Gene

neb

ID

ZDB-GENE-041111-216

Name

nebulin

Symbol

neb Nomenclature History

Previous Names

im:6904860
im:7001777
im:7144538
im:7150492
si:ch211-168m7.5
wu:fc33b04

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Predicted to have actin filament binding activity. Involved in muscle fiber development. Predicted to localize to Z disc. Used to study nemaline myopathy. Human ortholog(s) of this gene implicated in nemaline myopathy 2. Is expressed in adaxial cell; heart; musculature system; pectoral fin; and somite. Orthologous to human NEB (nebulin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

28 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UCSC scRNA-seq

Thisse Expression Data

IMAGE:7144538 (1 image)
IMAGE:6904860 (38 images)
IMAGE:7150492 (10 images)
IMAGE:7152889 (12 images)
IMAGE:7162426 (5 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 12 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With neb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
nemaline myopathy 2	Alliance	Nemaline myopathy 2, autosomal recessive	256030
		Arthrogryposis multiplex congenita 6	619334

Associated With neb Via Experimental Models

Human Disease	Fish	Conditions	Citations
nemaline myopathy	WT + MO2-neb	standard conditions	Sztal et al., 2015
nemaline myopathy	WT + MO1-neb	standard conditions	Sztal et al., 2015
nemaline myopathy	WT + MO1-neb + MO2-neb	standard conditions	Sztal et al., 2015
nemaline myopathy	neb^{hu2849/hu2849}	standard conditions	Qiu et al., 2019
nemaline myopathy	neb^sa906/sa906	standard conditions	Sztal et al., 2018

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001452	SH3 domain
Domain	IPR035629	Nebulin, SH3 domain
Family	IPR013998	Nebulin-like
Homologous_superfamily	IPR036028	SH3-like domain superfamily
Repeat	IPR000900	Nebulin repeat

Domain Details Per Protein

Protein	Length	Nebulin-like	Nebulin repeat	Nebulin, SH3 domain	SH3 domain	SH3-like domain superfamily
UniProtKB:Q5BLE1 InterPro	335
UniProtKB:A0A2R8QKU1 InterPro	6131
UniProtKB:Q1MSY0 InterPro	6236
UniProtKB:Q1MSX9 InterPro	609
UniProtKB:B0UY60 InterPro	387
UniProtKB:B0UY61 InterPro	6177
UniProtKB:F1Q6R4 InterPro	564
UniProtKB:F1Q824 InterPro	290
UniProtKB:F1R8A4 InterPro	175

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Length (nt)	Analysis
mRNA	neb-206 (1) Ensembl	523 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	neb-207 (1) Ensembl	2133 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	neb-208 (1) Ensembl	19401 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	neb-209 (1) Ensembl	1163 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	neb-003 (1) Ensembl	459 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	neb-004 (1) Ensembl	639 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	neb-005 (1) Ensembl	763 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	neb-008 (1) Ensembl	826 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations