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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含染色体柔性铰链域的结构维护 1

种属: Homo sapiens

同用名: BAMS; FSHD2

基因 ID: 23347 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质包含在 SMC (染色体结构维护) 蛋白质家族成员中发现的铰链区结构域。[RefSeq 提供，2011 年 12 月]

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 基因产物(1)

mRNA Protein Name
NM_015295.3 NP_056110.2 structural maintenance of chromosomes flexible hinge domain-containing protein 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
23542155 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in dosage compensation by inactivation of X chromosome IDA
IDA: 通过直接分析推断
23542155 GOA
involved in negative regulation of double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
25294876 GOA
involved in nose development IMP
IMP: 通过突变表型推断
28067909 GOA
involved in positive regulation of DNA repair IMP
IMP: 通过突变表型推断
24790221 GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
25294876 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Barr body IDA
IDA: 通过直接分析推断
23542155 GOA
colocalizes with chromosome, telomeric region IDA
IDA: 通过直接分析推断
24270157 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
24790221 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SMCHD1 蛋白结构

HATPase_c_3

HATPase_c_3: Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (143 - 280)

SMC_hinge

SMC_hinge: SMC proteins Flexible Hinge Domain (1721 - 1846)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2005 a.a.
蛋白主名 其他名称

structural maintenance of chromosomes flexible hinge domain-containing protein 1

SMC hinge domain-containing protein 1

SMCHD1 抗体

目录号 产品名 应用 反应物种
HY-P82826 SMCHD1 Antibody (YA2571) WB, IHC-P Human

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13423 SMCHD1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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