2. Gene
  3. ZSWIM6 - zinc finger SWIM-type containing 6 Gene

ZSWIM6 - zinc finger SWIM-type containing 6 Gene

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

中文名称：含锌指 SWIM 型 6

种属: Homo sapiens

同用名: AFND; NEDMAGA

基因 ID: 57688 | 基因类型: protein coding

关于 ZSWIM6

Cytogenetic location: 5q12.1 Genomic coordinates (GRCh38): 5:61,332,258-61,546,172 (from NCBI)

This gene has 1 transcript (splice variant), 270 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in gall bladder (RPKM 6.8), brain (RPKM 6.4) and 25 other tissues.

功能概要

该基因编码的蛋白质包含锌指 SWI2/SNF2 和 MuDR (SWIM) 结构域。具有 SWIM 结构域的蛋白质已在多种物种中被发现，预计会与 DNA 或蛋白质相互作用。该基因的突变导致肢端性额鼻发育不全。[RefSeq 提供，2017 年 4 月]

The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]

ZSWIM6 基因产物(1)

mRNA Protein Name
NM_020928.2 NP_065979.1 zinc finger SWIM domain-containing protein 6
蛋白主名 其他名称

zinc finger SWIM domain-containing protein 6

zinc finger, SWIM domain containing 6

关联疾病

疾病名称 别名
Acromelic Frontonasal Dysostosis

AFND

Acromelic Frontonasal Dysplasia

Frontonasal Dysplasia Acromelic

Toriello Syndrome

Dysostosis, Acromelic Frontonasal

Sweet Syndrome
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features

NEDMAGA
Dysostosis

Dysostoses
Frontonasal Dysplasia 1

Frontorhiny

Frontonasal Dysplasia

Fnd

Frontonasal Malformation

Fnm

Median Facial Cleft Syndrome

Midline Facial Cleft

FND1

Median Cleft Face Syndrome

Median Cleft Syndrome

Frontonasal Dysplasia Sequence

Median Facial Cleft

Tessier Number 0-14 And 30 Facial Cleft

Alx3-Related Frontonasal Dysplasia

Frontonasal Dysplasia Type 1

Isolated Median Cleft Face Syndrome

Doid:0081044

Doid:0081045

Dysplasia, Frontonasal, Type
Shukla-Vernon Syndrome

SHUVER
Lissencephaly 6

Lis6
Widow'S Peak

Widow'S Peak Syndrome

Widow'S Peak, Ptosis, And Skeletal Anomalies
Facial Cleft

Craniofacial Cleft

Craniofacial Clefts
Parietal Foramina

Enlarged Parietal Foramina

Hereditary Cranium Bifidum

Symmetric Parietal Foramina

Catlin Marks

Foramina Parietalia Permagna

Caitlin Marks

Cranium Bifidum

Cranium Bifidum Occultum

Fenestrae Parietals Symmetricae

Fpp

Giant Parietal Foramina

Pfm

Fenestrae Parietales Symmetricae

Foramina, Parietal
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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-RS16205 ZSWIM6 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 ZSWIM6 MGD MGI:1914513
Canis familiaris ZSWIM6 VGNC VGNC:48859
Rattus norvegicus ZSWIM6 RGD RGD:1306624
Bos taurus ZSWIM6 VGNC VGNC:37386
Felis catus ZSWIM6 VGNC VGNC:67386
Macaca mulatta ZSWIM6 VGNC VGNC:110419
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