Syne4 spectrin repeat containing, nuclear envelope family member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Syne4provided by MGI
Official Full Name: spectrin repeat containing, nuclear envelope family member 4provided by MGI
Primary source: MGI:MGI:2141950
See related: Ensembl:ENSMUSG00000019737 AllianceGenome:MGI:2141950
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: KASH4; Nesp4; 0610012K07Rik
Summary: Involved in establishment of epithelial cell apical/basal polarity. Is integral component of nuclear outer membrane. Is expressed in ganglia; metanephros; olfactory epithelium; pancreas; and pituitary gland. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 76. Orthologous to human SYNE4 (spectrin repeat containing nuclear envelope family member 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in kidney adult (RPKM 27.7), limb E14.5 (RPKM 16.7) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 17.39 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (30014268..30018471)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (30314816..30319045)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nesprin 4 is an outer nuclear membrane protein that can induce kinesin-mediated cell polarization.
Title: Nesprin 4 is an outer nuclear membrane protein that can induce kinesin-mediated cell polarization.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

General gene information

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Markers

AI839550 (e-PCR)
- UniSTS:164353

AI428936 (e-PCR)
- UniSTS:159625

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of epithelial cell apical/basal polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of epithelial cell apical/basal polarity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of meiotic nuclear membrane microtubule tethering complex	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
is_active_in nuclear outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nesprin-4

Names: KASH domain-containing protein 4; nuclear envelope spectrin repeat protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290565.2 → NP_001277494.1 nesprin-4 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC149067

Consensus CDS

CCDS71929.1

UniProtKB/TrEMBL

H3BL35

Related

ENSMUSP00000135637.2, ENSMUST00000176304.8

Conserved Domains (1) summary

pfam10541
Location:276 → 305

KASH; Nuclear envelope localization domain
NM_153577.3 → NP_705805.1 nesprin-4 isoform 1

See identical proteins and their annotated locations for NP_705805.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC149067

Consensus CDS

CCDS21086.1

UniProtKB/Swiss-Prot

Q6PH99, Q8CII8, Q99J42

Related

ENSMUSP00000055874.9, ENSMUST00000054594.15

Conserved Domains (3) summary

smart00150
Location:116 → 197

SPEC; Spectrin repeats

pfam10541
Location:359 → 388

KASH; Nuclear envelope localization domain

pfam16056
Location:270 → 339

DUF4799; Domain of unknown function (DUF4799)