Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) Homo sapiens
Analyze
Symbol: SMCHD1
Name: structural maintenance of chromosomes flexible hinge domain containing 1
Description: Predicted to have ATPase activity and protein homodimerization activity. Involved in dosage compensation by inactivation of X chromosome; nose development; and regulation of double-strand break repair. Localizes to the Barr body and site of double-strand break. Colocalizes with the nuclear chromosome, telomeric region. Implicated in facioscapulohumeral muscular dystrophy 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BAMS; DKFZp686O0631; FSHD2; KIAA0650; SMC hinge domain-containing protein 1; structural maintenance of chromosomes flexible hinge domain-containing protein 1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl182,655,738 - 2,805,017 (+)EnsemblGRCh38hg38GRCh38
GRCh38182,655,726 - 2,805,017 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37182,655,886 - 2,805,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36182,645,886 - 2,795,015 (+)NCBINCBI36hg18NCBI36
Celera182,531,141 - 2,680,454 (+)NCBI
Cytogenetic Map18p11.32NCBI
HuRef182,617,276 - 2,766,445 (+)NCBIHuRef
CHM1_1182,655,260 - 2,804,386 (+)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

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on SMCHD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1601772
Created: 2007-04-27
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

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