Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

LIN28B

Aliases

CSDD2

Entrez Gene ID

389421

Gene Name

Lin-28 homolog B

Chromosomal Location

6q16.3-q21

HGNC ID

32207

Summary

The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]

RefSeq DNA

NG_032815.1

RefSeq mRNA

NM_001004317.4

e!Ensembl

Gene	ENSG00000187772
Transcript	ENST00000635857, ENST00000637759, ENST00000345080
Protein	ENSP00000489735, ENSP00000490468, ENSP00000344401

SNPs

Show/Hide all(12)

SNP	SNP ID	Associated disease	References
P173P		Idiopathic central precocious puberty (iCPP)	22964795
198+ 32_33delCT		Idiopathic central precocious puberty (iCPP)	22964795
p.H199R,	rs118000887	Idiopathic central precocious puberty (iCPP)	22964795
g.9575731A>C	rs17065417	Idiopathic central precocious puberty (iCPP)	22964795
c.-11C>T	rs76300431	Idiopathic central precocious puberty (iCPP)	22964795
rs314280	rs314280	Idiopathic central precocious puberty (iCPP)	27304100
rs7759938	rs7759938	Idiopathic central precocious puberty (iCPP)	27304100
rs314263	rs314263	Idiopathic central precocious puberty (iCPP)	27304100
rs314276	rs314276	Idiopathic central precocious puberty (iCPP), Central Precocious Puberty (CPP)	27304100, 28525351
rs221634	rs221634	Central Precocious Puberty (CPP)	28525351
rs160593	rs160593	Central Precocious Puberty (CPP)	28525351
rs9377686	rs9377686	Central Precocious Puberty (CPP)	28525351

Gene Ontology (GO)

Show/Hide all(11 )

GO ID	Ontology	Function	Evidence	Reference
GO:0010587	Biological process	MiRNA catabolic process	IMP	19703396
GO:0031054	Biological process	Pre-miRNA processing	IMP	19703396
GO:0031123	Biological process	RNA 3'-end processing	IMP	19703396
GO:0050779	Biological process	RNA destabilization	IDA	18951094
GO:2000627	Biological process	Positive regulation of miRNA catabolic process	IMP	18951094
GO:2000632	Biological process	Negative regulation of pre-miRNA processing	IDA	18951094
GO:2000635	Biological process	Negative regulation of primary miRNA processing	IDA	18951094
GO:0003723	Molecular function	RNA binding	HDA	22681889
GO:0003723	Molecular function	RNA binding	IDA	19703396
GO:0005515	Molecular function	Protein binding	IPI	19703396
GO:1990837	Molecular function	Sequence-specific double-stranded DNA binding	IDA	28473536

Protein Information

Protein Name

Protein lin-28 homolog B, Lin-28.2, lin-28B

Function

Refseq Proteins

NP_001004317.1

UniProt

Q6ZN17

PDB

4A4I