Details for: FAM124A

Gene ID: 220108

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: FAM124A

Ensembl ID: ENSG00000150510

Description: family with sequence similarity 124 member A

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • melanocyte CL0000148
    CSI 6.22
    rCSI 4.61%
    PRS 90.56
  • oligodendrocyte CL0000128
    CSI 6.1
    rCSI 18.04%
    PRS 85.71
  • interneuron CL0000099
    CSI 3.21
    rCSI 6.45%
    PRS 88.31
  • choroid plexus epithelial cell CL0000706
    CSI 2.95
    rCSI 4.84%
    PRS 87.54
  • cerebral cortex endothelial cell CL1001602
    CSI 2.71
    rCSI 4.68%
    PRS 89.01
  • ependymal cell CL0000065
    CSI 2.48
    rCSI 5.02%
    PRS 77.99
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.44
    rCSI 5.47%
    PRS 83.06
  • retinal bipolar neuron CL0000748
    CSI 2.2
    rCSI 4.12%
    PRS 86.27
  • retinal rod cell CL0000604
    CSI 1.89
    rCSI 3.33%
    PRS 89.67
  • retinal cone cell CL0000573
    CSI 1.75
    rCSI 2.82%
    PRS 86.49
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.66
    rCSI 2.94%
    PRS 82.15
  • glutamatergic neuron CL0000679
    CSI 1.54
    rCSI 3.17%
    PRS 83.2
  • parietal epithelial cell CL1000452
    CSI 1.44
    rCSI 3.85%
    PRS 89.25
  • S cone cell CL0003050
    CSI 1.36
    rCSI 5.99%
    PRS 89.87
  • cardiac muscle cell CL0000746
    CSI 1.26
    rCSI 1.8%
    PRS 86.25
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.92
    rCSI 3.32%
    PRS 81.02
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.91
    rCSI 3.44%
    PRS 82.93
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 0.77
    rCSI 1.87%
    PRS 80.66
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.68
    rCSI 16.48%
    PRS 80.6
  • central nervous system neuron CL2000029
    CSI 0.44
    rCSI 3.22%
    PRS 86.71
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.44
    rCSI 2.57%
    PRS 83.18

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

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • 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 [FAM124A](/details-gene/220108), or Family with Sequence Similarity 124 Member A, is a protein-coding gene located on chromosome 13q14.3. While its function is not well-characterized, annotations suggest a role in protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). **Overall**, expression analysis reveals that [FAM124A](/details-gene/220108) is a highly significant marker for distinct cell populations, most notably [melanocytes](/details-cell/CL0000148) and [oligodendrocytes](/details-cell/CL0000128). Its expression profile is also prominent across various cell types of the central nervous system, including multiple neuronal subtypes and specialized epithelial cells like those of the choroid plexus, suggesting a specialized role in neural and glial cell biology. Initial characterization of this gene was part of large-scale cDNA sequencing projects ([Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1101/gr.2596504)). ## Cellular Roles and Expression Landscape The expression pattern of [FAM124A](/details-gene/220108) points towards key functions within the nervous system and pigment-producing cells. **Overall**, the gene demonstrates the highest significance in [melanocytes](/details-cell/CL0000148) (CSI: 6.22) and myelin-producing [oligodendrocytes](/details-cell/CL0000128) (CSI: 6.10), indicating it may be integral to the core identity and function of these two distinct cell lineages. Its significance extends broadly across the central nervous system, with notable expression in [interneurons](/details-cell/CL0000099), various retinal neurons including [retinal bipolar neurons](/details-cell/CL0000748) and photoreceptor cells, as well as supportive glial cells like [astrocytes](/details-cell/CL0002605). Furthermore, [FAM124A](/details-gene/220108) is significantly expressed in specialized epithelial cells that form critical brain barriers, such as [choroid plexus epithelial cells](/details-cell/CL0000706) and [ependymal cells](/details-cell/CL0000065). This pattern suggests a potential role in the regulation of cerebrospinal fluid and the brain environment. The notable absence of significant expression in major immune or hematopoietic cell lineages in the provided data suggests a highly specialized function outside of the immune system. ## Pathways and Molecular Function The primary molecular function currently attributed to [FAM124A](/details-gene/220108) is protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). This general annotation suggests that the FAM124A protein likely acts as an adapter, scaffold, or component of a larger protein complex. This binding function could be fundamental to its role in the diverse cell types where it is expressed. For instance, in [oligodendrocytes](/details-cell/CL0000128), it may be involved in organizing protein complexes required for the formation, stabilization, or maintenance of the myelin sheath. In [melanocytes](/details-cell/CL0000148), it could mediate interactions necessary for pigment synthesis or the transport of melanosomes. The specific pathways and protein partners involved, however, remain to be elucidated. ## Research Directions The distinct and highly specific expression pattern of [FAM124A](/details-gene/220108) presents several avenues for future investigation, particularly concerning its roles in neurology and dermatology. **Proposed Hypotheses:** 1. Given its exceptionally high significance in [oligodendrocytes](/details-cell/CL0000128), [FAM124A](/details-gene/220108) may be a critical factor in the process of myelination or the maintenance of myelin sheath integrity in the central nervous system. 2. The top-ranking expression of [FAM124A](/details-gene/220108) in [melanocytes](/details-cell/CL0000148) suggests it plays a key, yet undefined, role in melanogenesis, melanosome biogenesis, or pigment transport. Its dysregulation could potentially contribute to pigmentation disorders or melanoma. **Suggested Experimental Approach:** To test the hypothesis regarding its role in myelination, a targeted approach is warranted. A conditional knockout of [FAM124A](/details-gene/220108) in oligodendrocyte precursor cells (OPCs) in a mouse model would be highly informative. Subsequent analysis of these animals for myelination defects using electron microscopy and immunohistochemistry for key myelin proteins (e.g., MBP, PLP1) would directly assess its necessity for this process. In parallel, co-immunoprecipitation of the FAM124A protein from cultured human [oligodendrocytes](/details-cell/CL0000128) followed by mass spectrometry would identify its binding partners, providing mechanistic insight into its function. **Therapeutic Potential:** The strong association of [FAM124A](/details-gene/220108) with [oligodendrocytes](/details-cell/CL0000128) makes it a gene of interest for demyelinating diseases such as multiple sclerosis. If research confirms a pro-myelination function, strategies aimed at *activating* or upregulating FAM124A activity could represent a novel therapeutic avenue for promoting myelin repair. Conversely, its high specificity in [melanocytes](/details-cell/CL0000148) could make it a potential biomarker or target for melanoma, though its precise role in malignancy would first need to be established. Due to its uncharacterized function as a protein-binding molecule, its current druggability is considered low, pending the identification of specific functional domains or interactions.

Genular Protein ID: 2321890394

Symbol: F124A_HUMAN

Name: Protein FAM124A

UniProtKB Accession Codes:

Q86V42 A2A324 Q8N8P9 Q8NE66 Q96NJ9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MINT 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 ProteomicsDB 3 RNAct 1 RefSeq 3 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 546
  • Mass: 60104
  • Checksum: 235FB80A4DF15FFC
  • Sequence:
    • MDPKAGGGGE EDDCVDSGAE TGGSDYSHLS STSSELSVEE AQDPFLVSIH IIADPGESQP 
LQEAIDNVLA WIHPDLPLFR VSERRASRRR RKPPKGAQPA LAVVLFLQEE YGEEQILQLH 
RTLQQPPWRH HHTEQVHGRF LPYLPCSQDF FTLAPGTPLW AIRPVHYGKE IVRFTVYCRY 
DNYADSLRFY QLILRRSPSQ KKADFCIFPI FSNLDVDIQF SLKRLPCDQC PVPTDSSVLE 
FRVRDIGELV PLLPNPCSPI SEGRWQTEDH DGNKILLQAQ RVHKKFPKPG RVHHASEKKR 
HSTPLPSTAV PSHTPGSSQQ SPLNSPHPGP IRTGLPPGHQ QEFAGRANST PNPPWSFQRS 
KSLFCLPTGG PSLASSAEPQ WFSNTGAPGH RASEWRHGHL LSIDDLEGAQ ETDVDTGLRL 
SSSDLSVVSA YSAPSRFCST VETPLPSERC SSHWAAHKDS REGPLPTVSR VTTEASWASL 
PFFTKRSSSS SATARAAPPA PSTSTLTDSS PQLPCDTPKV KQTDGDMPPP PGSAGPGDND 
MEEFYI