SHROOM4 (shroom family member 4)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
SHAP,shrm4
FUSION GENES

Other Information

Locus ID:

NCBI: 57477
MIM: 300579
HGNC: 29215
Ensembl: ENSG00000158352

Variants:

dbSNP: 57477
ClinVar: 57477
TCGA: ENSG00000158352
COSMIC: SHROOM4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158352ENST00000289292Q9ULL8
ENSG00000158352ENST00000376020Q9ULL8
ENSG00000158352ENST00000460112Q9ULL8

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
363795432023X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.1
363795432023X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.1
282626622017Epilepsy and intellectual disability linked protein Shrm4 interaction with GABA(B)Rs shapes inhibitory neurotransmission.16
282626622017Epilepsy and intellectual disability linked protein Shrm4 interaction with GABA(B)Rs shapes inhibitory neurotransmission.16

Citation

Dessen P

SHROOM4 (shroom family member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73237/shroom4-(shroom-family-member-4)