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

Also Known as BAMS; FSHD2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23347

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23542155	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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 Set	/	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