Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4090
Gene name Gene Name - the full gene name approved by the HGNC.
SMAD family member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMAD5
Synonyms (NCBI Gene) Gene synonyms aliases
DWFC, JV5-1, MADH5
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 20133617
MIRT000973 hsa-miR-155-5p immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 20133617
MIRT000973 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 20427544
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 28369590
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603110 6771 ENSG00000113658
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
20079400
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
18298822
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 18008360
Alzheimer Disease Associate 36764297
Arteriovenous Malformations Associate 32962750
Arthritis Rheumatoid Associate 26215036
Breast Neoplasms Associate 32345959, 36194598
Breast Neoplasms Stimulate 39337574
Calcinosis Cutis Associate 27662660, 30683863
Carcinogenesis Stimulate 31557058
Carcinoma Hepatocellular Associate 14670176, 34978464
Carcinoma Ovarian Epithelial Associate 34110955