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Gene: SHROOM4 (shroom family member 4) Homo sapiens
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Symbol: SHROOM4
Name: shroom family member 4
Description: This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA1202; second homolog of apical protein; SHAP; shrm4
Orthologs:
Mus musculus (house mouse) : Shroom4 (shroom family member 4)  MGI  Alliance
Rattus norvegicus (Norway rat) : Shroom4 (shroom family member 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Shroom4 (shroom family member 4)
Pan paniscus (bonobo/pygmy chimpanzee) : SHROOM4 (shroom family member 4)
Canis lupus familiaris (dog) : SHROOM4 (shroom family member 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Shroom4 (shroom family member 4)
Sus scrofa (pig) : SHROOM4 (shroom family member 4)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X50,575,534 - 50,814,164 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X50,334,642 - 50,557,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X50,351,387 - 50,573,784 (-)NCBINCBI36hg18NCBI36
CeleraX54,378,231 - 54,600,597 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX47,778,364 - 48,000,648 (-)NCBIHuRef
CHM1_1X50,414,359 - 50,636,708 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on SHROOM4
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1606521
Created: 2007-04-29
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.