SCHIP1 (schwannomin interacting protein 1)

2012-11-01  

Identity

HGNC
LOCATION
3q25.32
LOCUSID
ALIAS
SCHIP-1
FUSION GENES

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
287870852018Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.3
287870852018Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.3
275606982016Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.44
275606982016Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.44
258074952015Schip1 is a novel podocyte foot process protein that mediates actin cytoskeleton rearrangements and forms a complex with Nherf2 and ezrin.9
258074952015Schip1 is a novel podocyte foot process protein that mediates actin cytoskeleton rearrangements and forms a complex with Nherf2 and ezrin.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
117019672001Assignment of the schwannomin-interacting protein 1 (SCHIP1) gene to human chromosome band 3q25 by in situ hybridization and with somatic cell hybrids.1
117019672001Assignment of the schwannomin-interacting protein 1 (SCHIP1) gene to human chromosome band 3q25 by in situ hybridization and with somatic cell hybrids.1

Citation

Dessen P

SCHIP1 (schwannomin interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

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