SCHIP1 (schwannomin interacting protein 1)

2012-11-01  

Identity

HGNC
SCHIP1
LOCATION
3q25.32
LOCUSID
29970
ALIAS
SCHIP-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29970
HGNC: 15678
Ensembl: ENSG00000283154

Variants:

dbSNP: 29970
ClinVar: 29970
TCGA: ENSG00000283154
COSMIC: SCHIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000283154ENST00000460298C9J366
ENSG00000283154ENST00000485419B3KU38
ENSG00000283154ENST00000638311A0A1W2PR78
ENSG00000283154ENST00000639298A0A1W2PPY3
ENSG00000283154ENST00000639448A0A1W2PR91
ENSG00000283154ENST00000639631A0A1W2PP08
ENSG00000283154ENST00000639979A0A1W2PRV6
ENSG00000283154ENST00000640015A0A1W2PRY4
ENSG00000283154ENST00000640565A0A1W2PQT1

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
275606982016Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.23
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
258074952015Schip1 is a novel podocyte foot process protein that mediates actin cytoskeleton rearrangements and forms a complex with Nherf2 and ezrin.7
117019672001Assignment of the schwannomin-interacting protein 1 (SCHIP1) gene to human chromosome band 3q25 by in situ hybridization and with somatic cell hybrids.1
287870852018Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.0

Citation

Dessen P

SCHIP1 (schwannomin interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53043/schip1