Gene Gene information from NCBI Gene database.
Entrez ID 257397
Gene name TGF-beta activated kinase 1 (MAP3K7) binding protein 3
Gene symbol TAB3
Synonyms (NCBI Gene)
MAP3K7IP3NAP1
Chromosome X
Chromosome location Xp21.2
Summary The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT007039 hsa-miR-23b-3p Luciferase reporter assay 22660635
MIRT007039 hsa-miR-23b-3p Luciferase reporter assay 22660635
MIRT007170 hsa-miR-195-5p Luciferase reporter assay 23487264
MIRT007170 hsa-miR-195-5p Luciferase reporter assay 23487264
MIRT053429 hsa-miR-512-5p Microarray 23807165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17158449, 17449468, 21512573, 21903422, 22081109, 22158122, 25416956, 32296183, 32707033, 35271311, 36179048
GO:0005783 Component Endoplasmic reticulum IDA 15327770
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300480 30681 ENSG00000157625
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5C8
Protein name TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 3) (NF-kappa-B-activating protein 1) (TAK1-binding protein 3) (TAB-3) (TGF-beta-activated kinase 1-binding protein 3)
Protein function Adapter required to activate the JNK and NF-kappa-B signaling pathways through the specific recognition of 'Lys-63'-linked polyubiquitin chains by its RanBP2-type zinc finger (NZF) (PubMed:14633987, PubMed:14766965, PubMed:15327770, PubMed:22158
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02845 CUE 9 50 CUE domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Constitutively overexpressed in certain tumor tissues. {ECO:0000269|PubMed:14670075}.; TISSUE SPECIFICITY: [Isoform 1]: Major transcript. {ECO:0000269|PubMed:14766965}.; TISSUE SPECIFICITY: [Isoform 2]: Minor transcri
Sequence
MAQSSPQLDIQVLHDLRQRFPEIPEGVVSQCMLQNNNNLEACCRALSQESSKYLYMEYHS
PDDNRMNRNRLLHINLGIHSPSSYHPGDGAQLNGGRTLVHSSSDGHIDPQHAAGKQLICL
VQEPHSAPAVVAATPNYNPFFMNEQNRSAATPPSQPPQQPSSMQTGMNPSAMQGPSPPPP
PPSYMHIPRYSTNPITVTVSQNLPSGQTVPRALQILPQIPSNLYGSPGSIYIRQTSQSSS
GRQTPQSTPWQSSPQGPVPHYSQRPLPVYPHQQNYQPSQYSPKQQQIPQSAYHSPPPSQC
PSPFSSPQHQVQPSQLGHIFMPPSPSTTPPHPYQQGPPSYQKQGSHSVAYLPYTASSLSK
GSMKKIEITVEPSQRPGTAINRSPSPISNQPSPRNQHSLYTATTPPSSSPSRGISSQPKP
PFSVNPVYITYTQPTGPSCTPSPSPRVIPNPTTVFKITVGRATTENLLNLVDQEERSAAP
EPIQPISVIPGSGGEKGSHKYQRSSSSGSDDYAYTQALLLHQRARMERLAKQLKLEKEEL
ERLKSEVNGMEHDLMQRRLRRVSCTTAIPTPEEMTRLRSMNRQLQINVDCTLKEVDLLQS
RGNFDPKAMNNFYDNIEPGPVVPPKPSKKDSSDPCTIERKARRISVTSKVQADIHDTQAA
AADEHRTGSTQSPRTQPRDEDYEGAPWNCDSCTFLNHPALNRCEQCEMPRYT
Sequence length 712
Interactions View interactions
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
EYE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EYE INFECTIOUS DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
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
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 30893695
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37203408 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24565101, 26875893 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26476534
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27651027
★☆☆☆☆
Found in Text Mining only
Central Diabetes Insipidus Diabetes Insipidus BEFREE 18216211, 19081526, 19755166, 21487764, 24213847, 25782900, 28125650, 28501926, 28645479, 29174729, 29846557, 30052178, 30170546
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29290971
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common Variable Immunodeficiency GWASDB_DG 21497890
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart Diseases BEFREE 28462515
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 30365083
★☆☆☆☆
Found in Text Mining only