Human (GRCh38.p14)
Description

NIPBL cohesin loading factor [Source:HGNC Symbol;Acc:HGNC:28862]

Gene Synonyms

DKFZP434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, SCC2

Location

Chromosome 5: 36,876,769-37,066,413 forward strand.

GRCh38:CM000667.2

About this gene

This gene has 9 transcripts (splice variants), 302 orthologues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000282516.13NIPBL-201104252804aaENSP00000282516.8
 
Protein coding
CCDS3920Q6KC79-1 NM_133433.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000652901.1NIPBL-20992282649aaENSP00000499536.1
 
Protein coding
A0A590UJS4 -GENCODE basic
ENST00000448238.2NIPBL-20287292697aaENSP00000406266.2
 
Protein coding
CCDS47198Q6KC79-2 -GENCODE basicTSL:1
ENST00000513819.1NIPBL-207452150aaENSP00000421504.1
 
Protein coding
H0Y8M3 -TSL:3CDS 5' and 3' incomplete
ENST00000504430.5NIPBL-2043455No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000505998.5NIPBL-205969No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000503274.1NIPBL-203789No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000509429.1NIPBL-206586No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000514335.1NIPBL-2082948No protein-
 
Retained intron
--TSL:2