SYCP3 (synaptonemal complex protein 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 50511
Gene name Synaptonemal complex protein 3
Gene symbol SYCP3
Synonyms (NCBI Gene)
COR1RPRGL4SCP3SPGF4
Chromosome 12
Chromosome location 12q23.2
Summary This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT1405127 hsa-miR-1279 CLIP-seq
MIRT1405128 hsa-miR-487a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000775 Component Chromosome, centromeric region ISS
GO:0000795 Component Synaptonemal complex IBA
GO:0000795 Component Synaptonemal complex IDA 9774970
GO:0000800 Component Lateral element ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604759 18130 ENSG00000139351
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZU3
Protein name Synaptonemal complex protein 3 (SCP-3)
Protein function Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis a
PDB 4CPC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04803 Cor1 83 → 214 Cor1/Xlr/Xmr conserved region Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:12213195, ECO:0000269|PubMed:14643120}.
Sequence 
MVSSGKKYSRKSGKPSVEDQFTRAYDFETEDKKDLSGSEEDVIEGKTAVIEKRRKKRSSA
GVVEDMGGEVQNMLEGVGVDINKALLAKRKRLEMYTKASLKTSNQKIEHVWKTQQDQRQK
LNQEYSQQFLTLFQQWDLDMQKAEEQEEKILNMFRQQQKILQQSRIVQSQRLKTIKQLYE
QFIKSMEELEKNHDNLLTGAQNEFKKEMAMLQKKIMMETQQQEIASVRKSLQSMLF
Sequence length 236
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Homologous recombination  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Pathogenic rs769825641 RCV005887319
Spermatogenic failure 4 Pathogenic rs761136347, rs587776620, rs769825641 RCV000005702
RCV000005703
RCV000005704
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility Uncertain significance rs1952350079 RCV001078145
Spermatogenic Failure Benign; Likely benign rs145003954, rs370467855 RCV000330582
RCV000355155
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 19110213
Arrest of spermatogenesis Associate 20075417
Azoospermia Associate 19110213
Azoospermia Nonobstructive Associate 16824523
Carcinoma Non Small Cell Lung Associate 23069255, 28623914
Heart Arrest Inhibit 16824523
Hypogonadism and Testicular Atrophy Inhibit 16824523
Infertility Associate 36241908
Infertility Male Associate 36446526
Lymphatic Metastasis Stimulate 23069255