Details for: BABAM2

Gene ID: 9577

Symbol: BABAM2

Ensembl ID: ENSG00000158019

Description: BRISC and BRCA1 A complex member 2

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 7.35
    Marker Score: 97,811
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.42
    Marker Score: 8,573
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.34
    Marker Score: 2,576
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 3.14
    Marker Score: 11,150
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.99
    Marker Score: 4,020
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 2.96
    Marker Score: 1,439
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.87
    Marker Score: 3,478
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.77
    Marker Score: 61,898
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.7
    Marker Score: 1,421
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.69
    Marker Score: 11,257
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.6
    Marker Score: 12,022
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.54
    Marker Score: 54,307
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.51
    Marker Score: 5,505
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.5
    Marker Score: 94,840
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.48
    Marker Score: 37,033
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.47
    Marker Score: 2,731
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.46
    Marker Score: 1,434
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.4
    Marker Score: 47,732
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.4
    Marker Score: 700
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.36
    Marker Score: 4,543
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.3
    Marker Score: 17,607
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.28
    Marker Score: 84,127
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.24
    Marker Score: 9,287
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.21
    Marker Score: 697
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.19
    Marker Score: 6,249
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.19
    Marker Score: 694
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.14
    Marker Score: 2,669
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.1
    Marker Score: 1,254
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.1
    Marker Score: 1,456
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.1
    Marker Score: 878
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.08
    Marker Score: 8,054
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.08
    Marker Score: 1,216
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.07
    Marker Score: 1,834
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 2.02
    Marker Score: 731
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 2.01
    Marker Score: 729
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.01
    Marker Score: 7,123
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2
    Marker Score: 3,366
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.99
    Marker Score: 122,119
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.99
    Marker Score: 1,772
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.95
    Marker Score: 18,304
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.94
    Marker Score: 2,237
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.92
    Marker Score: 953
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.88
    Marker Score: 1,048
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.86
    Marker Score: 19,252
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.86
    Marker Score: 17,671
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.85
    Marker Score: 1,997
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.84
    Marker Score: 1,758
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.82
    Marker Score: 1,676
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 1.8
    Marker Score: 1,092
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.78
    Marker Score: 15,329
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.76
    Marker Score: 2,174
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.74
    Marker Score: 1,145
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.74
    Marker Score: 451
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.73
    Marker Score: 1,962
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.69
    Marker Score: 487
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.68
    Marker Score: 1,105
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.68
    Marker Score: 908
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.67
    Marker Score: 426
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.66
    Marker Score: 3,969
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.65
    Marker Score: 452
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.62
    Marker Score: 598
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.59
    Marker Score: 503
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.59
    Marker Score: 887
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.57
    Marker Score: 2,429
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.56
    Marker Score: 489
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.56
    Marker Score: 494
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.52
    Marker Score: 1,546
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166,870
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.44
    Marker Score: 3,396
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.43
    Marker Score: 462
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.42
    Marker Score: 5,796
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.37
    Marker Score: 467
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.35
    Marker Score: 1,908
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.34
    Marker Score: 21,013
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.33
    Marker Score: 798
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.28
    Marker Score: 2,604
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 1.28
    Marker Score: 659
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.27
    Marker Score: 2,315
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.26
    Marker Score: 254
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.24
    Marker Score: 1,072
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.22
    Marker Score: 5,246
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.19
    Marker Score: 841
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.18
    Marker Score: 615
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.15
    Marker Score: 7,367
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.15
    Marker Score: 574
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.15
    Marker Score: 399
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.11
    Marker Score: 419
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.09
    Marker Score: 4,266
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.08
    Marker Score: 396
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.07
    Marker Score: 1,139
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 1.06
    Marker Score: 320
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.05
    Marker Score: 2,220
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.05
    Marker Score: 1,541
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.04
    Marker Score: 2,617
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.04
    Marker Score: 6,222
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.02
    Marker Score: 414
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.02
    Marker Score: 268
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1
    Marker Score: 570
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,639
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,864

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subunit of the BRISC complex**: BABAM2 is a component of the BRISC complex, which is a critical regulatory unit involved in DNA damage response and repair. 2. **Deubiquitination activity**: BABAM2 possesses deubiquitination activity, which is essential for the regulation of protein stability and function. 3. **Interaction with BRCA1**: BABAM2 interacts with the BRCA1 protein, a well-established tumor suppressor, to regulate its activity and function. 4. **Significant expression in multiple cell types**: BABAM2 is expressed in various cell types, including cardiac muscle cells, skeletal muscle fibers, and renal principal cells, indicating its importance in tissue homeostasis. **Pathways and Functions:** 1. **DNA damage response**: BABAM2 is involved in the regulation of DNA damage response, including the recruitment of repair proteins and the activation of cell cycle checkpoints. 2. **Cell cycle checkpoints**: BABAM2 regulates cell cycle checkpoints, ensuring that cells with damaged DNA do not enter the S phase of the cell cycle. 3. **Apoptosis regulation**: BABAM2 negatively regulates apoptosis, preventing excessive cell death in response to DNA damage. 4. **Homologous recombination repair**: BABAM2 is involved in the regulation of homologous recombination repair, a critical pathway for repairing double-strand breaks in DNA. 5. **Nonhomologous end-joining**: BABAM2 also regulates nonhomologous end-joining, a pathway for repairing double-strand breaks in DNA. **Clinical Significance:** 1. **Cancer susceptibility**: Mutations in the BRCA1 gene, which interacts with BABAM2, are associated with an increased risk of breast and ovarian cancer. 2. **Genomic instability**: Alterations in BABAM2 expression or function may contribute to genomic instability, leading to cancer or other diseases. 3. **Tissue-specific functions**: The expression of BABAM2 in multiple cell types highlights its importance in maintaining tissue homeostasis and preventing disease. 4. **Therapeutic targeting**: BABAM2 may serve as a potential target for therapeutic interventions aimed at preventing or treating diseases associated with genomic instability. In conclusion, BABAM2 is a critical component of the BRISC complex, playing a vital role in maintaining genome stability and preventing disease. Further research is necessary to fully elucidate the functions of BABAM2 and its potential therapeutic applications.

Genular Protein ID: 812566234

Symbol: BABA2_HUMAN

Name: BRCA1-A complex subunit BRE

UniProtKB Accession Codes:

Q9NXR7 A8K4X1 D6W562 D6W563 Q13880 Q4ZFX8 Q53SD0 Q969X9 Q96P06

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 22 EMDB 2 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 27 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 5 RefSeq 8 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7826398

Title: Identification of a brain- and reproductive-organs-specific gene responsive to DNA damage and retinoic acid.

PubMed ID: 7826398

DOI: 10.1006/bbrc.1995.1108

PubMed ID: 11676476

Title: Expression of human BRE in multiple isoforms.

PubMed ID: 11676476

DOI: 10.1006/bbrc.2001.5801

PubMed ID: 14636569

Title: Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair.

PubMed ID: 14636569

DOI: 10.1016/s1097-2765(03)00424-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15465831

Title: A death receptor-associated anti-apoptotic protein, BRE, inhibits mitochondrial apoptotic pathway.

PubMed ID: 15465831

DOI: 10.1074/jbc.m408678200

PubMed ID: 17525341

Title: RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites.

PubMed ID: 17525341

DOI: 10.1126/science.1139516

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19214193

Title: K63-specific deubiquitination by two JAMM/MPN+ complexes: BRISC-associated Brcc36 and proteasomal Poh1.

PubMed ID: 19214193

DOI: 10.1038/emboj.2009.27

PubMed ID: 19261746

Title: MERIT40 controls BRCA1-Rap80 complex integrity and recruitment to DNA double-strand breaks.

PubMed ID: 19261746

DOI: 10.1101/gad.1739609

PubMed ID: 19261749

Title: NBA1, a new player in the Brca1 A complex, is required for DNA damage resistance and checkpoint control.

PubMed ID: 19261749

DOI: 10.1101/gad.1770309

PubMed ID: 19261748

Title: MERIT40 facilitates BRCA1 localization and DNA damage repair.

PubMed ID: 19261748

DOI: 10.1101/gad.1770609

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21282113

Title: NBA1/MERIT40 and BRE interaction is required for the integrity of two distinct deubiquitinating enzyme BRCC36-containing complexes.

PubMed ID: 21282113

DOI: 10.1074/jbc.m110.200857

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24075985

Title: A BRISC-SHMT complex deubiquitinates IFNAR1 and regulates interferon responses.

PubMed ID: 24075985

DOI: 10.1016/j.celrep.2013.08.025

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25283148

Title: ABRO1 suppresses tumourigenesis and regulates the DNA damage response by stabilizing p53.

PubMed ID: 25283148

DOI: 10.1038/ncomms6059

PubMed ID: 26195665

Title: The deubiquitinating enzyme complex BRISC is required for proper mitotic spindle assembly in mammalian cells.

PubMed ID: 26195665

DOI: 10.1083/jcb.201503039

Sequence Information:

  • Length: 383
  • Mass: 43552
  • Checksum: D830226E2B8F2C4B
  • Sequence:
    • MSPEVALNRI SPMLSPFISS VVRNGKVGLD ATNCLRITDL KSGCTSLTPG PNCDRFKLHI 
PYAGETLKWD IIFNAQYPEL PPDFIFGEDA EFLPDPSALQ NLASWNPSNP ECLLLVVKEL 
VQQYHQFQCS RLRESSRLMF EYQTLLEEPQ YGENMEIYAG KKNNWTGEFS ARFLLKLPVD 
FSNIPTYLLK DVNEDPGEDV ALLSVSFEDT EATQVYPKLY LSPRIEHALG GSSALHIPAF 
PGGGCLIDYV PQVCHLLTNK VQYVIQGYHK RREYIAAFLS HFGTGVVEYD AEGFTKLTLL 
LMWKDFCFLV HIDLPLFFPR DQPTLTFQSV YHFTNSGQLY SQAQKNYPYS PRWDGNEMAK 
RAKAYFKTFV PQFQEAAFAN GKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.