SMCHD1 - structural maintenance of chromosomes flexible hinge domain containing 1 Gene

Homo sapiens

Also known as BAMS; FSHD2

Gene ID: 23347 | Gene type: protein coding

About SMCHD1

Cytogenetic location: 18p11.32 Genomic coordinates (GRCh38): 18:2,655,726-2,805,017 (from NCBI)

This gene has 27 transcripts (splice variants), 225 orthologues and is associated with 5 phenotypes. Ubiquitous expression in lymph node (RPKM 16.1), bone marrow (RPKM 16.1) and 25 other tissues.

Summary

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 Products(1)

mRNA	Protein	Name
NM_015295.3	NP_056110.2	structural maintenance of chromosomes flexible hinge domain-containing protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23542155	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in dosage compensation by inactivation of X chromosome	IDA IDA: Inferred from direct assay	23542155	GOA
involved in negative regulation of double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	25294876	GOA
involved in nose development	IMP IMP: Inferred from mutant phenotype	28067909	GOA
involved in positive regulation of DNA repair	IMP IMP: Inferred from mutant phenotype	24790221	GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	25294876	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Barr body	IDA IDA: Inferred from direct assay	23542155	GOA
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	24270157	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	24790221	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMCHD1 Protein Structure

HATPase_c_3

SMC_hinge

0
400
800
1200
1600
2005 a.a.

Protein Preferred Names

Protein Names

structural maintenance of chromosomes flexible hinge domain-containing protein 1

SMC hinge domain-containing protein 1

SMCHD1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82826	SMCHD1 Antibody (YA2571)	WB, IHC-P	Human

Related Diseases

Diseases

Alias

Bosma Arhinia Microphthalmia Syndrome

BAMS	Arhinia, Choanal Atresia, Microphthalmia, And Hypogonadotropic Hypogonadism
Arhinia Choanal Atresia Microphthalmia	Bosma Henkin Christiansen Syndrome
Congenital Absence Of Nose And Anterior Nasopharynx	Arhinia, Choanal Atresia, And Microphthalmia
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Arrhinia With Choanal Atresia And Microphthalmia Syndrome
Bam Syndrome	Bosma Syndrome
Gifford-Bosma Syndrome	Ruprecht Majewski Syndrome
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Bosma Arhinia-Microphthalmia Syndrome
Bosma-Henkin-Christiansen Syndrome

Facioscapulohumeral Muscular Dystrophy 2, Digenic

Facioscapulohumeral Muscular Dystrophy 2	FSHD2
Fshd1b	Facioscapulohumeral Muscular Dystrophy 1b
Fshd2, Digenic	Muscular Dystrophy, Facioscapulohumeral, Type 2
Muscular Dystrophy, Facioscapulohumeral, Type 1b	Fascioscapulohumeral Muscular Dystrophy 2, Digenic
Facioscapulohumeral Muscular Dystrophy Type 2	Digenic Facioscapulohumeral Muscular Dystrophy
Digenic Fshd2	Facioscapulohumeral Muscular Dystrophy Type 1b
Dystrophy, Muscular, Facioscapulohumeral, Type 2

Muscular Dystrophy, Scapulohumeral

Scapulohumeral Muscular Dystrophy

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Pseudovaginal Perineoscrotal Hypospadias

PPSH	Male Pseudohermaphroditism Due To 5-Alpha-Reductase Deficiency
Familial Incomplete Male Pseudohermaphroditism, Type 2	5-Alpha Reductase Deficiency
Microphallus	Steroid 5-Alpha-Reductase Deficiency
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	46,Xy Dsd Due To 5-Alpha-Reductase 2 Deficiency
Steroid 5-Alpha-Reductase 2 Deficiency	Micropenis
MCRPENS	5-Ard Deficiency
Familial Incomplete Male Pseudohermaphroditism Type 2	Hypospadias, Perineoscrotal, Pseudovaginal

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy	Fshd
Landouzy-Dejerine Muscular Dystrophy	Muscular Dystrophy, Facioscapulohumeral
FSHD1	Fshd1a
Muscular Dystrophy, Facioscapulohumeral, Type 1a	Facioscapulohumeral Muscular Dystrophy Type 1a
Fsh Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy 1a
Facioscapulohumeral Atrophy	Facioscapulohumeral Myopathy
Muscular Dystrophy, Facioscapulohumeral, Type 1	Facioscapulohumeral Muscular Dystrophy Type 1
Landouzy Dejerine Muscular Dystrophy	Muscular Dystrophy, Landouzy-Dejerine
Fshmd1a	Facio-Scapulo-Humeral Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy	Facioscapuloperoneal Muscular Dystrophy
Facioscapulohumeral Dystrophy	Fsh Dystrophy
Landouzy-Dejerine Dystrophy	Landouzy-Dejerine Myopathy
Fmd	Facioscapulohumeral Muscular Dystrophy-1a
Muscular Dystrophy Facioscapulohumeral	Dystrophy, Muscular, Facioscapulohumeral
Dystrophy, Muscular, Facioscapulohumeral, Type 1	Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy	Facioscapulohumeral Muscle Dystrophy
Fmd - [Facioscapulohumeral Muscular Dystrophy]	Fsh - [Facioscapulohumeral Muscular Dystrophy]
Fshd - [Facioscapulohumeral Muscular Dystrophy]	Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
Landouzy-Déjérine Muscular Dystrophy

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Digenic Disease

Maxillonasal Dysplasia, Binder Type

Binder Syndrome	Binder Type Maxillonasal Dysplasia
Maxillonasal Dysplasia	Maxillonasal Dysostosis

Chromosome 18p Deletion Syndrome

18p- Syndrome	De Grouchy Syndrome
Monosomy 18p	18p-
Chromosome 18p Deletion

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Hypogonadotropic Hypogonadism

Klinefelter Syndrome	Klinefelter'S Syndrome
Xxy Syndrome	Xxy Trisomy
Hypogonadotropism	47, Xxy
Congenital Idiopathic Hypogonadotropic Hypogonadism	Isolated Congenital Gonadotropin Deficiency
47,Xxy Syndrome	47, Xxy Syndrome
Klinefelters Syndrome	Hypogonadism
Klinefelter Syndrome In Males	Klinefelter Syndrome, Unspecified
Klinefelter Syndrome Karyotype 47, Xxy

Retinal Telangiectasia

Coats Disease

Exudative Retinopathy	Retinal Telangiectasis
Coats' Disease	Leber Miliary Aneurysm
Coats' Syndrome	Congenital Retinal Telangiectasia

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome	Immunodeficiency Syndrome, Variable
Ciid	Centromeric Instability, Immunodeficiency Syndrome
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16	Icf

Muscle Tissue Disease

Bardet-Biedl Syndrome 1

BBS1	Bardet-Biedl Syndrome 1, Modifier Of
Bardet-Biedl Syndrome	BBS
Bardet-Biedl Syndrome, Type 1	Laurence-Moon-Bardet-Biedl Syndrome

Myopathy

Muscular Diseases

Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13423	SMCHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SMCHD1	MGD	MGI:1921605
Macaca mulatta	SMCHD1	VGNC	VGNC:77788
Rattus norvegicus	SMCHD1	RGD	RGD:1307234
Canis familiaris	SMCHD1	VGNC	VGNC:46548
Felis catus	SMCHD1	VGNC	VGNC:65481
Bos taurus	SMCHD1	VGNC	VGNC:35004

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