SMPDL3A (sphingomyelin phosphodiesterase acid like 3A)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10924
Gene name Gene Name - the full gene name approved by the HGNC.
Sphingomyelin phosphodiesterase acid like 3A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMPDL3A
Synonyms (NCBI Gene) Gene synonyms aliases
ASM3A, ASML3a, yR36GH4.1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.31
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0004767 Function Sphingomyelin phosphodiesterase activity IDA 26783088
GO:0005515 Function Protein binding IPI 12442002
GO:0005615 Component Extracellular space IBA 21873635
GO:0005615 Component Extracellular space IDA 25288789
GO:0005615 Component Extracellular space IMP 26783088
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610728 17389 ENSG00000172594
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 20864642 ClinVar
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Associate 31612869
Kidney Diseases Associate 25144372
Malaria Cerebral Associate 33942992
Neoplasms Associate 25144372
Niemann Pick Diseases Associate 26783088
Rectal Neoplasms Associate 37895091