Details for: FAM72B

Gene ID: 653820

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: FAM72B

Ensembl ID: ENSG00000188610

Description: family with sequence similarity 72 member B

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • large pre-B-II cell CL0000957
    CSI 2.63
    rCSI 7.51%
    PRS 99.85

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

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  • Node Color (Target Cell CSI, relative to current network):
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  • Node Size: Proportional to Target Cell CSI magnitude
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  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [FAM72B](/details-gene/653820), or Family with Sequence Similarity 72 Member B, is a protein-coding gene located on human chromosome 1 at position 1p11.2 [Link](https://doi.org/10.1038/nature04727). Functional annotations suggest the encoded protein is involved in *protein binding* ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)) and is primarily localized to the *cytosol* ([GO:0005829](https://www.ebi.ac.uk/QuickGO/term/GO:0005829)). Expression data highlights its most significant role in the B-cell lineage, with a notable peak in the [large pre-B-II cell](/details-cell/CL0000957) population, suggesting a specialized function during B-lymphocyte development. The gene was identified as part of large-scale genome sequencing and cDNA collection projects [Link](https://doi.org/10.1101/gr.2596504). ## Cellular Roles and Expression Landscape The expression profile of [FAM72B](/details-gene/653820) points toward a specialized function within the hematopoietic system, particularly during B-cell lymphopoiesis. - **B-Cell Development:** The **Overall** expression data identifies [FAM72B](/details-gene/653820) as a significant marker for the [large pre-B-II cell](/details-cell/CL0000957) (CSI: 2.63). This stage of B-cell development is characterized by the expression of the pre-B cell receptor (pre-BCR) and extensive cellular proliferation. The high significance of [FAM72B](/details-gene/653820) in this specific cell type suggests it may play a critical role in processes associated with the pre-BCR checkpoint, such as signaling, cell cycle progression, or survival. The available data is limited to this single cell type, which precludes a broader analysis of its expression landscape. Further investigation is required to determine its expression levels in other immune and non-immune cell populations to fully define its cellular specificity. ## Pathways and Molecular Function The molecular function of [FAM72B](/details-gene/653820) is currently understood through its Gene Ontology annotations. - **Molecular Function:** It is annotated with *protein binding* ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)), indicating it likely functions as part of a larger protein complex or acts as an adaptor or scaffold protein. - **Cellular Component:** The protein is primarily found in the *cytosol* ([GO:0005829](https://www.ebi.ac.uk/QuickGO/term/GO:0005829)) and potentially within other *intracellular membrane-bounded organelles* ([GO:0043231](https://www.ebi.ac.uk/QuickGO/term/GO:0043231)). Consistent with its peak expression in [large pre-B-II cells](/details-cell/CL0000957), [FAM72B](/details-gene/653820) may interact with cytoplasmic signaling components downstream of the pre-BCR, which is essential for mediating the survival and proliferative signals at this developmental checkpoint. ## Research Directions The specific expression of [FAM72B](/details-gene/653820) in a critical stage of B-cell development suggests several avenues for future research, particularly concerning its role in both normal and malignant hematopoiesis. **Proposed Hypotheses:** 1. [FAM72B](/details-gene/653820) is essential for the proliferative expansion of [large pre-B-II cells](/details-cell/CL0000957) following successful pre-BCR signaling, possibly by binding to and stabilizing key cell cycle regulatory proteins. 2. Dysregulation or overexpression of [FAM72B](/details-gene/653820) contributes to the pathogenesis of pre-B cell acute lymphoblastic leukemia (pre-B ALL) by promoting uncontrolled proliferation or blocking further differentiation. **Experimental Approach:** To test the hypothesis that [FAM72B](/details-gene/653820) is critical for pre-B-II cell proliferation, one could employ a CRISPR-Cas9-mediated knockout of the gene in a human pre-B cell line (e.g., NALM-6) or in primary hematopoietic progenitor cells. The impact on cell cycle progression could be assessed using flow cytometry for DNA content (e.g., propidium iodide staining), and proliferation rates could be measured via BrdU incorporation assays. Furthermore, co-immunoprecipitation followed by mass spectrometry in these cells could identify its binding partners, revealing the specific pathways it regulates. **Therapeutic Potential:** Given its highly specific expression peak in a proliferative precursor B-cell population, [FAM72B](/details-gene/653820) could represent a potential therapeutic target in B-cell malignancies that originate from this developmental stage, such as pre-B ALL. If its function is confirmed to be pro-proliferative, inhibition of its activity or protein-protein interactions would be the logical therapeutic strategy. However, its intracellular localization suggests it would not be a suitable target for antibody-based therapies. Instead, it might be a candidate for small molecule inhibitors or targeted protein degradation technologies (e.g., PROTACs) if a druggable binding pocket can be identified.

Genular Protein ID: 1441641851

Symbol: FA72B_HUMAN

Name: Protein FAM72B

UniProtKB Accession Codes:

Q86X60 B2RPQ5 Q5QP15

Database IDs:

AGR 1 AlphaFoldDB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 2 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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

Sequence Information:

  • Length: 149
  • Mass: 16617
  • Checksum: 8755AD90EC029EAE
  • Sequence:
    • MSTNICSFKD RCVSILCCKF CKQVLSSRGM KAVLLADTEI DLFSTDIPPT NAVDFTGRCY 
FTKICKCKLK DIACLKCGNI VGYHVIVPCS SCLPSCNNGH FWMFHSQAVY DINRLDSTGV 
NILLWGNLPE IEESTDEDVL NISAEECIR