Seroatlas · Human Serome Atlas

TAB2

TGF-beta-activated kinase 1 and MAP3K7-binding protein 2

Also known as: KIAA0733, MAP3K7IP2, TAB2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NYJ8
Gene: TAB2
Ensembl: ENSG00000055208
Chromosome: 6
Canonical length: 693 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

693 residues, UniProt reviewed canonical sequence.

>Q9NYJ8|TAB2
     1  MAQGSHQIDF QVLHDLRQKF PEVPEVVVSR CMLQNNNNLD ACCAVLSQES TRYLYGEGDL
    61  NFSDDSGISG LRNHMTSLNL DLQSQNIYHH GREGSRMNGS RTLTHSISDG QLQGGQSNSE
   121  LFQQEPQTAP AQVPQGFNVF GMSSSSGASN SAPHLGFHLG SKGTSSLSQQ TPRFNPIMVT
   181  LAPNIQTGRN TPTSLHIHGV PPPVLNSPQG NSIYIRPYIT TPGGTTRQTQ QHSGWVSQFN
   241  PMNPQQVYQP SQPGPWTTCP ASNPLSHTSS QQPNQQGHQT SHVYMPISSP TTSQPPTIHS
   301  SGSSQSSAHS QYNIQNISTG PRKNQIEIKL EPPQRNNSSK LRSSGPRTSS TSSSVNSQTL
   361  NRNQPTVYIA ASPPNTDELM SRSQPKVYIS ANAATGDEQV MRNQPTLFIS TNSGASAASR
   421  NMSGQVSMGP AFIHHHPPKS RAIGNNSATS PRVVVTQPNT KYTFKITVSP NKPPAVSPGV
   481  VSPTFELTNL LNHPDHYVET ENIQHLTDPT LAHVDRISET RKLSMGSDDA AYTQALLVHQ
   541  KARMERLQRE LEIQKKKLDK LKSEVNEMEN NLTRRRLKRS NSISQIPSLE EMQQLRSCNR
   601  QLQIDIDCLT KEIDLFQARG PHFNPSAIHN FYDNIGFVGP VPPKPKDQRS IIKTPKTQDT
   661  EDDEGAQWNC TACTFLNHPA LIRCEQCEMP RHF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TAB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.64
Highest tissue expression: 73 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 73 nTPM
tongue: 70 nTPM
liver: 57 nTPM
salivary gland: 53 nTPM
thymus: 48 nTPM
bone marrow: 42 nTPM

Single-cell type

neutrophils: 798 nCPM
microglia: 617 nCPM
platelets: 336 nCPM
hematopoietic stem cells: 319 nCPM
monocytes: 234 nCPM
astrocytes: 234 nCPM

Immune cell

NK-cell: 4.9 nTPM
neutrophil: 4.4 nTPM
T-reg: 4.3 nTPM
memory CD4 T-cell: 3.8 nTPM
memory CD8 T-cell: 2.5 nTPM
naive CD4 T-cell: 2.2 nTPM

Brain region

medulla oblongata: 167 nTPM
hypothalamus: 158 nTPM
spinal cord: 143 nTPM
midbrain: 133 nTPM
white matter: 122 nTPM
thalamus: 93 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TAB2.

Disease | AllUniProt

Conditions TAB2 is implicated in, by any mechanism.

Congenital heart defects, multiple types, 2 (CHTD2) MIM:614980

Disease | GeneticClinVar

80 pathogenic / likely-pathogenic of 416 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital heart defects, multiple types, 2
TAB2-related disorder
Inborn genetic diseases
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
Rectal prolapse

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.1
gnomAD pLI: 1
gnomAD missense Z: 1.61
DepMap mean gene effect: 0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TAB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TAB2 as an antibody target. Whether an autoantibody or antibody against TAB2 could matter depends on whether native TAB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TAB2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TAB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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