SYCP3 (synaptonemal complex protein 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50511
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptonemal complex protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYCP3
Synonyms (NCBI Gene) Gene synonyms aliases
COR1, RPRGL4, SCP3, SPGF4
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604759 18130 ENSG00000139351
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
spermatogenic failure Spermatogenic failure 4 rs587776620, rs769825641 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
male infertility Male infertility N/A N/A ClinVar
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease 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