Gene Gene information from NCBI Gene database.
Entrez ID 4090
Gene name SMAD family member 5
Gene symbol SMAD5
Synonyms (NCBI Gene)
DWFCJV5-1MADH5
Chromosome 5
Chromosome location 5q31.1
Summary The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins typ
miRNA miRNA information provided by mirtarbase database.
1299
miRTarBase ID miRNA Experiments Reference
MIRT000973 hsa-miR-155-5p Luciferase reporter assay 18367535
MIRT000973 hsa-miR-155-5p Luciferase reporter assay 18367535
MIRT000973 hsa-miR-155-5p immunoblotLuciferase reporter assayqRT-PCRWestern blot 20133617
MIRT000973 hsa-miR-155-5p immunoblotLuciferase reporter assayqRT-PCRWestern blot 20133617
MIRT000973 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 20427544
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
81
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000785 Component Chromatin NAS 9759503
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603110 6771 ENSG00000113658
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99717
Protein name Mothers against decapentaplegic homolog 5 (MAD homolog 5) (Mothers against DPP homolog 5) (JV5-1) (SMAD family member 5) (SMAD 5) (Smad5) (hSmad5)
Protein function Transcriptional regulator that plays a role in various cellular processes including embryonic development, cell differentiation, angiogenesis and tissue homeostasis (PubMed:12064918, PubMed:16516194). Upon BMP ligand binding to their receptors a
PDB 6FZS , 6TCE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03165 MH1 31 132 MH1 domain Domain
PF03166 MH2 269 441 MH2 domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MTSMASLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEELEKALSSPG
QPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLDICEFPFGSKQKE
VCINPYHYKRVE
SPVLPPVLVPRHNEFNPQHSLLVQFRNLSHNEPHMPQNATFPDSFHQP
NNTPFPLSPNSPYPPSPASSTYPNSPASSGPGSPFQLPADTPPPAYMPPDDQMGQDNSQP
MDTSNNMIPQIMPSISSRDVQPVAYEEPKHWCSIVYYELNNRVGEAFHASSTSVLVDGFT
DPSNNKSRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNC
NFHHGFHPTTVCKIPSSCSLKIFNNQEFAQLLAQSVNHGFEAVYELTKMCTIRMSFVKGW
GAEYHRQDVTSTPCWIEIHLH
GPLQWLDKVLTQMGSPLNPISSVS
Sequence length 465
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hormone signaling
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
  Signaling by BMP
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME CTD
★★☆☆☆
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
Acute monocytic leukemia Monocytic Leukemia BEFREE 12064918
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26543233
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36764297 Associate
★☆☆☆☆
Found in Text Mining only
Arteriovenous Malformations Arteriovenous malformations Pubtator 32962750 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 26215036 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29207686
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32345959, 36194598 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39337574 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31557058 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 14670176, 34978464 Associate
★☆☆☆☆
Found in Text Mining only