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Summary Expression Gene Literature (2) GO Terms (12) Nucleotides (155) Proteins (26) Interactants (20) Wiki
XB-GENEPAGE-968671
Gene Symbol:
smchd1

Gene Name:
structural maintenance of chromosomes flexible hinge domain containing 1

Synonyms:
( Add synonyms , Nomenclature history )

Gene Function:


Protein Function :



Interactants:
Loading ...

Diseases: 


Disease Ontology:
facioscapulohumeral muscular dystrophy

OMIM:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 [+]

External Links:
 
Xenbase Gene ID XB-GENE-968672 XB-GENE-6486140 XB-GENE-17345811
Gene Symbol smchd1 smchd1.L smchd1.S
Chromosome Chr06 chr6L chr6S
Molecules tropicalis laevis.L laevis.S
Genomic Sequence Version 9.1 Version 9.2 Version 9.1
CDS Gene model Gene model
Entrez Gene 100380032
108719212
mRNA NCBI Nucleotide NCBI Nucleotide
Protein NCBI Protein NCBI Protein
Genomic
tropicalis laevis.L laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Proteomics tropicalis laevis.L laevis.S
Embryonic Protein Expression Stage profile:
Data Mining tropicalis laevis.L laevis.S
XenMine smchd1 smchd1.L smchd1.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards SMCHD1 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Smchd1 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Smchd1 Ensembl
zebrafish
ZFIN, AGR smchd1 ZFIN Ensembl
chicken
GEISHA SMCHD1 Ensembl
fruit fly
worm
Publications
First De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development., Nat Genet 2017          
Most Recent FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function., J Biol Chem 2018              
All View All Papers 2 paper(s) referencing OMIMs 1 paper(s) referencing Disease Ontology
Functional Ontologies tropicalis laevis.L laevis.S
GO 12 terms 4 terms 0 term
PANTHER smchd1
KEGG Pathways K23113
KOG
Reagents tropicalis laevis.L laevis.S
CRISPRscan Tracks smchd1
Clones Horizon Horizon

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