Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
389432
Gene name Gene Name - the full gene name approved by the HGNC.
Sterile alpha motif domain containing 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SAMD5
Synonyms (NCBI Gene) Gene synonyms aliases
dJ875H10.1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030748 hsa-miR-21-5p Microarray 18591254
MIRT437613 hsa-miR-145-5p Microarray, qRT-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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620517 21180 ENSG00000203727
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Lung adenocarcinoma Familial lung adenocarcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Chordoma Associate 27901492
Neuroblastoma Associate 33172452
Skull Base Neoplasms Associate 27901492