Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10389
Gene name Gene Name - the full gene name approved by the HGNC.
Scm polycomb group protein like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCML2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and ma
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019241 hsa-miR-331-3p Sequencing 20371350
MIRT019552 hsa-miR-340-5p Sequencing 20371350
MIRT030462 hsa-miR-24-3p Sequencing 20371350
MIRT052303 hsa-let-7b-5p CLASH 23622248
MIRT049207 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IBA 21873635
GO:0005515 Function Protein binding IPI 24358021, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 21282530
GO:0009653 Process Anatomical structure morphogenesis IMP 10331946
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300208 10581 ENSG00000102098
Protein
UniProt ID Q9UQR0
Protein name Sex comb on midleg-like protein 2
Protein function Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity).
PDB 1OI1 , 2BIV , 2MEM , 2VYT , 4EDU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02820 MBT 67 135 mbt repeat Domain
PF02820 MBT 176 243 mbt repeat Domain
PF17208 RBR 277 324 RNA binding Region Family
PF12140 SLED 356 465 SLED domain Domain
PF00536 SAM_1 629 695 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta, thymus and testis. Detected at lower levels in brain, liver, skeletal muscle, pancreas and ovary. {ECO:0000269|PubMed:10331946}.
Sequence
MGQTVNEDSMDVKKENQEKTPQSSTSSVQRDDFHWEEYLKETGSISAPSECFRQSQIPPV
NDFKVGMKLEARDPRNATSVCIATVIGITGARLRLRLDGSDNRNDFWRLVDSPDIQPVGT
CEKEGDLLQPPLGYQ
MNTSSWPMFLLKTLNGSEMASATLFKKEPPKPPLNNFKVGMKLEA
IDKKNPYLICPATIGDVKGDEVHITFDGWSGAFDYWCKYDSRDIFPAGWCRLTGDVLQPP
GTS
VPIVKNIAKTESSPSEASQHSMQSPQKTTLILPTQQVRRSSRIKPPGPTAVPKRSSS
VKNITPRKKGPNSGKKEKPLPVIC
STSAASLKSLTRDRGMLYKDVASGPCKIVMSTVCVY
VNKHGNFGPHLDPKRIQQLPDHFGPGPVNVVLRRIVQACVDCALETKTVFGYLKPDNRGG
EVITASFDGETHSIQLPPVNSASFALRFLENFCHSLQCDNLLSSQ
PFSSSRGHTHSSAEH
DKNQSAKEDVTERQSTKRSPQQTVPYVVPLSPKLPKTKEYASEGEPLFAGGSAIPKEENL
SEDSKSSSLNSGNYLNPACRNPMYIHTSVSQDFSRSVPGTTSSPLVGDISPKSSPHEVKF
QMQRKSEAPSYIAVPDPSVLKQGFSKDPSTWSVDEVIQFMKHTDPQISGPLADLFRQHEI
DGKALFLLKSDVMMKYMGLKLGPALKLCYYIEKLK
EGKYS
Sequence length 700
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Polycomb repressive complex  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Medulloblastoma Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009 19270706
Associations from Text Mining
Disease Name Relationship Type References
Brain Neoplasms Associate 12952983, 24727478
Infertility Male Associate 39267058
Nance Horan syndrome Associate 35122698
Pancreatic Neoplasms Associate 28611293