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SYCE2 synaptonemal complex central element protein 2 [ Homo sapiens (human) ]

Gene ID: 256126, updated on 5-Mar-2024

Summary

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Official Symbol
SYCE2provided by HGNC
Official Full Name
synaptonemal complex central element protein 2provided by HGNC
Primary source
HGNC:HGNC:27411
See related
Ensembl:ENSG00000161860 MIM:611487; AllianceGenome:HGNC:27411
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CESC1
Summary
The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]
Expression
Broad expression in testis (RPKM 7.5), liver (RPKM 2.0) and 18 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
19p13.13
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12898786..12919293, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13023239..13043759, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13009600..13030107, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10180 Neighboring gene CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 2 Neighboring gene KLF transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14090 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756 Neighboring gene glutaryl-CoA dehydrogenase Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:13021591-13021759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13022560-13023262 Neighboring gene Sharpr-MPRA regulatory region 4901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14092 Neighboring gene microRNA 5695 Neighboring gene phenylalanyl-tRNA synthetase subunit alpha Neighboring gene FARSA antisense RNA 1

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. Structural basis of meiotic chromosome synaptic elongation through hierarchical fibrous assembly of SYCE2-TEX12. Dunce JM, et al. Nat Struct Mol Biol, 2021 Aug. PMID 34373646, Free PMC Article
  2. Structural analysis of the human SYCE2-TEX12 complex provides molecular insights into synaptonemal complex assembly. Davies OR, et al. Open Biol, 2012 Jul. PMID 22870393, Free PMC Article
  3. SYCE2 is required for synaptonemal complex assembly, double strand break repair, and homologous recombination. Bolcun-Filas E, et al. J Cell Biol, 2007 Mar 12. PMID 17339376, Free PMC Article
  4. Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis. Costa Y, et al. J Cell Sci, 2005 Jun 15. PMID 15944401
  5. 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

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structural basis of meiotic chromosome synaptic elongation through hierarchical fibrous assembly of SYCE2-TEX12.
    Title: Structural basis of meiotic chromosome synaptic elongation through hierarchical fibrous assembly of SYCE2-TEX12.
  2. a model of chromosome synapsis driven by growth of SYCE2-TEX12 higher-order structures within the CE of the SC.
    Title: Structural analysis of the human SYCE2-TEX12 complex provides molecular insights into synaptonemal complex assembly.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
EBI GWAS Catalog
Seventy-five genetic loci influencing the human red blood cell.
EBI GWAS Catalog

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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Markers

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 cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptonemal complex assembly NAS
Non-traceable Author Statement
more info
 PubMed 
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 nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
synaptonemal complex central element 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.

Genomic

  1. NG_033049.1 RefSeqGene

    Range
    4980..25487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001105578.2 → NP_001099048.1  synaptonemal complex central element protein 2

    See identical proteins and their annotated locations for NP_001099048.1

    Status: REVIEWED

    Source sequence(s)
    AC092069, AD000092, BC035819, DB449708
    Consensus CDS
    CCDS42509.1
    UniProtKB/Swiss-Prot
    B4DYD3, Q6PIF2
    Related
    ENSP00000293695.6, ENST00000293695.8
    Conserved Domains (2) summary
    pfam07307
    Location:48 → 116
    HEPPP_synt_1; Heptaprenyl diphosphate synthase (HEPPP synthase) subunit 1
    pfam16566
    Location:96 → 148
    CREPT; Cell-cycle alteration and expression-elevated protein in tumour

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12898786..12919293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527882.3 → XP_011526184.1  synaptonemal complex central element protein 2 isoform X1

    Conserved Domains (2) summary
    pfam07307
    Location:48 → 116
    HEPPP_synt_1; Heptaprenyl diphosphate synthase (HEPPP synthase) subunit 1
    pfam16566
    Location:96 → 148
    CREPT; Cell-cycle alteration and expression-elevated protein in tumour

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    13023239..13043759 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320453.1 → XP_054176428.1  synaptonemal complex central element protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PIF2.2 GenPept UniProtKB/Swiss-Prot:Q6PIF2

Gene LinkOut

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

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