ZSWIM6 - zinc finger SWIM-type containing 6 Gene

Homo sapiens

Also known as AFND; NEDMAGA

Gene ID: 57688 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_020928.2	NP_065979.1	zinc finger SWIM domain-containing protein 6

Protein Preferred Names

Protein Names

zinc finger SWIM domain-containing protein 6

zinc finger, SWIM domain containing 6

Related Diseases

Diseases

Alias

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

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-RS16205	ZSWIM6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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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