Gene Gene information from NCBI Gene database.
Entrez ID 389432
Gene name Sterile alpha motif domain containing 5
Gene symbol SAMD5
Synonyms (NCBI Gene)
dJ875H10.1
Chromosome 6
Chromosome location 6q24.3
miRNA miRNA information provided by mirtarbase database.
338
miRTarBase ID miRNA Experiments Reference
MIRT030748 hsa-miR-21-5p Microarray 18591254
MIRT437613 hsa-miR-145-5p MicroarrayqRT-PCR 22815788
MIRT654029 hsa-miR-3654 HITS-CLIP 19536157
MIRT654028 hsa-miR-1243 HITS-CLIP 19536157
MIRT654027 hsa-miR-4738-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IDA 28388653
GO:0005737 Component Cytoplasm IEA
GO:1902531 Process Regulation of intracellular signal transduction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620517 21180 ENSG00000203727
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TGI4
Protein name Sterile alpha motif domain-containing protein 5 (SAM domain-containing protein 5)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 3 63 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Detected in biliary epithelial cells on bile ducts at the hepatic hilum (at protein level). {ECO:0000269|PubMed:28388653}.
Sequence
MCTNIVYEWLKALQLPQYAESFVDNGYDDLEVCKQIGDPDLDAIGVLAPAHRRRILEAVR
RLR
EQDANAAGLYFTLEPQPAPPGPPADAVPTGRRGEPCGGPAQGTRGDSRGHTTAPRSR
ELVSYPKLKLKIMIRDKLVRDGIHLSKPPYSRKVPMAGILEYLMNWPKSSQSR
Sequence length 173
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chordoma Chordoma Pubtator 27901492 Associate
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 30718901
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate Prostate cancer BEFREE 30739268
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28388653, 30739268
★☆☆☆☆
Found in Text Mining only
Myopia, Degenerative Myopia GWASCAT_DG 23049088
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 33172452 Associate
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 30739268
★☆☆☆☆
Found in Text Mining only