NEBL nebulette [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEBLprovided by HGNC
Official Full Name: nebuletteprovided by HGNC
Primary source: HGNC:HGNC:16932
See related: Ensembl:ENSG00000078114 MIM:605491; AllianceGenome:HGNC:16932
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LASP2; LNEBL; C10orf113; bA165O3.1
Summary: This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression: Biased expression in heart (RPKM 103.7), thyroid (RPKM 26.9) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.31

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (20779973..21293050, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (20798520..21311782, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (21068902..21581979, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of NEBL promotes migration and invasion of clear cell renal cell carcinoma by inducing epithelial-mesenchymal transition.
Title: Downregulation of NEBL promotes migration and invasion of clear cell renal cell carcinoma by inducing epithelial-mesenchymal transition.
LASP2 inhibits trophoblast cell migration and invasion in preeclampsia through inactivation of the Wnt/beta-catenin signaling pathway.
Title: LASP2 inhibits trophoblast cell migration and invasion in preeclampsia through inactivation of the Wnt/β-catenin signaling pathway.
LASP2 functions as a potential prognostic factor and therapeutic target in nasopharyngeal carcinoma.
Title: LASP2 functions as a potential prognostic factor and therapeutic target in nasopharyngeal carcinoma.
LASP2 is downregulated in human liver cancer and contributes to hepatoblastoma cell malignant phenotypes through MAPK/ERK pathway.
Title: LASP2 is downregulated in human liver cancer and contributes to hepatoblastoma cell malignant phenotypes through MAPK/ERK pathway.
Knockdown of LASP2 inhibits the proliferation, migration, and invasion of cervical cancer cells.
Title: Knockdown of LASP2 inhibits the proliferation, migration, and invasion of cervical cancer cells.
Upregulation of LASP2 inhibits pancreatic cancer cell migration and invasion through suppressing TGF-beta-induced EMT.
Title: Upregulation of LASP2 inhibits pancreatic cancer cell migration and invasion through suppressing TGF-β-induced EMT.
Survival analysis suggested that overexpressed NEBL in patients with colorectal cancer was associated with a positive prognosis for overall survival.
Title: Profiles of differentially expressed genes and overexpression of NEBL indicates a positive prognosis in patients with colorectal cancer.
LASP2 may play a significant role in suppressing CRC progression and provided a novel biomarker for CRC therapy
Title: LASP2 suppresses colorectal cancer progression through JNK/p38 MAPK pathway meditated epithelial-mesenchymal transition.
The levels of phosphorylated FAK (Tyr397 and Tyr925) were increased after overexpressing Lasp2 and were downregulated by transfecting Lasp2-siRNA.
Title: Lasp2 enhances tumor invasion via facilitating phosphorylation of FAK and predicts poor overall survival of non-small cell lung cancer patients.
predisposition to multibacillary leprosy in Vietnam is associated with CUBN and NEBL common variants in the chromosome 10p13 linkage region
Title: CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122911 (e-PCR)
- UniSTS:135208

D10S2191 (e-PCR)
- UniSTS:31035

SHGC-80667 (e-PCR)
- UniSTS:102222

SHGC-105300 (e-PCR)
- UniSTS:169303

NoName (e-PCR)
- UniSTS:494440

G20655 (e-PCR)
- UniSTS:61303

A006A32 (e-PCR)
- UniSTS:61304

NEBL_9132 (e-PCR)
- UniSTS:468090

NoName (e-PCR)
- UniSTS:487044

D10S1345E (e-PCR)
- UniSTS:42120

WI-13668 (e-PCR)
- UniSTS:75667

WI-13343 (e-PCR)
- UniSTS:76467

RH47055 (e-PCR)
- UniSTS:38069

RH66460 (e-PCR)
- UniSTS:88267

RH118424 (e-PCR)
- UniSTS:109261

SHGC-154553 (e-PCR)
- UniSTS:178132

MARC_14799-14800:1012844373:1 (e-PCR)
- UniSTS:267741

SHGC-34123 (e-PCR)
- UniSTS:50410

Clone Names

FLJ53769, MGC119746, MGC119747, MGC176421

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables filamin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	NAS Non-traceable Author Statement more info	PubMed
enables tropomyosin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle thin filament assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle thin filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in I band	NAS Non-traceable Author Statement more info	PubMed
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nebulette

Names: LIM and SH3 protein 2; LIM-nebulette; actin-binding Z-disk protein

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.

Genomic

NG_017092.1 RefSeqGene

Range

5001..399215

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_411

mRNA and Protein(s)

NM_001173484.2 → NP_001166955.1 nebulette isoform 3

See identical proteins and their annotated locations for NP_001166955.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' and 3' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in a frameshift. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AB209311, BC144201, BM973051, DT220372

UniProtKB/Swiss-Prot

O76041

UniProtKB/TrEMBL

Q59FZ8

Conserved Domains (2) summary

smart00227
Location:98 → 128

NEBU; The Nebulin repeat is present also in Las1

cd09447
Location:5 → 57

LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
NM_001377322.1 → NP_001364251.1 nebulette isoform 4

Status: REVIEWED

Source sequence(s)

AL157398, AL359175, AL731547

Conserved Domains (4) summary

smart00227
Location:98 → 128

NEBU; The Nebulin repeat is present also in Las1

cd09447
Location:5 → 57

LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)

cd11935
Location:244 → 301

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

pfam00880
Location:67 → 94

Nebulin; Nebulin repeat
NM_001377323.1 → NP_001364252.1 nebulette isoform 5

Status: REVIEWED

Source sequence(s)

AL157398, AL359175, AL731547

UniProtKB/TrEMBL

Q8N8M3

Conserved Domains (4) summary

smart00227
Location:82 → 112

NEBU; The Nebulin repeat is present also in Las1

cd11935
Location:197 → 254

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

pfam00880
Location:51 → 78

Nebulin; Nebulin repeat

cl02475
Location:8 → 41

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_001377324.1 → NP_001364253.1 nebulette isoform 6

Status: REVIEWED

Source sequence(s)

AL157398, AL359175, AL731547

UniProtKB/TrEMBL

Q8N8M3

Conserved Domains (3) summary

smart00227
Location:79 → 109

NEBU; The Nebulin repeat is present also in Las1

cd11935
Location:194 → 251

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

cl02475
Location:5 → 38

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_001377325.1 → NP_001364254.1 nebulette isoform 7

Status: REVIEWED

Source sequence(s)

AL157398, AL359175, AL731547

UniProtKB/TrEMBL

Q8N8M3

Conserved Domains (4) summary

smart00227
Location:76 → 106

NEBU; The Nebulin repeat is present also in Las1

cd11935
Location:191 → 248

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

pfam00880
Location:45 → 72

Nebulin; Nebulin repeat

cl02475
Location:2 → 35

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_001377326.1 → NP_001364255.1 nebulette isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 9 and 10, encodes isoform 8.

Source sequence(s)

AL157398, AL359175, AL731547

UniProtKB/TrEMBL

Q8N8M3

Conserved Domains (4) summary

smart00227
Location:62 → 92

NEBU; The Nebulin repeat is present also in Las1

cl02475
Location:1 → 21

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

pfam00880
Location:31 → 58

Nebulin; Nebulin repeat

cl17036
Location:177 → 234

SH3; Src Homology 3 domain superfamily
NM_001377327.1 → NP_001364256.1 nebulette isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 8 and 10, encodes isoform 8.

Source sequence(s)

AL157398, AL359175, AL731547

UniProtKB/TrEMBL

Q8N8M3

Related

ENST00000675702.1

Conserved Domains (4) summary

smart00227
Location:62 → 92

NEBU; The Nebulin repeat is present also in Las1

cl02475
Location:1 → 21

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

pfam00880
Location:31 → 58

Nebulin; Nebulin repeat

cl17036
Location:177 → 234

SH3; Src Homology 3 domain superfamily
NM_001377328.1 → NP_001364257.1 nebulette isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 8 and 9, encodes isoform 8.

Source sequence(s)

AL157398, AL359175, AL731547

UniProtKB/TrEMBL

Q8N8M3

Related

ENST00000675700.1

Conserved Domains (4) summary

smart00227
Location:62 → 92

NEBU; The Nebulin repeat is present also in Las1

cl02475
Location:1 → 21

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

pfam00880
Location:31 → 58

Nebulin; Nebulin repeat

cl17036
Location:177 → 234

SH3; Src Homology 3 domain superfamily
NM_006393.3 → NP_006384.1 nebulette isoform 1

See identical proteins and their annotated locations for NP_006384.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). This isoform (1) is also known as the sarcomeric isoform.

Source sequence(s)

AL157398

Consensus CDS

CCDS7134.1

UniProtKB/Swiss-Prot

B0YJ45, B9EIM9, E9PRX7, O76041, Q2TBD0, Q5VZT2, Q70I54, Q9UIC4

UniProtKB/TrEMBL

B0YJ47

Related

ENSP00000366326.4, ENST00000377122.9

Conserved Domains (3) summary

smart00227
Location:762 → 791

NEBU; The Nebulin repeat is present also in Las1

cd11935
Location:957 → 1014

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

cl26511
Location:294 → 712

Neuromodulin_N; Gap junction protein N-terminal region
NM_213569.2 → NP_998734.1 nebulette isoform 2

See identical proteins and their annotated locations for NP_998734.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. This isoform is referred to as LIM-nebulette or the non-muscle isoform.

Source sequence(s)

AB209311, AJ580772, BI522541, BM973051, CR744526

Consensus CDS

CCDS7133.1

UniProtKB/TrEMBL

Q8N8M3

Related

ENSP00000393896.2, ENST00000417816.2

Conserved Domains (4) summary

smart00227
Location:98 → 128

NEBU; The Nebulin repeat is present also in Las1

cd09447
Location:5 → 57

LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)

cd11935
Location:213 → 270

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

pfam00880
Location:67 → 94

Nebulin; Nebulin repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

20779973..21293050 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424444.1 → XP_047280400.1 nebulette isoform X4
XM_047424443.1 → XP_047280399.1 nebulette isoform X1
XM_011519291.3 → XP_011517593.1 nebulette isoform X1

See identical proteins and their annotated locations for XP_011517593.1

UniProtKB/TrEMBL

B0YJ47

Conserved Domains (3) summary

smart00227
Location:587 → 616

NEBU; The Nebulin repeat is present also in Las1

cd11935
Location:941 → 998

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

pfam00880
Location:307 → 331

Nebulin; Nebulin repeat
XM_005252342.6 → XP_005252399.1 nebulette isoform X2

UniProtKB/TrEMBL

B0YJ47

Conserved Domains (3) summary

smart00227
Location:569 → 598

NEBU; The Nebulin repeat is present also in Las1

cd11935
Location:923 → 980

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

pfam00880
Location:289 → 313

Nebulin; Nebulin repeat
XM_005252343.6 → XP_005252400.1 nebulette isoform X3

See identical proteins and their annotated locations for XP_005252400.1

UniProtKB/TrEMBL

B0YJ47

Conserved Domains (3) summary

smart00227
Location:603 → 632

NEBU; The Nebulin repeat is present also in Las1

cd11935
Location:876 → 933

SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)

pfam00880
Location:323 → 347

Nebulin; Nebulin repeat

RNA

XR_001746995.3 RNA Sequence
XR_242691.6 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

20798520..21311782 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364489.1 → XP_054220464.1 nebulette isoform X4
XM_054364486.1 → XP_054220461.1 nebulette isoform X1
XM_054364485.1 → XP_054220460.1 nebulette isoform X1
XM_054364487.1 → XP_054220462.1 nebulette isoform X2
XM_054364488.1 → XP_054220463.1 nebulette isoform X3

RNA

XR_008488154.1 RNA Sequence
XR_008488155.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001010896.2: Suppressed sequence

Description

NM_001010896.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
NM_001177483.1: Suppressed sequence

Description

NM_001177483.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.
NM_016365.1: Suppressed sequence

Description

NM_016365.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.