Details for: C19orf47

Gene ID: 126526

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: C19orf47

Ensembl ID: ENSG00000160392

Description: chromosome 19 open reading frame 47

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • cardiac muscle cell CL0000746
    CSI 2.53
    rCSI 3.63%
    PRS 98.87
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.52
    rCSI 4.74%
    PRS 98.93
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.33
    rCSI 3.23%
    PRS 98.51
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.97
    rCSI 3.49%
    PRS 98.74
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.96
    rCSI 3.62%
    PRS 98.67
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.56
    rCSI 3.29%
    PRS 98.75

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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  • Node Color (Target Cell CSI, relative to current network):
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    • High
    • Medium
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    • 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 [C19orf47](/details-gene/126526) is a protein-coding gene located on chromosome 19q13.2, which encodes a currently uncharacterized protein. Functional annotation data suggests the protein is localized to the [nucleus](/details-cell/GO:0005634) and [nucleoplasm](/details-cell/GO:0005654) where it participates in protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). Expression data highlights its significant role in highly specialized cell types, with its most prominent expression observed in [cardiac muscle cell](/details-cell/CL0000746) and various subtypes of glutamatergic neurons, indicating a potential function in the molecular machinery of these excitable cells. The gene was initially identified through 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 profile of [C19orf47](/details-gene/126526) points to a specialized function within specific cell lineages. **Overall**, the gene shows the highest significance in [cardiac muscle cell](/details-cell/CL0000746) (CSI: 2.53), suggesting it is a key molecular component of this cell type. Following cardiac muscle, a distinct pattern of significance is observed across several subtypes of excitatory neurons in the cerebral cortex. These include [L6b glutamatergic cortical neuron](/details-cell/CL4023038) (CSI: 1.52), [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040) (CSI: 1.33), and [L5 extratelencephalic projecting glutamatergic cortical neuron](/details-cell/CL4023041) (CSI: 0.97). This consistent expression across functionally related neuronal populations suggests a conserved role for [C19orf47](/details-gene/126526) in the biology of glutamatergic signaling or neuronal identity. The collective data indicate that the gene's primary roles are likely confined to cardiac and specific central nervous system cell types. ## Pathways and Molecular Function The functional annotations for [C19orf47](/details-gene/126526) are currently limited but provide foundational insights into its molecular role. Gene Ontology terms indicate it functions in protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)) and is located within the [nucleus](/details-cell/GO:0005634), specifically the [nucleoplasm](/details-cell/GO:0005654). This combination suggests it may act as a scaffold protein, a transcriptional co-regulator, or part of a larger nuclear protein complex. Although its direct pathway involvement is unknown, large-scale proteomic studies have identified the C19orf47 protein as a substrate for post-translational modifications, including phosphorylation and SUMOylation ([Link](https://doi.org/10.1073/pnas.0805139105), [Link](https://doi.org/10.1038/nsmb.3366)). These modifications are often involved in regulating protein-protein interactions, subcellular localization, and protein stability, consistent with a potential regulatory role within the nucleus of the highly active cardiac and neuronal cells where it is expressed. ## Research Directions The specific expression pattern and nuclear localization of [C19orf47](/details-gene/126526) provide a basis for forming targeted research hypotheses to elucidate its function. ### Proposed Hypotheses: 1. Given its high significance in [cardiac muscle cell](/details-cell/CL0000746) and its annotation as a nuclear, protein-binding molecule, [C19orf47](/details-gene/126526) may function as a transcriptional co-factor or chromatin-associated protein that regulates gene expression programs essential for cardiac muscle contractility, metabolism, or response to hypertrophic stress. 2. The consistent expression of [C19orf47](/details-gene/126526) across multiple glutamatergic neuron subtypes suggests it plays a fundamental role in maintaining excitatory neuronal identity or function, possibly by interacting with nuclear proteins that control synaptic plasticity, neurotransmitter release machinery, or neuronal survival pathways. ### Experimental Approach: To test the first hypothesis regarding its role in cardiac muscle, a powerful approach would be to use human induced pluripotent stem cells (hiPSCs) differentiated into cardiomyocytes (hiPSC-CMs). A knockout of [C19orf47](/details-gene/126526) could be generated in an hiPSC line using CRISPR-Cas9. Upon differentiation, the resulting [C19orf47](/details-gene/126526)-null hiPSC-CMs could be compared to isogenic controls. Key analyses would include single-cell RNA sequencing to identify dysregulated gene networks, calcium imaging and multi-electrode array (MEA) analysis to assess functional deficits in electrophysiology and contractility, and co-immunoprecipitation followed by mass spectrometry (Co-IP/MS) to identify its nuclear binding partners. ### Therapeutic Potential: The therapeutic potential of [C19orf47](/details-gene/126526) is currently undefined due to its uncharacterized function. However, its highly specific expression in cardiac and neuronal tissues is a favorable characteristic for a drug target, as it could potentially minimize off-target effects in other organs. If future studies link loss-of-function mutations to cardiomyopathy or gain-of-function to arrhythmogenic disorders, it could become a target for gene therapy or small molecule inhibition, respectively. Its nuclear localization and protein-binding function suggest that disrupting its key protein-protein interactions could be a viable therapeutic strategy.

Genular Protein ID: 1756623235

Symbol: CS047_HUMAN

Name: Uncharacterized protein C19orf47

UniProtKB Accession Codes:

Q8N9M1 Q8IZ33 Q8N0V9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 2 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 422
  • Mass: 44746
  • Checksum: EA532718B56E24DE
  • Sequence:
    • MVMAALSLVA ACWGRAAADE SVQLPAAPGS SVRARETMVS VTMATSEWIQ FFKEAGIPPG 
PAVNYAVMFV DNRIQKSMLL DLNKEIMNEL GVTVVGDIIA ILKHAKVVHR QDMCKAATES 
VPCSPSPLAG EIRRGTSAAS RMITNSLNHD SPPSTPPRRP DTSTSKISVT VSNKMAAKSA 
KATAALARRE EESLAVPAKR RRVTAEMEGK YVINMPKGTT PRTRKILEQQ QAAKGLHRTS 
VFDRLGAETK ADTTTGSKPT GVFSRLGATP ETDEDLAWDS DNDSSSSVLQ YAGVLKKLGR 
GPAKASPQPA LTVKAKATSS ATTAAAPTLR RLALSSRSGL ERKPESLSKV SIIKRLGAAA 
LVPEAQDSQV TSTKSKSSAE VKVTIKRTLV GPRGSSSSEG LGAQMDHAGT VSVFKRLGRR 
TF

Genular Protein ID: 2879258471

Symbol: A0A804HLH2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A804HLH2

Database IDs:

AlphaFoldDB 1 Bgee 1 CDD 1 CTD 1 DisGeNET 1 EMBL 1 Ensembl 2 GO 1 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 MANE-Select 1 NCBI Taxonomy 1 PANTHER 2 PeptideAtlas 2 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 385
  • Mass: 41020
  • Checksum: CACA2A8A6B072ADB
  • Sequence:
    • MVSVTMATSE WIQFFKEAGI PPGPAVNYAV MFVDNRIQKS MLLDLNKEIM NELGVTVVGD 
IIAILKHAKV VHRQDMCKAA TESVPCSPSP LAGEIRRGTS AASRMITNSL NHDSPPSTPP 
RRPDTSTSKI SVTVSNKMAA KSAKATAALA RREEESLAVP AKRRRVTAEM EGKYVINMPK 
GTTPRTRKIL EQQQAAKGLH RTSVFDRLGA ETKADTTTGS KPTGVFSRLG ATPETDEDLA 
WDSDNDSSSS VLQYAGVLKK LGRGPAKASP QPALTVKAKA TSSATTAAAP TLRRLALSSR 
SGLERKPESL SKVSIIKRLG AAALVPEAQD SQVTSTKSKS SAEVKVTIKR TLVGPRGSSS 
SEGLGAQMDH AGTVSVFKRL GRRTF