SYNE4 (spectrin repeat containing nuclear envelope family member 4)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
163183
Gene name Gene Name - the full gene name approved by the HGNC.
Spectrin repeat containing nuclear envelope family member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYNE4
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf46, DFNB76, KASH4, Nesp4
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs141202530 C>G,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs200484521 C>T Likely-pathogenic Coding sequence variant, stop gained
rs587777072 AT>- Pathogenic Frameshift variant, coding sequence variant
rs750797779 G>A Likely-pathogenic Stop gained, coding sequence variant, intron variant
rs758800042 ->TC Pathogenic Frameshift variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053, 33058875, 33393904, 33961781
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IEA
GO:0005640 Component Nuclear outer membrane IBA
GO:0005640 Component Nuclear outer membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615535 26703 ENSG00000181392
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N205
Protein name Nesprin-4 (KASH domain-containing protein 4) (KASH4) (Nuclear envelope spectrin repeat protein 4)
Protein function As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role
PDB 6R16 , 6WMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10541 KASH 349 → 404 Nuclear envelope localisation domain Domain
Sequence 
MALSLPLGPRLGSEPLNHPPGAPREADIVGCTVCPASGEESTSPEQAQTLGQDSLGPPEH
FQGGPRGNEPAAHPPRWSTPSSYEDPAGGKHCEHPISGLEVLEAEQNSLHLCLLGLGRRL
QDLEQGLGHWALAQSGMVQLQALQVDLRGAAERVEALLAFGEGLAQRSEPRAWAALEQIL
RALGAYRDSIFRRLWQLQAQLVSYSLVFEEANTLDQDLEVEGDSDWPGPGGVWGPWAPSS
LPTSTELEWDPAGDIGGLGPLGQKTARTLGVPCELCGQRGPQGRGQGLEEADTSHSRQDM
LESGLGHQKRLARHQRHSLLRKPQDKKRQASPHLQDVRLEGNPGAPDPASRQPLTFLLIL
FLLFLLLVGAMFLLPASGGPCCSHARIPRTPYLVLSYVNGLPPV
Sequence length 404
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deafness autosomal recessive nonsyndromic hearing loss 76, hearing loss, autosomal recessive N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Deafness Associate 35682719
Glucosephosphate Dehydrogenase Deficiency Associate 35682719
Hearing Loss Associate 28958982, 35682719
Hearing Loss Sensorineural Associate 28958982