ZSWIM6 - zinc finger SWIM-type containing 6 Gene

Also Known as AFND; NEDMAGA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57688

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

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
Others ZSWIM6 NCBI