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This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1) is a Protein Coding gene. Diseases associated with SMCHD1 include Bosma Arhinia Microphthalmia Syndrome and Facioscapulohumeral Muscular Dystrophy 2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 23542155 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016887 | ATPase activity | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000784 | colocalizes_with nuclear chromosome, telomeric region | IDA | 24270157 |
GO:0001740 | Barr body | IDA | 23542155 |
GO:0005694 | chromosome | IEA | -- |
GO:0035861 | site of double-strand break | IDA | 24790221 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA | -- |
GO:0006302 | double-strand break repair | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0009048 | dosage compensation by inactivation of X chromosome | IDA | 23542155 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - |
ExUns: | 24 | ^ | 25a | · | 25b |
---|---|---|---|---|---|
SP1: | - | ||||
SP2: | - | ||||
SP3: | |||||
SP4: | |||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SMCHD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SMCHD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SMCHD1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SMCHD1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Smchd1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Smchd1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SMCHD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SMCHD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smchd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC570784 30 |
|
||
smchd1 31 |
|
OneToMany | |||
SMCHD1 (2 of 2) 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
39859 | Pathogenic: Facioscapulohumeral muscular dystrophy 2 | 2,762,236(+) | G/A | SYNONYMOUS_VARIANT | |
637006 | Likely Pathogenic: Scapulohumeral muscular dystrophy | 2,770,113(+) | G/A | INTRON_VARIANT | |
637007 | Uncertain Significance: Scapulohumeral muscular dystrophy | 2,732,313(+) | A/G | MISSENSE_VARIANT | |
639216 | Uncertain Significance: Facioscapulohumeral muscular dystrophy 2 | 2,700,796(+) | A/G | MISSENSE_VARIANT | |
642258 | Uncertain Significance: Facioscapulohumeral muscular dystrophy 2 | 2,740,751(+) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3314n100 | CNV | loss | 25217958 |
dgv596e214 | CNV | loss | 21293372 |
esv2677635 | CNV | deletion | 23128226 |
esv2716680 | CNV | deletion | 23290073 |
esv2761986 | CNV | gain | 21179565 |
esv3641565 | CNV | loss | 21293372 |
esv3641566 | CNV | gain | 21293372 |
esv3641567 | CNV | loss | 21293372 |
esv3641568 | CNV | gain | 21293372 |
esv3641569 | CNV | gain | 21293372 |
esv3641570 | CNV | loss | 21293372 |
esv3641572 | CNV | gain | 21293372 |
esv3893063 | CNV | loss | 25118596 |
nsv1063715 | CNV | loss | 25217958 |
nsv1065848 | CNV | gain | 25217958 |
nsv1116247 | CNV | deletion | 24896259 |
nsv1138592 | CNV | deletion | 24896259 |
nsv1138593 | CNV | deletion | 24896259 |
nsv1138594 | CNV | deletion | 24896259 |
nsv482935 | CNV | loss | 15286789 |
nsv576251 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bosma arhinia microphthalmia syndrome |
|
|
facioscapulohumeral muscular dystrophy 2 |
|
|
muscular dystrophy, scapulohumeral |
|
|
facioscapulohumeral muscular dystrophy 1 |
|
|
pseudovaginal perineoscrotal hypospadias |
|
|