nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration
regulation of cilium assembly
centriole-centriole cohesion
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
23224
319565
Ensembl
ENSG00000054654
ENSMUSG00000063450
UniProt
Q8WXH0
Q6ZWQ0
RefSeq (mRNA)
NM_015180 NM_182910 NM_182912 NM_182913 NM_182914
NM_001005510
RefSeq (protein)
NP_055995 NP_878914 NP_878917 NP_878918
NP_001005510
Location (UCSC)
Chr 14: 63.76 – 64.23 Mb
Chr 12: 75.86 – 76.16 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Nesprin-2 is a protein that in humans is encoded by the SYNE2 gene.[5][6][7] The human SYNE2 gene consists of 116 exons and encodes nesprin-2, a member of the nuclear envelope (NE) spectrin-repeat (nesprin) family. Nesprins are modular proteins with a central extended spectrin-repeat (SR) rod domain and a C-terminal Klarsicht/ANC-1/Syne homology (KASH) transmembrane domain, which acts as a NE-targeting motif. Nesprin-2 (Nesp2) binds to cytoplasmic F-actin, tethering the nucleus to the cytoskeleton and maintaining the structural integrity of the nucleus.
The human SYNE2 gene encodes a protein of 6,885 amino acids (isoform 1, Nesp2 giant); alternative mRNA splicing produces transcripts encoding a larger isoform and numerous smaller isoforms, some of which are specific to various tissues; alternative start and termination sites within the mRNA also allow translation of smaller isoforms, many possessing unique N- or C-terminal sequences encoded by retained introns. Two mechanisms create splice variants of nesprin-2 with the KASH domain deleted (deltaKASH). In deltaKASH1 variants, deletion of cassette exons 111-112 results in a frame shift that disrupts the KASH domain but retains the 3' untranslated region (UTR) in exon 116 utilized for isoforms containing the KASH domain. This mechanism, which also occurs in SYNE1 mRNA encoding nesprin-1 (enaptin), generates deltaKASH1 isoforms terminating with a distinct 11-amino acid tail (GIAGHSATPPA replacing YPMLRYTNGPPPT in isoforms with KASH). Utilization of an alternative stop codon in exon 115, which is followed by a distinct 3' UTR, generates deltaKASH2 variants. This mechanism truncates larger isoforms without generating a distinct C-terminal sequence. Expression of deltaKASH1 variants occurs largely in brain and kidney, with smaller amounts in heart; deltaKASH2 variants are detected in heart and spleen.[8]
^ abcGRCh38: Ensembl release 89: ENSG00000054654 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000063450 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jul 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
^Apel ED, Lewis RM, Grady RM, Sanes JR (Nov 2000). "Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction". J Biol Chem. 275 (41): 31986–95. doi:10.1074/jbc.M004775200. PMID 10878022.
Nesprin-2 is a protein that in humans is encoded by the SYNE2 gene. The human SYNE2 gene consists of 116 exons and encodes nesprin-2, a member of the...
the cell's ability to sense and respond to mechanical challenges. SYNE1 SYNE2 Spectrin repeat containing nuclear envelope family member 3 Zhang Q, Skepper...