Gene Gene information from NCBI Gene database.
Entrez ID 221711
Gene name Synaptonemal complex protein 2 like
Gene symbol SYCP2L
Synonyms (NCBI Gene)
C6orf177NO145POF24dJ62D2.1
Chromosome 6
Chromosome location 6p24.2
miRNA miRNA information provided by mirtarbase database.
8
miRTarBase ID miRNA Experiments Reference
MIRT016704 hsa-miR-335-5p Microarray 18185580
MIRT1405120 hsa-miR-200b CLIP-seq
MIRT1405121 hsa-miR-200c CLIP-seq
MIRT1405122 hsa-miR-3200-5p CLIP-seq
MIRT1405123 hsa-miR-374c CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000779 Component Condensed chromosome, centromeric region IBA
GO:0000779 Component Condensed chromosome, centromeric region IDA 26362258
GO:0000779 Component Condensed chromosome, centromeric region IEA
GO:0000800 Component Lateral element IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616799 21537 ENSG00000153157
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T4T6
Protein name Synaptonemal complex protein 2-like (SCP-2-like) (145 kDa nucleolar protein homolog) (hsNO145)
Protein function Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18581 SYCP2_ARLD 27 197 Synaptonemal complex 2 armadillo-repeat-like domain Domain
PF18584 SYCP2_SLD 292 403 Synaptonemal complex 2 Spt16M-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the ovary (at protein level) (PubMed:17374641). In the ovaries, expressed in oocytes, including germinal vesicle oocytes, metaphase I and metaphase II oocytes (PubMed:32303603). Also expressed in testis (PubMed:32303603).
Sequence
MQAKNKDALQPIKEDRTGKAQDDAFWLQSLITDAFHDKGFQKIKEYFQQKESHFPQKYNR
LLLYRLDRSINKELDKNEFQSVSLLLKCIQRFLVDGLKEDEPLLIRQGLIPKLVSWFERT
TGILTSEGLASDTSLICVIEDFFDTALIISRSSSEGKIQMLDSFLLSLGFLVTEKTVNHL
LQQEGLKTFNCILHAVP
REERKKFPLSEGMCHLMKDLARTLLTVGDYDQQVAISEALCRL
TIKKSRDELVHKWFDDEVIAEAFKEIKDREFETDSRRFLNHLNNRLGDQRRVYSFPCIAA
FADEHEMRKPADEKLEKFWIDFNLGSQSVTFYIDNAENTLWDSVTLPKEAVMNFSITETE
KIKIFIIYLKKPMIISYKEVMKIEIHFDLQFNISQVSIQALGE
DKQMLPDQTKISSELFS
KSDKEDRESPSGLERETEQAEESTNMVEFMSAEDDRCLITLHLNDQSEPPVIGEPASDSH
LQPVPPFGVPDFPQQPKSHYRKHLFSESNQDSSTSELSWTSNQKKKSLKSYSSRKKTRTR
SNLRILPVFPPSSGSGHEKDQAKLLSPSEKEIPEQNNTTSPKTSEQKFQDSFAFLTAEDS
AQKTELQDPHSLSELSSLKHSEDEEKPKIVNQESLTESTSLKHKLRNLEDKDIPEGSFAK
SQQSRLEEEVAPGSPFSITEERELPEGISTSSLEVVPENLNGSAILPTFENFTKKRKRKY
ELRYRKRPFNSENAKKAPDCLIKLLNQMQLFRLNKLERFQNLVLQELSSLKQDIQALEHL
EKEVLEFWGKQSADLQSFCDLQVLRFNSTQTS
Sequence length 812
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Premature ovarian failure 24 Pathogenic rs1196215011, rs189836527 RCV004557228
RCV004557229
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTIPHOSPHOLIPID SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic rhinitis (disorder) Allergic rhinitis GWASCAT_DG 25085501
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid Syndrome GWASCAT_DG 28424481
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 26503814
★☆☆☆☆
Found in Text Mining only