MAP3K7 (mitogen-activated protein kinase kinase kinase 7)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6885 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Mitogen-activated protein kinase kinase kinase 7 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MAP3K7 |
SynonymsGene synonyms aliases
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CSCF, FMD2, MEKK7, TAK1, TGF1a |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q15 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcripti |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs886039230 |
G>A,C,T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs886039231 |
C>G |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
rs886039232 |
A>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
rs886039233 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
rs886039234 |
TCTTCC>- |
Pathogenic |
5 prime UTR variant, inframe deletion, coding sequence variant |
rs886039235 |
C>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
rs886039236 |
AAC>- |
Pathogenic |
5 prime UTR variant, inframe deletion, coding sequence variant |
rs886039237 |
A>C,T |
Pathogenic |
Coding sequence variant, missense variant |
rs1057517758 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1064795771 |
C>T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
rs1180249151 |
C>A,T |
Likely-pathogenic |
Splice acceptor variant |
rs1554184177 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1582233787 |
AAC>- |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, inframe deletion |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000186 |
Process |
Activation of MAPKK activity |
IDA |
8663074, 9079627 |
GO:0000187 |
Process |
Activation of MAPK activity |
IDA |
9079627 |
GO:0000187 |
Process |
Activation of MAPK activity |
TAS |
|
GO:0000287 |
Function |
Magnesium ion binding |
IEA |
|
GO:0002223 |
Process |
Stimulatory C-type lectin receptor signaling pathway |
TAS |
|
GO:0002726 |
Process |
Positive regulation of T cell cytokine production |
IMP |
15125833 |
GO:0002755 |
Process |
MyD88-dependent toll-like receptor signaling pathway |
TAS |
|
GO:0004672 |
Function |
Protein kinase activity |
IDA |
10094049 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
EXP |
10702308, 11460167, 20538596 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
TAS |
|
GO:0004709 |
Function |
MAP kinase kinase kinase activity |
EXP |
11460167 |
GO:0004709 |
Function |
MAP kinase kinase kinase activity |
IBA |
21873635 |
GO:0004709 |
Function |
MAP kinase kinase kinase activity |
IDA |
11460167 |
GO:0005515 |
Function |
Protein binding |
IPI |
10094049, 11460167, 12496252, 15075345, 15764709, 16840345, 16845370, 17079228, 17110930, 17158449, 17449468, 17709393, 18286207, 18591963, 18758450, 19820695, 21512573, 21903422, 22081109, 22158122, 22904686, 25241761, 26334375, 27426733 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005634 |
Component |
Nucleus |
HDA |
21630459 |
GO:0005671 |
Component |
Ada2/Gcn5/Ada3 transcription activator complex |
IDA |
18838386 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
|
GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
TAS |
9466656 |
GO:0007223 |
Process |
Wnt signaling pathway, calcium modulating pathway |
TAS |
|
GO:0007249 |
Process |
I-kappaB kinase/NF-kappaB signaling |
TAS |
|
GO:0007250 |
Process |
Activation of NF-kappaB-inducing kinase activity |
IMP |
10094049, 15125833 |
GO:0007252 |
Process |
I-kappaB phosphorylation |
IDA |
11460167 |
GO:0007254 |
Process |
JNK cascade |
IBA |
21873635 |
GO:0007254 |
Process |
JNK cascade |
IDA |
9079627 |
GO:0007254 |
Process |
JNK cascade |
TAS |
|
GO:0008385 |
Component |
IkappaB kinase complex |
IPI |
10094049 |
GO:0010008 |
Component |
Endosome membrane |
TAS |
|
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0016239 |
Process |
Positive regulation of macroautophagy |
ISS |
|
GO:0016579 |
Process |
Protein deubiquitination |
TAS |
|
GO:0030971 |
Function |
Receptor tyrosine kinase binding |
IPI |
18762249 |
GO:0032743 |
Process |
Positive regulation of interleukin-2 production |
IMP |
15125833 |
GO:0038095 |
Process |
Fc-epsilon receptor signaling pathway |
TAS |
|
GO:0042802 |
Function |
Identical protein binding |
IPI |
27426733 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IBA |
21873635 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IMP |
14982987 |
GO:0043276 |
Process |
Anoikis |
ISS |
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GO:0043507 |
Process |
Positive regulation of JUN kinase activity |
IDA |
11460167 |
GO:0043507 |
Process |
Positive regulation of JUN kinase activity |
IMP |
10094049 |
GO:0043966 |
Process |
Histone H3 acetylation |
IDA |
18838386 |
GO:0050852 |
Process |
T cell receptor signaling pathway |
NAS |
15125833 |
GO:0050852 |
Process |
T cell receptor signaling pathway |
TAS |
|
GO:0051092 |
Process |
Positive regulation of NF-kappaB transcription factor activity |
TAS |
|
GO:0051403 |
Process |
Stress-activated MAPK cascade |
IDA |
9079627 |
GO:0070423 |
Process |
Nucleotide-binding oligomerization domain containing signaling pathway |
TAS |
|
GO:0070498 |
Process |
Interleukin-1-mediated signaling pathway |
TAS |
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GO:0097110 |
Function |
Scaffold protein binding |
IDA |
23776175 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
O43318 |
Protein name |
Mitogen-activated protein kinase kinase kinase 7 (EC 2.7.11.25) (Transforming growth factor-beta-activated kinase 1) (TGF-beta-activated kinase 1) |
Protein function |
Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway (PubMed:10094049, PubMed:11460167, PubMed:12589052, PubMed:16845370, PubMed:16893890, PubMed:21512573, PubMed:8663074, PubMed:9079627). Pl |
PDB |
2EVA
,
2YIY
,
4GS6
,
4L3P
,
4L52
,
4L53
,
4O91
,
5E7R
,
5GJD
,
5GJF
,
5GJG
,
5J7S
,
5J8I
,
5J9L
,
5JGA
,
5JGB
,
5JGD
,
5JH6
,
5JK3
,
5V5N
,
7NTH
,
7NTI
,
8GW3
,
9FPD
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07714 |
PK_Tyr_Ser-Thr |
36 → 284 |
Protein tyrosine and serine/threonine kinase |
Domain |
|
Sequence |
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Sequence length |
606 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Bicuspid aortic valve |
Bicuspid aortic valve |
rs1569484234, rs1569484208 |
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Brachydactyly |
Brachydactyly |
rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142 |
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Cardiospondylocarpofacial syndrome |
Cardiospondylocarpofacial syndrome |
rs886039234, rs886039235, rs886039236, rs886039237, rs1582233787 |
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Cholestasis |
Cholestasis, Extrahepatic |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
28789951 |
Craniosynostosis |
Craniosynostosis |
rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350 |
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Frontometaphyseal dysplasia |
Frontometaphyseal dysplasia, FRONTOMETAPHYSEAL DYSPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA 2 |
rs28935471, rs137853312, rs886039230, rs886039231, rs886039232, rs886039233, rs1180249151 |
27426733, 27426733, 30914295, 25899317 |
Hearing loss |
Conductive hearing loss, Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
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Mitral valve prolapse |
Mitral Valve Prolapse Syndrome |
rs768737101 |
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Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
Patent ductus arteriosus |
Patent ductus arteriosus |
rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872 |
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Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
17199135 |
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Carpal synostosis |
Carpal synostosis |
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Clinodactyly |
Clinodactyly of fingers |
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Congenital camptodactyly |
Congenital Camptodactyly |
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Congenital clubfoot |
Congenital clubfoot |
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Dislocated radial head |
Congenital dislocation of radial head |
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Developmental dysplasia of the hip |
Congenital Dysplasia Of The Hip |
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Rib fusion |
Congenital fusion of ribs |
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Congenital sensorineural hearing loss |
Congenital sensorineural hearing loss |
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Dwarfism |
Dwarfism |
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Gastroesophageal reflux disease |
Gastroesophageal reflux disease |
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High palate |
Byzanthine arch palate |
|
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Hip contracture |
Hip Contracture |
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Hydronephrosis |
Hydronephrosis |
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Micrognathism |
Micrognathism |
|
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Otitis media |
Recurrent otitis media |
rs601338, rs1047781, rs1800028 |
|
Patent foramen ovale |
Foramen Ovale, Patent |
|
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Posteriorly rotated ear |
Posteriorly rotated ear |
|
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Prostatic neoplasms |
Prostatic Neoplasms |
|
17199135 |
Pulmonary stenosis |
Pulmonary Stenosis |
|
|
Strabismus |
Strabismus |
|
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Tarsal coalition |
Tarsal Coalition |
|
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Tracheal stenosis |
Tracheal Stenosis |
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