Gene Gene information from NCBI Gene database.
Entrez ID 142891
Gene name Sterile alpha motif domain containing 8
Gene symbol SAMD8
Synonyms (NCBI Gene)
HEL-177SMSr
Chromosome 10
Chromosome location 10q22.2
miRNA miRNA information provided by mirtarbase database.
1030
miRTarBase ID miRNA Experiments Reference
MIRT018718 hsa-miR-335-5p Microarray 18185580
MIRT028109 hsa-miR-93-5p Sequencing 20371350
MIRT028219 hsa-miR-33a-5p Sequencing 20371350
MIRT028307 hsa-miR-32-5p Sequencing 20371350
MIRT031238 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 19506037
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611575 26320 ENSG00000156671
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96LT4
Protein name Sphingomyelin synthase-related protein 1 (SMSr) (EC 2.7.8.-) (Ceramide phosphoethanolamine synthase) (CPE synthase) (Sterile alpha motif domain-containing protein 8) (SAM domain-containing protein 8)
Protein function Synthesizes sphingolipids through transfer of a phosphatidyl head group from a glycerophospholipid on to the primary hydroxyl of a ceramide in the lumen of the endoplasmic reticulum (PubMed:19506037, PubMed:38388831). Catalyzes the synthesis of
PDB 8IJQ , 8IJR , 8W9W , 8W9Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 10 76 SAM domain (Sterile alpha motif) Domain
PF14360 PAP2_C 292 365 PAP2 superfamily C-terminal Domain
Sequence
MAGPNQLCIRRWTTKHVAVWLKDEGFFEYVDILCNKHRLDGITLLTLTEYDLRSPPLEIK
VLGDIKRLMLSVRKLQ
KIHIDVLEEMGYNSDSPMGSMTPFISALQSTDWLCNGELSHDCD
GPITDLNSDQYQYMNGKNKHSVRRLDPEYWKTILSCIYVFIVFGFTSFIMVIVHERVPDM
QTYPPLPDIFLDSVPRIPWAFAMTEVCGMILCYIWLLVLLLHKHRSILLRRLCSLMGTVF
LLRCFTMFVTSLSVPGQHLQCTGKIYGSVWEKLHRAFAIWSGFGMTLTGVHTCGDYMFSG
HTVVLTMLNFFVTEYTPRSWNFLHTLSWVLNLFGIFFILAAHEHYSIDVFIAFYITTRLF
LYYHT
LANTRAYQQSRRARIWFPMFSFFECNVNGTVPNEYCWPFSKPAIMKRLIG
Sequence length 415
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism   Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Glioma Associate 37934565
★☆☆☆☆
Found in Text Mining only
Huntington Disease Associate 28659495
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 28659495
★☆☆☆☆
Found in Text Mining only