BABAM2
BRISC and BRCA1-A complex member 2
Also known as: BABA2_HUMAN, BRCC4, BRCC45, BRE
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NXR7
- Gene
- BABAM2
- Ensembl
- ENSG00000158019
- Chromosome
- 2
- Canonical length
- 383 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
Canonical amino-acid sequenceUniProt
383 residues, UniProt reviewed canonical sequence.
>Q9NXR7|BABAM2
1 MSPEVALNRI SPMLSPFISS VVRNGKVGLD ATNCLRITDL KSGCTSLTPG PNCDRFKLHI
61 PYAGETLKWD IIFNAQYPEL PPDFIFGEDA EFLPDPSALQ NLASWNPSNP ECLLLVVKEL
121 VQQYHQFQCS RLRESSRLMF EYQTLLEEPQ YGENMEIYAG KKNNWTGEFS ARFLLKLPVD
181 FSNIPTYLLK DVNEDPGEDV ALLSVSFEDT EATQVYPKLY LSPRIEHALG GSSALHIPAF
241 PGGGCLIDYV PQVCHLLTNK VQYVIQGYHK RREYIAAFLS HFGTGVVEYD AEGFTKLTLL
301 LMWKDFCFLV HIDLPLFFPR DQPTLTFQSV YHFTNSGQLY SQAQKNYPYS PRWDGNEMAK
361 RAKAYFKTFV PQFQEAAFAN GKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BABAM2 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 357 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 357 nTPM
- skeletal muscle: 70 nTPM
- tongue: 51 nTPM
- heart muscle: 51 nTPM
- kidney: 50 nTPM
- blood vessel: 44 nTPM
Single-cell type
- adrenal cortex cells: 2,215 nCPM
- renal connecting tubule cells: 714 nCPM
- neutrophils: 578 nCPM
- distal convoluted tubule cells: 505 nCPM
- myonuclei: 441 nCPM
- thymic myoid cells: 434 nCPM
Immune cell
- basophil: 107 nTPM
- myeloid DC: 86 nTPM
- classical monocyte: 66 nTPM
- MAIT T-cell: 65 nTPM
- T-reg: 62 nTPM
- NK-cell: 59 nTPM
Brain region
- pons: 61 nTPM
- hypothalamus: 55 nTPM
- cerebral cortex: 51 nTPM
- choroid plexus: 47 nTPM
- basal ganglia: 47 nTPM
- hippocampal formation: 46 nTPM
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)
- 0.47
- gnomAD pLI
- 0.17
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cell division
- cellular response to ionizing radiation
- chromatin organization
- DNA damage response
- double-strand break repair
- mitotic G2 DNA damage checkpoint signaling
- mitotic G2/M transition checkpoint
- negative regulation of apoptotic process
- positive regulation of DNA repair
- protein K63-linked deubiquitination
- regulation of DNA damage checkpoint
- regulation of DNA repair
- response to ionizing radiation
- signal transduction
Molecular functions
- peroxisome targeting sequence binding
- polyubiquitin modification-dependent protein binding
- tumor necrosis factor receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- BRCA1-A complex subunit BRE
- Brain and reproductive organ-expressed protein (BRE)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BABAM2 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 BABAM2 as an antibody target. Whether an autoantibody or antibody against BABAM2 could matter depends on whether native BABAM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BABAM2 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 BABAM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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