Details for: SPATA22

Gene ID: 84690

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: SPATA22

Ensembl ID: ENSG00000141255

Description: spermatogenesis associated 22

Cell Significance Landscape

Associated with

Significant Cells

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

  • astrocyte of the cerebral cortex CL0002605
    CSI 5.53
    rCSI 12.41%
    PRS 97.96
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 5.23
    rCSI 19.76%
    PRS 97.43
  • cardiac neuron CL0010022
    CSI 3.58
    rCSI 11.45%
    PRS 99.29
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.19
    rCSI 3.73%
    PRS 97.8
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.84
    rCSI 3.03%
    PRS 97.43
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.82
    rCSI 4.81%
    PRS 97.51

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 [SPATA22](/details-gene/84690) (Spermatogenesis Associated 22) is a protein-coding gene located on chromosome 17p13.2. Based on its nomenclature and extensive functional annotation, [SPATA22](/details-gene/84690) is well-established as a critical component of meiosis. Its functions are directly linked to homologous chromosome pairing, meiotic DNA repair, and the overall regulation of the meiotic cell cycle, processes essential for successful spermatogenesis and fertility ([GO:0007129](https://www.ebi.ac.uk/QuickGO/term/GO:0007129), [GO:0000711](https://www.ebi.ac.uk/QuickGO/term/GO:0000711)). Intriguingly, while its canonical role is in the reproductive system, expression data from a broad analysis indicates its most significant expression signatures are in cells of the central nervous system, including the [astrocyte of the cerebral cortex](/details-cell/CL0002605) and various glutamatergic neurons. This suggests a potential, previously uncharacterized function for [SPATA22](/details-gene/84690) within the brain, creating a dichotomy between its established meiotic role and its observed expression landscape. ## Cellular Roles and Expression Landscape The primary and most well-documented role of [SPATA22](/details-gene/84690) is in male germline cells during spermatogenesis, a conclusion strongly supported by its name and associated functional data ([Link](https://doi.org/10.1002/j.1939-4640.2005.tb01085.x)). It is understood to be a key player in the complex chromosomal events that define meiosis, ensuring genomic integrity during the formation of gametes. However, the provided **Overall** expression analysis presents a contrasting picture. In this context, [SPATA22](/details-gene/84690) demonstrates its highest significance in neural cell types: * **Top glial marker:** [astrocyte of the cerebral cortex](/details-cell/CL0002605) (CSI: 5.53) * **Top neuronal markers:** [near-projecting glutamatergic cortical neuron](/details-cell/CL4023012) (CSI: 5.23) and [cardiac neuron](/details-cell/CL0010022) (CSI: 3.58) The high significance scores in these post-mitotic, highly specialized cell types are unexpected for a gene canonically associated with cell division and gametogenesis. This observation suggests that [SPATA22](/details-gene/84690) may have a "moonlighting" function within the central nervous system, potentially related to processes that share molecular machinery with meiosis, such as DNA repair or chromatin organization in long-lived cells. The absence of spermatocytes or other testicular cells from the top expression list highlights this striking discrepancy and indicates that its role in the brain, while perhaps at lower absolute levels, is highly specific compared to other genes within that tissue context. ## Pathways and Molecular Function The functional annotations for [SPATA22](/details-gene/84690) are highly consistent and point to a specialized role in reproduction. Its involvement in biological processes such as '[Homologous chromosome pairing at meiosis](/details-go/GO:0007129)', '[Meiotic dna repair synthesis](/details-go/GO:0000711)', and '[Spermatocyte division](/details-go/GO:0048137)' firmly places it within the meiotic pathway. As a component of the [chromosome](/details-cell/GO:0005694) that exhibits '[protein binding](/details-go/GO:0005515)' capabilities, [SPATA22](/details-gene/84690) likely functions as part of a larger protein complex that mediates the intricate chromosomal synapsis and recombination events during meiosis I. Reconciling these meiotic functions with its prominent expression signature in non-dividing neural cells is a key challenge. It is plausible that the DNA repair and chromatin-modifying aspects of its meiotic function have been co-opted for a different purpose in the brain. Neurons and astrocytes are long-lived cells that must maintain genomic integrity over decades, and [SPATA22](/details-gene/84690) might contribute to these maintenance pathways. ## Research Directions The most compelling area for future research on [SPATA22](/details-gene/84690) is the elucidation of its unexpected role in the central nervous system. The stark contrast between its established meiotic function and its apparent significance in neural cells warrants deeper investigation. ### Testable Hypotheses: 1. **Novel Function in Genomic Maintenance:** [SPATA22](/details-gene/84690) possesses a previously uncharacterized function in the maintenance of genomic stability in post-mitotic neural cells. Its role in meiotic DNA repair may be adapted to repair somatic DNA damage that accumulates in long-lived cells like neurons and astrocytes. 2. **A Remnant Developmental Role:** The expression of [SPATA22](/details-gene/84690) in the adult brain is a stable remnant of a critical function during embryonic neurogenesis, where processes of chromatin remodeling and cell fate determination might utilize components of the meiotic machinery. ### Proposed Key Experiment: To test the hypothesis of a novel function in genomic maintenance (Hypothesis 1), a multi-faceted approach could be employed. First, co-immunoprecipitation followed by mass spectrometry (IP-MS) using [SPATA22](/details-gene/84690) as bait in human astrocyte and neuron-derived cell lines would identify its protein binding partners in a neural context. This could reveal if it interacts with canonical DNA repair proteins. Concurrently, inducing DNA damage (e.g., via irradiation or chemical agents) in these cell lines with and without CRISPR-Cas9-mediated knockout of [SPATA22](/details-gene/84690) would allow for functional assessment. Subsequent analysis using assays like the comet assay or immunofluorescence for DNA damage markers (e.g., γH2AX) would determine if [SPATA22](/details-gene/84690) is necessary for an efficient DNA damage response in neural cells. ### Therapeutic Potential: The therapeutic potential of [SPATA22](/details-gene/84690) is currently unclear and highly speculative. Given its fundamental role in spermatogenesis, systemic inhibition would almost certainly lead to male infertility, making it a poor target for systemic therapies. However, if its putative role in neural DNA repair is confirmed and linked to specific neurodegenerative diseases characterized by genomic instability, it could represent a highly context-specific target. Any therapeutic strategy, such as one aimed at activating its function to enhance neural resilience, would require brain-specific delivery mechanisms to avoid off-target effects on the reproductive system.

Genular Protein ID: 4284548058

Symbol: SPT22_HUMAN

Name: Testis development protein NYD-SP20

UniProtKB Accession Codes:

Q8NHS9 B4DXB1 D3DTI9 J3KN63 Q969H3 Q96JT4

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 11 Ensembl 6 ExpressionAtlas 1 GO 7 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 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 8 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15713825

Title: Novel development-related alternative splices in human testis identified by cDNA microarrays.

PubMed ID: 15713825

DOI: 10.1002/j.1939-4640.2005.tb01085.x

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 363
  • Mass: 41318
  • Checksum: 71E6C8E4BF2526B8
  • Sequence:
    • MKRSLNENSA RSTAGCLPVP LFNQKKRNRQ PLTSNPLKDD SGISTPSDNY DFPPLPTDWA 
WEAVNPELAP VMKTVDTGQI PHSVSRPLRS QDSVFNSIQS NTGRSQGGWS YRDGNKNTSL 
KTWNKNDFKP QCKRTNLVAN DGKNSCPVSS GAQQQKQLRI PEPPNLSRNK ETELLRQTHS 
SKISGCTMRG LDKNSALQTL KPNFQQNQYK KQMLDDIPED NTLKETSLYQ LQFKEKASSL 
RIISAVIESM KYWREHAQKT VLLFEVLAVL DSAVTPGPYY SKTFLMRDGK NTLPCVFYEI 
DRELPRLIRG RVHRCVGNYD QKKNIFQCVS VRPASVSEQK TFQAFVKIAD VEMQYYINVM 
NET

Genular Protein ID: 646136856

Symbol: B4DHW8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DHW8

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 RefSeq 2 SAM 1

Sequence Information:

  • Length: 347
  • Mass: 39635
  • Checksum: 37BC6278E8174C7B
  • Sequence:
    • MKRSLNENSA RSTAGCLPVP LFNQKKRNRQ PLTSNPLKDD SDWAWEAVNP ELAPVMKTVD 
TGQIPHSVSR PLRSQDSVFN SIQSNTGRSQ GGWSYRDGNK NTSLKTWNKN DFKPQCKRTN 
LVANDGKNSC PMSSGAQQQK QLRTPEPPNL SRNKETELLR QTHSSKISGC TMRGLDKNSA 
LQTLKPNFQQ NQYKKQMLDD IPEDNTLKET SLYQLQFKEK ASSLRIISAV IESMKYWREH 
AQKTVLLFEV LAVLDSAVTP GPYYSKTFLM RDGKNTLPCV FYEIDRELPR LIRGRVHRCV 
GNYDQKKNIF QCVSVRPASV SEQKTFQAFV KIADVEMQYY INVMNET

Genular Protein ID: 2433485062

Symbol: F5GWB9_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5GWB9

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 3 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 TreeFam 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 347
  • Mass: 39615
  • Checksum: 9A8F0C4C8F1A4B24
  • Sequence:
    • MKRSLNENSA RSTAGCLPVP LFNQKKRNRQ PLTSNPLKDD SDWAWEAVNP ELAPVMKTVD 
TGQIPHSVSR PLRSQDSVFN SIQSNTGRSQ GGWSYRDGNK NTSLKTWNKN DFKPQCKRTN 
LVANDGKNSC PVSSGAQQQK QLRIPEPPNL SRNKETELLR QTHSSKISGC TMRGLDKNSA 
LQTLKPNFQQ NQYKKQMLDD IPEDNTLKET SLYQLQFKEK ASSLRIISAV IESMKYWREH 
AQKTVLLFEV LAVLDSAVTP GPYYSKTFLM RDGKNTLPCV FYEIDRELPR LIRGRVHRCV 
GNYDQKKNIF QCVSVRPASV SEQKTFQAFV KIADVEMQYY INVMNET