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    SYCE3 synaptonemal complex central element protein 3 [ Homo sapiens (human) ]

    Gene ID: 644186, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SYCE3provided by HGNC
    Official Full Name
    synaptonemal complex central element protein 3provided by HGNC
    Primary source
    HGNC:HGNC:35245
    See related
    Ensembl:ENSG00000217442 MIM:615775; AllianceGenome:HGNC:35245
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    THEG2; C22orf41
    Summary
    Predicted to be involved in reciprocal meiotic recombination; spermatogenesis; and synaptonemal complex assembly. Predicted to act upstream of or within positive regulation of apoptotic process. Predicted to be located in chromosome and nucleus. Predicted to be active in central element. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 28.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See SYCE3 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50551112..50562919, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51061619..51073448, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50989541..51001348, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19330 Neighboring gene KLHDC7B divergent transcript Neighboring gene Sharpr-MPRA regulatory region 13947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13995 Neighboring gene kelch domain containing 7B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13996 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50999771-50999969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13997 Neighboring gene uncharacterized LOC107985568 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19331 Neighboring gene carnitine palmitoyltransferase 1B Neighboring gene Sharpr-MPRA regulatory region 1531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14000 Neighboring gene choline kinase beta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Cloning and expression of a novel mouse testis gene TSEG-2]. Wang ZY, et al. Zhonghua Nan Ke Xue, 2009 Feb. PMID 19323366
    2. A novel mouse synaptonemal complex protein is essential for loading of central element proteins, recombination, and fertility. Schramm S, et al. PLoS Genet, 2011 May. PMID 21637789, Free PMC Article
    3. The PSMA8 subunit of the spermatoproteasome is essential for proper meiotic exit and mouse fertility. Gómez-H L, et al. PLoS Genet, 2019 Aug. PMID 31437213, Free PMC Article
    4. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cloning and expression analysis of a similar gene in mouse.
      Title: [Cloning and expression of a novel mouse testis gene TSEG-2].
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of developmental process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of reproductive process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in reciprocal meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptonemal complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptonemal complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in central element IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in central element ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    synaptonemal complex central element protein 3
    Names
    testis highly expressed gene 2 protein
    testis highly expressed protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001123225.3 → NP_001116697.1  synaptonemal complex central element protein 3

      See identical proteins and their annotated locations for NP_001116697.1

      Status: VALIDATED

      Source sequence(s)
      BQ027928, HY041215
      Consensus CDS
      CCDS46733.1
      UniProtKB/Swiss-Prot
      A1L190
      Related
      ENSP00000385480.3, ENST00000406915.4
      Conserved Domains (1) summary
      pfam15191
      Location:1 → 85
      Synaptonemal_3; Synaptonemal complex central element protein 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50551112..50562919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452261.2 → XP_024308029.1  synaptonemal complex central element protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A1L190
      Conserved Domains (1) summary
      pfam15191
      Location:1 → 85
      Synaptonemal_3; Synaptonemal complex central element protein 3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51061619..51073448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325819.1 → XP_054181794.1  synaptonemal complex central element protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A1L190
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1L190.1 GenPept UniProtKB/Swiss-Prot:A1L190

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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