SMAD4 (SMAD family member 4)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4089 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SMAD family member 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SMAD4 |
SynonymsGene synonyms aliases
|
DPC4, JIP, MADH4, MYHRS |
ChromosomeChromosome number
|
18 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
18q21.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017] |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs7238500 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs80338963 |
C>A,G,T |
Not-provided, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs80338964 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80338965 |
CAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs121912576 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs121912577 |
C>G,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant |
| rs121912578 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs121912579 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs121912580 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs121912581 |
G>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
| rs138386557 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs140743238 |
C>A,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs149755320 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs200772603 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
| rs281875320 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
| rs281875321 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs281875322 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs281875324 |
A>C,G |
Pathogenic, likely-pathogenic, not-provided |
Missense variant, coding sequence variant |
| rs377767323 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767324 |
->AT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767325 |
->TGTCTGT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767326 |
C>A,T |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant, stop gained |
| rs377767327 |
A>G |
Uncertain-significance, pathogenic |
Intron variant |
| rs377767328 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767329 |
T>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767330 |
GTCCACTGAAGG>- |
Pathogenic |
Inframe deletion, coding sequence variant |
| rs377767331 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767332 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767333 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767334 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767335 |
->GCCC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767336 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767338 |
->GCAT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767339 |
T>C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs377767340 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767341 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767342 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767343 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767344 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767345 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767346 |
A>C,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs377767347 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs377767348 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767349 |
GTT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
| rs377767350 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767351 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767352 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767354 |
G>A |
Pathogenic |
Splice donor variant |
| rs377767355 |
T>A,C,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs377767356 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767357 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767358 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767359 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767360 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767361 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs377767362 |
AGCAGCAGGCGGCTACTGCACAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767363 |
CACA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767364 |
->CCCT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767365 |
GGCCCAGGATCAGTAGGTGGAATAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767366 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767367 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767368 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767369 |
T>A,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs377767370 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767371 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767372 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767373 |
AG>-,AGAGAG |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs377767374 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767375 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767376 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767377 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767378 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767379 |
CC>T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767380 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767381 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs377767382 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
| rs377767383 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs377767384 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767385 |
GAAGTACTTCATAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs377767386 |
G>A |
Pathogenic |
Splice donor variant |
| rs377767387 |
G>A |
Pathogenic |
Splice donor variant |
| rs397518413 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs483352871 |
A>- |
Pathogenic |
Intron variant |
| rs587780124 |
GCGGCTACTGCACAAGCTGCAGCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs587781359 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs587781618 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs587782209 |
AG>CC |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs587783060 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs727504151 |
T>AAATATGAAC |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
| rs730881952 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs730881954 |
C>A,G,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs730881956 |
->CG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs730881957 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs746084369 |
C>G,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs757971589 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs773615487 |
T>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs779069779 |
C>A,G,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant |
| rs786201200 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs786203560 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs786204125 |
->GCTACTGCACAAGCTGCAGCAGCTGCCC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs786205514 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs863224400 |
C>G,T |
Likely-benign, likely-pathogenic |
Synonymous variant, stop gained, coding sequence variant |
| rs863224507 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs864622252 |
TT>-,T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs869312781 |
CCCCATCCCG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658694 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs876660079 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs876660150 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660556 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs876660720 |
AGGCGGCTACTGCACAAGCTGCAGCAGC>-,AGGCGGCTACTGCACAAGCTGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGC |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs878854765 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs878854769 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs956212866 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1057519739 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
| rs1057519740 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs1057519741 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs1057519962 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1060500733 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1060500734 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1060500738 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1060500739 |
AAGGA>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs1060500740 |
T>C |
Likely-pathogenic |
Splice donor variant |
| rs1060500742 |
GGCCTCAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1060500744 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1064793271 |
TCAGCCTGCCAGTATACTGGGGG>- |
Pathogenic |
Splice acceptor variant, coding sequence variant |
| rs1064795175 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1064796471 |
AT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1295343500 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs1316902116 |
C>G,T |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant, stop gained |
| rs1449334786 |
C>G,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs1555685142 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1555685149 |
G>A,C |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs1555685156 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555685159 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555685248 |
T>C |
Likely-pathogenic |
Splice donor variant |
| rs1555685624 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555685925 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555685974 |
->CATTACTG |
Pathogenic |
Splice donor variant, coding sequence variant |
| rs1555685978 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555686070 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1555686071 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555686086 |
G>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
| rs1555686469 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555686503 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555686506 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555686594 |
G>A |
Pathogenic |
Splice acceptor variant |
| rs1555686600 |
TG>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555686604 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555686608 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555686610 |
CTT>- |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
| rs1555686616 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1555686624 |
T>C |
Pathogenic |
Splice donor variant |
| rs1555687377 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1555687378 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555687386 |
->CCCT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555687387 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555687388 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555687572 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1555687599 |
->TA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555687605 |
A>G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1568206107 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs1568206602 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1568208715 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
| rs1568211187 |
AGCAGCAGGCGGCTACTGCACAAGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1568211588 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1599181081 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1599181251 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1599182571 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs1599182586 |
CC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1599182906 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1599195400 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs1599195433 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1599195489 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1599196995 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1599197105 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1599204042 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1599204121 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1599204140 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
miRNAmiRNA information provided by mirtarbase database.
|
| miRTarBase ID |
miRNA |
Experiments |
Reference |
| MIRT003803 |
hsa-miR-26a-5p |
Western blot |
20857419 |
| MIRT003803 |
hsa-miR-26a-5p |
Luciferase reporter assay |
23028144 |
| MIRT004118 |
hsa-miR-483-3p |
Luciferase reporter assay, qRT-PCR, Western blot |
21112326 |
| MIRT004118 |
hsa-miR-483-3p |
Luciferase reporter assay, qRT-PCR, Western blot |
26747772 |
| MIRT004736 |
hsa-miR-18a-5p |
Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR, Western blot |
20940405 |
| MIRT005629 |
hsa-miR-17-5p |
Luciferase reporter assay, Microarray |
20940405 |
| MIRT005629 |
hsa-miR-17-5p |
Luciferase reporter assay |
24220575 |
| MIRT005629 |
hsa-miR-17-5p |
PAR-CLIP |
23446348 |
| MIRT005629 |
hsa-miR-17-5p |
PAR-CLIP |
21572407 |
| MIRT005629 |
hsa-miR-17-5p |
PAR-CLIP |
20371350 |
| MIRT005630 |
hsa-miR-19a-3p |
Luciferase reporter assay, Microarray |
20940405 |
| MIRT005630 |
hsa-miR-19a-3p |
Luciferase reporter assay |
24220575 |
| MIRT005630 |
hsa-miR-19a-3p |
PAR-CLIP |
23446348 |
| MIRT005630 |
hsa-miR-19a-3p |
PAR-CLIP |
21572407 |
| MIRT005630 |
hsa-miR-19a-3p |
PAR-CLIP |
20371350 |
| MIRT005630 |
hsa-miR-19a-3p |
Luciferase reporter assay |
23998804 |
| MIRT005631 |
hsa-miR-20a-5p |
Microarray |
20940405 |
| MIRT005631 |
hsa-miR-20a-5p |
PAR-CLIP |
23446348 |
| MIRT005631 |
hsa-miR-20a-5p |
PAR-CLIP |
21572407 |
| MIRT005631 |
hsa-miR-20a-5p |
PAR-CLIP |
20371350 |
| MIRT005631 |
hsa-miR-20a-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
27286257 |
| MIRT005632 |
hsa-miR-92a-3p |
Microarray |
20940405 |
| MIRT006038 |
hsa-miR-203a-3p |
Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot |
21159887 |
| MIRT006190 |
hsa-miR-421 |
Luciferase reporter assay, qRT-PCR, Western blot |
21352803 |
| MIRT006209 |
hsa-miR-146a-5p |
Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot |
22507670 |
| MIRT006209 |
hsa-miR-146a-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
21968601 |
| MIRT006209 |
hsa-miR-146a-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
22020746 |
| MIRT006209 |
hsa-miR-146a-5p |
Luciferase reporter assay, Western blot, qRT-PCR |
24939082 |
| MIRT006209 |
hsa-miR-146a-5p |
Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot |
23832538 |
| MIRT006209 |
hsa-miR-146a-5p |
Luciferase reporter assay |
27438138 |
| MIRT006527 |
hsa-miR-224-5p |
Luciferase reporter assay, Western blot |
20118412 |
| MIRT006527 |
hsa-miR-224-5p |
qRT-PCR, Western blot |
23922662 |
| MIRT006527 |
hsa-miR-224-5p |
Luciferase reporter assay, Western blot |
25804630 |
| MIRT006809 |
hsa-miR-125a-5p |
Luciferase reporter assay, Western blot |
22357933 |
| MIRT006810 |
hsa-miR-125b-5p |
Luciferase reporter assay, Western blot |
22357933 |
| MIRT007013 |
hsa-miR-199a-5p |
Luciferase reporter assay |
22821565 |
| MIRT007013 |
hsa-miR-199a-5p |
Luciferase reporter assay |
22819820 |
| MIRT007144 |
hsa-miR-130a-3p |
qRT-PCR |
23418453 |
| MIRT007144 |
hsa-miR-130a-3p |
Luciferase reporter assay |
23393589 |
| MIRT007144 |
hsa-miR-130a-3p |
Microarray |
22942087 |
| MIRT007144 |
hsa-miR-130a-3p |
PAR-CLIP |
23446348 |
| MIRT007144 |
hsa-miR-130a-3p |
PAR-CLIP |
21572407 |
| MIRT007144 |
hsa-miR-130a-3p |
PAR-CLIP |
20371350 |
| MIRT007144 |
hsa-miR-130a-3p |
Luciferase reporter assay |
26817584 |
| MIRT007250 |
hsa-miR-301a-3p |
Luciferase reporter assay |
23393589 |
| MIRT007250 |
hsa-miR-301a-3p |
PAR-CLIP |
23446348 |
| MIRT007250 |
hsa-miR-301a-3p |
PAR-CLIP |
21572407 |
| MIRT007250 |
hsa-miR-301a-3p |
PAR-CLIP |
20371350 |
| MIRT007250 |
hsa-miR-301a-3p |
Luciferase reporter assay, qRT-PCR, Western blot |
26019136 |
| MIRT007250 |
hsa-miR-301a-3p |
Luciferase reporter assay |
26640587 |
| MIRT007251 |
hsa-miR-454-3p |
Luciferase reporter assay |
23393589 |
| MIRT007251 |
hsa-miR-454-3p |
Flow, Luciferase reporter assay, qRT-PCR, Western blot |
24685242 |
| MIRT007251 |
hsa-miR-454-3p |
PAR-CLIP |
23446348 |
| MIRT007251 |
hsa-miR-454-3p |
PAR-CLIP |
21572407 |
| MIRT007251 |
hsa-miR-454-3p |
PAR-CLIP |
20371350 |
| MIRT007306 |
hsa-miR-182-5p |
Luciferase reporter assay |
23226455 |
| MIRT020189 |
hsa-miR-130b-3p |
Sequencing, PAR-CLIP |
20371350 |
| MIRT020189 |
hsa-miR-130b-3p |
Luciferase reporter assay |
24220575 |
| MIRT020189 |
hsa-miR-130b-3p |
PAR-CLIP |
23446348 |
| MIRT020189 |
hsa-miR-130b-3p |
PAR-CLIP |
21572407 |
| MIRT020774 |
hsa-miR-155-5p |
Western blot |
21036908 |
| MIRT021160 |
hsa-miR-186-5p |
Sequencing |
20371350 |
| MIRT028004 |
hsa-miR-93-5p |
Sequencing, PAR-CLIP |
20371350 |
| MIRT028004 |
hsa-miR-93-5p |
PAR-CLIP |
23446348 |
| MIRT028004 |
hsa-miR-93-5p |
PAR-CLIP |
21572407 |
| MIRT031156 |
hsa-miR-19b-3p |
Sequencing, PAR-CLIP |
20371350 |
| MIRT031156 |
hsa-miR-19b-3p |
PAR-CLIP |
23446348 |
| MIRT031156 |
hsa-miR-19b-3p |
PAR-CLIP |
21572407 |
| MIRT031156 |
hsa-miR-19b-3p |
Luciferase reporter assay |
23998804 |
| MIRT053029 |
hsa-miR-204-5p |
Luciferase reporter assay, Western blot |
23221074 |
| MIRT053328 |
hsa-miR-1260b |
Luciferase reporter assay, qRT-PCR, Western blot |
23591200 |
| MIRT053328 |
hsa-miR-1260b |
Luciferase reporter assay, Western blot |
24504368 |
| MIRT053378 |
hsa-miR-205-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
23800974 |
| MIRT053460 |
hsa-miR-452-5p |
Microarray |
23807165 |
| MIRT053653 |
hsa-miR-145-5p |
Microarray |
22942087 |
| MIRT054867 |
hsa-miR-183-5p |
Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot |
23538390 |
| MIRT054867 |
hsa-miR-183-5p |
PAR-CLIP |
20371350 |
| MIRT080224 |
hsa-miR-106a-5p |
PAR-CLIP |
23446348 |
| MIRT080224 |
hsa-miR-106a-5p |
PAR-CLIP |
21572407 |
| MIRT080224 |
hsa-miR-106a-5p |
PAR-CLIP |
20371350 |
| MIRT080225 |
hsa-miR-106b-5p |
PAR-CLIP |
23446348 |
| MIRT080225 |
hsa-miR-106b-5p |
PAR-CLIP |
21572407 |
| MIRT080225 |
hsa-miR-106b-5p |
PAR-CLIP |
20371350 |
| MIRT080226 |
hsa-miR-20b-5p |
PAR-CLIP |
23446348 |
| MIRT080226 |
hsa-miR-20b-5p |
PAR-CLIP |
21572407 |
| MIRT080226 |
hsa-miR-20b-5p |
PAR-CLIP |
20371350 |
| MIRT080227 |
hsa-miR-519c-3p |
PAR-CLIP |
23446348 |
| MIRT080227 |
hsa-miR-519c-3p |
PAR-CLIP |
21572407 |
| MIRT080227 |
hsa-miR-519c-3p |
PAR-CLIP |
20371350 |
| MIRT080228 |
hsa-miR-526b-3p |
PAR-CLIP |
23446348 |
| MIRT080228 |
hsa-miR-526b-3p |
PAR-CLIP |
21572407 |
| MIRT080228 |
hsa-miR-526b-3p |
PAR-CLIP |
20371350 |
| MIRT080229 |
hsa-miR-519b-3p |
PAR-CLIP |
23446348 |
| MIRT080229 |
hsa-miR-519b-3p |
PAR-CLIP |
21572407 |
| MIRT080229 |
hsa-miR-519b-3p |
PAR-CLIP |
20371350 |
| MIRT080230 |
hsa-miR-519d-3p |
PAR-CLIP |
23446348 |
| MIRT080230 |
hsa-miR-519d-3p |
PAR-CLIP |
21572407 |
| MIRT080230 |
hsa-miR-519d-3p |
PAR-CLIP |
20371350 |
| MIRT080231 |
hsa-miR-519a-3p |
PAR-CLIP |
23446348 |
| MIRT080231 |
hsa-miR-519a-3p |
PAR-CLIP |
21572407 |
| MIRT080231 |
hsa-miR-519a-3p |
PAR-CLIP |
20371350 |
| MIRT080232 |
hsa-miR-551b-5p |
PAR-CLIP |
21572407 |
| MIRT080233 |
hsa-miR-548c-3p |
PAR-CLIP |
23446348 |
| MIRT080233 |
hsa-miR-548c-3p |
PAR-CLIP |
21572407 |
| MIRT080233 |
hsa-miR-548c-3p |
PAR-CLIP |
20371350 |
| MIRT080234 |
hsa-miR-301b-3p |
PAR-CLIP |
23446348 |
| MIRT080234 |
hsa-miR-301b-3p |
PAR-CLIP |
21572407 |
| MIRT080234 |
hsa-miR-301b-3p |
PAR-CLIP |
20371350 |
| MIRT080235 |
hsa-miR-548f-5p |
PAR-CLIP |
23446348 |
| MIRT080235 |
hsa-miR-548f-5p |
PAR-CLIP |
21572407 |
| MIRT080235 |
hsa-miR-548f-5p |
PAR-CLIP |
20371350 |
| MIRT080236 |
hsa-miR-548g-5p |
PAR-CLIP |
23446348 |
| MIRT080236 |
hsa-miR-548g-5p |
PAR-CLIP |
21572407 |
| MIRT080236 |
hsa-miR-548g-5p |
PAR-CLIP |
20371350 |
| MIRT080237 |
hsa-miR-548t-5p |
PAR-CLIP |
23446348 |
| MIRT080237 |
hsa-miR-548t-5p |
PAR-CLIP |
21572407 |
| MIRT080237 |
hsa-miR-548t-5p |
PAR-CLIP |
20371350 |
| MIRT080238 |
hsa-miR-548x-5p |
PAR-CLIP |
23446348 |
| MIRT080238 |
hsa-miR-548x-5p |
PAR-CLIP |
21572407 |
| MIRT080238 |
hsa-miR-548x-5p |
PAR-CLIP |
20371350 |
| MIRT080239 |
hsa-miR-4295 |
PAR-CLIP |
23446348 |
| MIRT080239 |
hsa-miR-4295 |
PAR-CLIP |
21572407 |
| MIRT080239 |
hsa-miR-4295 |
PAR-CLIP |
20371350 |
| MIRT080240 |
hsa-miR-3666 |
PAR-CLIP |
23446348 |
| MIRT080240 |
hsa-miR-3666 |
PAR-CLIP |
21572407 |
| MIRT080240 |
hsa-miR-3666 |
PAR-CLIP |
20371350 |
| MIRT080241 |
hsa-miR-548aj-5p |
PAR-CLIP |
23446348 |
| MIRT080241 |
hsa-miR-548aj-5p |
PAR-CLIP |
21572407 |
| MIRT080241 |
hsa-miR-548aj-5p |
PAR-CLIP |
20371350 |
| MIRT080243 |
hsa-miR-548aw |
PAR-CLIP |
23446348 |
| MIRT080243 |
hsa-miR-548aw |
PAR-CLIP |
21572407 |
| MIRT080243 |
hsa-miR-548aw |
PAR-CLIP |
20371350 |
| MIRT080244 |
hsa-miR-548az-5p |
PAR-CLIP |
23446348 |
| MIRT080244 |
hsa-miR-548az-5p |
PAR-CLIP |
21572407 |
| MIRT080244 |
hsa-miR-548az-5p |
PAR-CLIP |
20371350 |
| MIRT080245 |
hsa-miR-6715b-3p |
PAR-CLIP |
21572407 |
| MIRT198909 |
hsa-miR-4528 |
PAR-CLIP |
20371350 |
| MIRT198918 |
hsa-miR-34a-5p |
PAR-CLIP |
20371350 |
| MIRT198918 |
hsa-miR-34a-5p |
Luciferase reporter assay, Western blot |
28348487 |
| MIRT198918 |
hsa-miR-34a-5p |
Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot |
26077733 |
| MIRT198919 |
hsa-miR-154-5p |
PAR-CLIP |
20371350 |
| MIRT198920 |
hsa-miR-34c-5p |
PAR-CLIP |
20371350 |
| MIRT198921 |
hsa-miR-449a |
PAR-CLIP |
20371350 |
| MIRT198922 |
hsa-miR-449b-5p |
PAR-CLIP |
20371350 |
| MIRT198927 |
hsa-miR-8062 |
PAR-CLIP |
20371350 |
| MIRT346455 |
hsa-miR-4668-5p |
PAR-CLIP |
23446348 |
| MIRT346455 |
hsa-miR-4668-5p |
PAR-CLIP |
21572407 |
| MIRT346455 |
hsa-miR-4668-5p |
PAR-CLIP |
20371350 |
| MIRT508703 |
hsa-miR-1468-3p |
PAR-CLIP |
23446348 |
| MIRT508703 |
hsa-miR-1468-3p |
PAR-CLIP |
21572407 |
| MIRT508703 |
hsa-miR-1468-3p |
PAR-CLIP |
20371350 |
| MIRT508704 |
hsa-miR-302a-5p |
PAR-CLIP |
23446348 |
| MIRT508704 |
hsa-miR-302a-5p |
PAR-CLIP |
21572407 |
| MIRT508704 |
hsa-miR-302a-5p |
PAR-CLIP |
20371350 |
| MIRT508705 |
hsa-miR-616-5p |
PAR-CLIP |
23446348 |
| MIRT508705 |
hsa-miR-616-5p |
PAR-CLIP |
21572407 |
| MIRT508705 |
hsa-miR-616-5p |
PAR-CLIP |
20371350 |
| MIRT508706 |
hsa-miR-373-5p |
PAR-CLIP |
23446348 |
| MIRT508706 |
hsa-miR-373-5p |
PAR-CLIP |
21572407 |
| MIRT508706 |
hsa-miR-373-5p |
PAR-CLIP |
20371350 |
| MIRT508707 |
hsa-miR-371b-5p |
PAR-CLIP |
23446348 |
| MIRT508707 |
hsa-miR-371b-5p |
PAR-CLIP |
21572407 |
| MIRT508707 |
hsa-miR-371b-5p |
PAR-CLIP |
20371350 |
| MIRT508708 |
hsa-miR-888-5p |
PAR-CLIP |
23446348 |
| MIRT508708 |
hsa-miR-888-5p |
PAR-CLIP |
21572407 |
| MIRT508708 |
hsa-miR-888-5p |
PAR-CLIP |
20371350 |
| MIRT554140 |
hsa-miR-6715a-3p |
PAR-CLIP |
21572407 |
| MIRT565564 |
hsa-miR-5701 |
PAR-CLIP |
20371350 |
| MIRT565565 |
hsa-miR-616-3p |
PAR-CLIP |
20371350 |
| MIRT565566 |
hsa-miR-548au-3p |
PAR-CLIP |
20371350 |
| MIRT565567 |
hsa-miR-8076 |
PAR-CLIP |
20371350 |
| MIRT653369 |
hsa-miR-670-3p |
HITS-CLIP |
23824327 |
| MIRT653370 |
hsa-miR-4799-5p |
HITS-CLIP |
23824327 |
| MIRT653371 |
hsa-miR-27b-3p |
HITS-CLIP |
23824327 |
| MIRT653372 |
hsa-miR-27a-3p |
HITS-CLIP |
23824327 |
| MIRT653372 |
hsa-miR-27a-3p |
ChIP-seq, Immunohistochemistry |
26600197 |
| MIRT653372 |
hsa-miR-27a-3p |
Luciferase reporter assay, qRT-PCR, Western blot |
28370334 |
| MIRT653373 |
hsa-miR-513a-5p |
HITS-CLIP |
23824327 |
| MIRT653374 |
hsa-miR-6731-3p |
HITS-CLIP |
23824327 |
| MIRT653375 |
hsa-miR-6891-3p |
HITS-CLIP |
23824327 |
| MIRT653376 |
hsa-miR-6072 |
HITS-CLIP |
23824327 |
| MIRT653377 |
hsa-miR-5582-3p |
HITS-CLIP |
23824327 |
| MIRT731606 |
hsa-miR-144-3p |
Luciferase reporter assay |
26918315 |
| MIRT731875 |
hsa-miR-574-3p |
Luciferase reporter assay, qRT-PCR, Western blot |
28105233 |
| MIRT732323 |
hsa-miR-34a-3p |
Luciferase reporter assay |
28340489 |
| MIRT733127 |
hsa-miR-31-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
26494556 |
| MIRT735483 |
hsa-miR-144-5p |
Luciferase reporter assay, qRT-PCR, Western blot |
27536132 |
| MIRT785060 |
hsa-miR-3661 |
HITS-CLIP |
27418678 |
| MIRT786756 |
hsa-miR-4783-5p |
HITS-CLIP |
27418678 |
| MIRT787882 |
hsa-miR-574-5p |
HITS-CLIP |
27418678 |
| MIRT788162 |
hsa-miR-631 |
HITS-CLIP |
27418678 |
| MIRT789220 |
hsa-miR-6867-5p |
HITS-CLIP |
27418678 |
| MIRT789963 |
hsa-miR-933 |
HITS-CLIP |
27418678 |
|
| Transcription factors
|
|
|
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 |
ISS |
|
| GO:0000122 |
Process |
Negative regulation of transcription by RNA polymerase II |
TAS |
|
| GO:0000785 |
Component |
Chromatin |
IDA |
21828274 |
| GO:0000785 |
Component |
Chromatin |
ISA |
|
| GO:0000976 |
Function |
Transcription regulatory region sequence-specific DNA binding |
IDA |
17438144 |
| 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 |
9389648, 18832382, 31582430 |
| GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IBA |
21873635 |
| GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISA |
|
| GO:0001085 |
Function |
RNA polymerase II transcription factor binding |
IEA |
|
| GO:0001223 |
Function |
Transcription coactivator binding |
IPI |
16777850 |
| GO:0001228 |
Function |
DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA |
9389648, 18832382 |
| GO:0001541 |
Process |
Ovarian follicle development |
IEA |
|
| GO:0001658 |
Process |
Branching involved in ureteric bud morphogenesis |
IEA |
|
| GO:0001666 |
Process |
Response to hypoxia |
IMP |
12411310 |
| GO:0001701 |
Process |
In utero embryonic development |
IEA |
|
| GO:0001702 |
Process |
Gastrulation with mouth forming second |
IEA |
|
| GO:0003148 |
Process |
Outflow tract septum morphogenesis |
ISS |
|
| GO:0003190 |
Process |
Atrioventricular valve formation |
ISS |
|
| GO:0003198 |
Process |
Epithelial to mesenchymal transition involved in endocardial cushion formation |
IEA |
|
| GO:0003220 |
Process |
Left ventricular cardiac muscle tissue morphogenesis |
ISS |
|
| GO:0003251 |
Process |
Positive regulation of cell proliferation involved in heart valve morphogenesis |
ISS |
|
| GO:0003360 |
Process |
Brainstem development |
IEA |
|
| GO:0003677 |
Function |
DNA binding |
IDA |
9389648 |
| GO:0003682 |
Function |
Chromatin binding |
IEA |
|
| GO:0003700 |
Function |
DNA-binding transcription factor activity |
IDA |
10823886, 17438144 |
| GO:0005515 |
Function |
Protein binding |
IPI |
9389648, 9436979, 9707553, 11278302, 11779505, 12419246, 14525983, 14612439, 14671321, 15084259, 15231748, 15350224, 15781469, 16189514, 16865698, 17099224, 17183365, 17469184, 18511908, 18568018, 18729074, 18832382, 19032343, 19135894, 20603019, 21297662, 21532621, 21597466, 219888 |
| GO:0005518 |
Function |
Collagen binding |
IEA |
|
| GO:0005634 |
Component |
Nucleus |
IDA |
9311995, 9389648, 12161428, 16007207 |
| GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
| GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
| GO:0005667 |
Component |
Transcription regulator complex |
IDA |
17438144 |
| GO:0005667 |
Component |
Transcription regulator complex |
IPI |
12374795 |
| GO:0005737 |
Component |
Cytoplasm |
IDA |
9311995, 9389648, 12161428 |
| GO:0005813 |
Component |
Centrosome |
IDA |
|
| GO:0005829 |
Component |
Cytosol |
IDA |
|
| GO:0005829 |
Component |
Cytosol |
TAS |
|
| GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IBA |
21873635 |
| GO:0006879 |
Process |
Cellular iron ion homeostasis |
ISS |
|
| GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
IBA |
21873635 |
| GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
IDA |
9389648, 9732876 |
| GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
IMP |
25514493 |
| GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
ISS |
|
| GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
TAS |
|
| GO:0007183 |
Process |
SMAD protein complex assembly |
IDA |
10823886 |
| GO:0007283 |
Process |
Spermatogenesis |
IEA |
|
| GO:0007338 |
Process |
Single fertilization |
IEA |
|
| GO:0007411 |
Process |
Axon guidance |
IEA |
|
| GO:0008283 |
Process |
Cell population proliferation |
IEA |
|
| GO:0008285 |
Process |
Negative regulation of cell population proliferation |
IEA |
|
| GO:0009653 |
Process |
Anatomical structure morphogenesis |
IBA |
21873635 |
| GO:0010614 |
Process |
Negative regulation of cardiac muscle hypertrophy |
ISS |
|
| GO:0010718 |
Process |
Positive regulation of epithelial to mesenchymal transition |
ISS |
|
| GO:0010862 |
Process |
Positive regulation of pathway-restricted SMAD protein phosphorylation |
ISS |
|
| GO:0014033 |
Process |
Neural crest cell differentiation |
IEA |
|
| GO:0016579 |
Process |
Protein deubiquitination |
TAS |
|
| GO:0017015 |
Process |
Regulation of transforming growth factor beta receptor signaling pathway |
IMP |
8774881 |
| GO:0030154 |
Process |
Cell differentiation |
IBA |
21873635 |
| GO:0030308 |
Process |
Negative regulation of cell growth |
IDA |
8774881 |
| GO:0030509 |
Process |
BMP signaling pathway |
IBA |
21873635 |
| GO:0030509 |
Process |
BMP signaling pathway |
IDA |
9389648 |
| GO:0030509 |
Process |
BMP signaling pathway |
ISS |
|
| GO:0030509 |
Process |
BMP signaling pathway |
TAS |
|
| GO:0030511 |
Process |
Positive regulation of transforming growth factor beta receptor signaling pathway |
IDA |
19328798 |
| GO:0030513 |
Process |
Positive regulation of BMP signaling pathway |
IMP |
19366699 |
| GO:0032444 |
Component |
Activin responsive factor complex |
IDA |
9389648 |
| GO:0032525 |
Process |
Somite rostral/caudal axis specification |
IEA |
|
| GO:0032909 |
Process |
Regulation of transforming growth factor beta2 production |
IMP |
12411310 |
| GO:0033686 |
Process |
Positive regulation of luteinizing hormone secretion |
IEA |
|
| GO:0035019 |
Process |
Somatic stem cell population maintenance |
TAS |
|
| GO:0035556 |
Process |
Intracellular signal transduction |
IMP |
22316667 |
| GO:0036302 |
Process |
Atrioventricular canal development |
ISS |
|
| GO:0042118 |
Process |
Endothelial cell activation |
IEA |
|
| GO:0042733 |
Process |
Embryonic digit morphogenesis |
IEA |
|
| GO:0042802 |
Function |
Identical protein binding |
IPI |
9111321, 10647180, 21988832, 25609649 |
| GO:0042803 |
Function |
Protein homodimerization activity |
IPI |
8774881 |
| GO:0043199 |
Function |
Sulfate binding |
IMP |
10647180 |
| GO:0043565 |
Function |
Sequence-specific DNA binding |
IDA |
10823886 |
| GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
IDA |
8774881 |
| GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IDA |
8774881, 9311995, 9389648, 9707553, 9732876 |
| GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IDA |
9389648, 18832382 |
| GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
ISS |
|
| GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
TAS |
|
| GO:0046872 |
Function |
Metal ion binding |
IEA |
|
| GO:0046881 |
Process |
Positive regulation of follicle-stimulating hormone secretion |
IEA |
|
| GO:0048382 |
Process |
Mesendoderm development |
IEA |
|
| GO:0048589 |
Process |
Developmental growth |
IEA |
|
| GO:0048663 |
Process |
Neuron fate commitment |
IEA |
|
| GO:0048733 |
Process |
Sebaceous gland development |
IEA |
|
| GO:0048859 |
Process |
Formation of anatomical boundary |
IEA |
|
| GO:0051098 |
Process |
Regulation of binding |
IEA |
|
| GO:0051571 |
Process |
Positive regulation of histone H3-K4 methylation |
ISS |
|
| GO:0051797 |
Process |
Regulation of hair follicle development |
IEA |
|
| GO:0060065 |
Process |
Uterus development |
IEA |
|
| GO:0060391 |
Process |
Positive regulation of SMAD protein signal transduction |
ISS |
|
| GO:0060395 |
Process |
SMAD protein signal transduction |
IBA |
21873635 |
| GO:0060395 |
Process |
SMAD protein signal transduction |
IDA |
9707553, 9732876 |
| GO:0060412 |
Process |
Ventricular septum morphogenesis |
ISS |
|
| GO:0060548 |
Process |
Negative regulation of cell death |
IEA |
|
| GO:0060956 |
Process |
Endocardial cell differentiation |
ISS |
|
| GO:0061040 |
Process |
Female gonad morphogenesis |
IEA |
|
| GO:0062009 |
Process |
Secondary palate development |
ISS |
|
| GO:0070102 |
Process |
Interleukin-6-mediated signaling pathway |
ISS |
|
| GO:0070373 |
Process |
Negative regulation of ERK1 and ERK2 cascade |
ISS |
|
| GO:0070411 |
Function |
I-SMAD binding |
IBA |
21873635 |
| GO:0070411 |
Function |
I-SMAD binding |
IPI |
9256479 |
| GO:0070412 |
Function |
R-SMAD binding |
IPI |
8774881, 9111321, 9311995, 9732876 |
| GO:0071141 |
Component |
SMAD protein complex |
IDA |
18832382 |
| GO:0071141 |
Component |
SMAD protein complex |
IMP |
10647180 |
| GO:0071144 |
Component |
Heteromeric SMAD protein complex |
IBA |
21873635 |
| GO:0071559 |
Process |
Response to transforming growth factor beta |
IDA |
9707553 |
| GO:0071773 |
Process |
Cellular response to BMP stimulus |
NAS |
14687659 |
| GO:0072133 |
Process |
Metanephric mesenchyme morphogenesis |
IEA |
|
| GO:0072134 |
Process |
Nephrogenic mesenchyme morphogenesis |
IEA |
|
| GO:0072520 |
Process |
Seminiferous tubule development |
IEA |
|
| GO:0140537 |
Function |
Transcription regulator activator activity |
IEA |
|
| GO:1901522 |
Process |
Positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus |
TAS |
14687659 |
| GO:1902895 |
Process |
Positive regulation of pri-miRNA transcription by RNA polymerase II |
IEA |
|
| GO:1905305 |
Process |
Negative regulation of cardiac myofibril assembly |
ISS |
|
| GO:2000617 |
Process |
Positive regulation of histone H3-K9 acetylation |
ISS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| Protein
|
| UniProt ID |
Q13485 |
| Protein name |
Mothers against decapentaplegic homolog 4 (MAD homolog 4) (Mothers against DPP homolog 4) (Deletion target in pancreatic carcinoma 4) (SMAD family member 4) (SMAD 4) (Smad4) (hSMAD4) |
| Protein function |
In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling (PubMed:25514493). Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD4/JUN/FOS complex which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. May act as a tumor suppressor. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. |
| PDB |
1DD1
,
1G88
,
1MR1
,
1U7F
,
1U7V
,
1YGS
,
5C4V
,
5MEY
,
5MEZ
,
5MF0
,
5UWU
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF03165 |
MH1 |
36 → 137 |
MH1 domain |
Domain |
| PF03166 |
MH2 |
321 → 530 |
MH2 domain |
Family |
|
Sequence |
|
| Sequence length |
552 |
| Interactions |
View interactions |
|
|
