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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNB76
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(6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 31515488
GO:0031309 Component Integral component of nuclear outer membrane IBA 21873635
GO:0031309 Component Integral component of nuclear outer membrane ISS
GO:0034993 Component Meiotic nuclear membrane microtubule tethering complex IEA
GO:0045198 Process Establishment of epithelial cell apical/basal polarity IBA 21873635
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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Deafness DEAFNESS, AUTOSOMAL RECESSIVE 76 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)		 28958982
Nonsyndromic deafness Nonsyndromic Deafness rs606231410, rs794729665, rs730880338, rs1566538321 23348741
Show/Hide Text Mining Associations (4)
Associations from Text Mining
Disease Name Relationship Type References
Deafness Associate 35682719
Glucosephosphate Dehydrogenase Deficiency Associate 35682719
Hearing Loss Associate 28958982, 35682719
Hearing Loss Sensorineural Associate 28958982