC: 17389
• e!Ensembl: ENSG00000172594

Protein

• UniProt ID: Q92484
• Protein name: Cyclic GMP-AMP phosphodiesterase SMPDL3A (2',3'-cGAMP phosphodiesterase SMPDL3A) (EC 3.1.4.-) (Acid sphingomyelinase-like phosphodiesterase 3a) (ASM-like phosphodiesterase 3a) (EC 3.6.1.15)
• Protein function: Cyclic-nucleotide phosphodiesterase that acts as a negative regulator of innate immunity by mediating degradation of 2',3'-cGAMP, thereby inhibiting the cGAS-STING signaling (PubMed:37890481). Specifically linearizes 2',3'-cGAMP into 2'5'-bond p
• PDB: 5EBB, 5EBE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00149	Metallophos	38 → 297	Calcineurin-like phosphoesterase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood serum. Detected in macrophages (at protein level). {ECO:0000269|PubMed:25288789}.
• Sequence:

  MALVRALVCCLLTAWHCRSGLGLPVAPAGGRNPPPAIGQFWHVTDLHLDPTYHITDDHTK
  VCASSKGANASNPGPFGDVLCDSPYQLILSAFDFIKNSGQEASFMIWTGDSPPHVPVPEL
  STDTVINVITNMTTTIQSLFPNLQVFPALGNHDYWPQDQLPVVTSKVYNAVANLWKPWLD
  EEAISTLRKGGFYSQKVTTNPNLRIISLNTNLYYGPNIMTLNKTDPANQFEWLESTLNNS
  QQNKEKVYIIAHVPVGYLPSSQNITAMREYYNEKLIDIFQKYSDVIAGQFYGHTHRDSIM
  VLSDKKGSPVNSLFVAPAVTPVKSVLEKQTNNPGIRLFQYDPRDYKLLDMLQYYLNLTEA
  NLKGESIWKLEYILTQTYDIEDLQPESLYGLAKQFTILDSKQFIKYYNYFFVSYDSSVTC
  DKTCKAFQICAIMNLDNISYADCLKQLYIKHNY

• Sequence length: 453

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
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12442002		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31612869	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	25144372	Associate	★☆☆☆☆ Found in Text Mining only
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	26783088		★☆☆☆☆ Found in Text Mining only