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

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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: 17 figures from 5 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
arthrogryposis multiplex congenita-6	Alliance	Arthrogryposis multiplex congenita 6	619334
nemaline myopathy 2	Alliance	Nemaline myopathy 2, autosomal recessive	256030

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	(2)

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:A0A8M9QK37 InterPro	6112
UniProtKB:A0A8M6Z2Q0 InterPro	6183
UniProtKB:A0A8M9PS57 InterPro	6021
UniProtKB:A0A8M9Q4N2 InterPro	5535
UniProtKB:A0A8M6Z2P4 InterPro	6276
UniProtKB:A0A8M6Z852 InterPro	6233
UniProtKB:A0A8M9PSQ6 InterPro	6270
UniProtKB:A0A8M6Z848 InterPro	6277
UniProtKB:A0A8M9QFX3 InterPro	6276
UniProtKB:A0A8M9PF90 InterPro	6155
UniProtKB:A0A8M9PF84 InterPro	6214
UniProtKB:A0A8M9Q504 InterPro	5578
UniProtKB:A0A8M9PF78 InterPro	6263
UniProtKB:A0A8M9QK40 InterPro	3409
UniProtKB:A0A8M6Z0E1 InterPro	6306
UniProtKB:A0A8M6Z857 InterPro	6074
UniProtKB:A0A8M9Q4M9 InterPro	6074
UniProtKB:A0A8M6Z118 InterPro	6276
UniProtKB:A0A8M3B5M2 InterPro	6307
UniProtKB:A0A8M6Z8L2 InterPro	6043
UniProtKB:A0A8M9PSR3 InterPro	5578
UniProtKB:A0A8M9PY72 InterPro	6192
UniProtKB:A0A8M9QBA5 InterPro	5335
UniProtKB:A0A8M9Q969 InterPro	6190
UniProtKB:A0A8M9PY67 InterPro	6233
UniProtKB:A0A8M9Q965 InterPro	6229
UniProtKB:A0A8M9PY77 InterPro	6117
UniProtKB:A0A8M9Q4M0 InterPro	6227
UniProtKB:A0A8M9Q4L7 InterPro	6264
UniProtKB:A0A8M9PY88 InterPro	6008
UniProtKB:A0A8M6Z0E9 InterPro	6245
UniProtKB:A0A8M6Z8K7 InterPro	6148
UniProtKB:A0A8M9PFA7 InterPro	5535
UniProtKB:A0A8M3B2N0 InterPro	4026
UniProtKB:A0A8M9PS34 InterPro	6234
UniProtKB:A0A8M6Z124 InterPro	6198
UniProtKB:A0A8M9PS40 InterPro	6202
UniProtKB:A0A8M6Z2Q5 InterPro	6064
UniProtKB:A0A8M9Q4Z7 InterPro	6235
UniProtKB:A0A8M6Z861 InterPro	5978
UniProtKB:A0A8M6Z8K2 InterPro	6272

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	neb-201 (1) Ensembl	Ensembl	1,431 nt	Select Tool ZFIN BLAST
mRNA	neb-206 (1) Ensembl	Ensembl	523 nt	Select Tool
mRNA	neb-207 (1) Ensembl	Ensembl	2,133 nt	Select Tool
mRNA	neb-208 (1) Ensembl	Ensembl	19,401 nt	Select Tool
mRNA	neb-209 (1) Ensembl	Ensembl	1,163 nt	Select Tool
ncRNA	neb-003 (1) Ensembl	Ensembl	459 nt	Select Tool
ncRNA	neb-004 (1) Ensembl	Ensembl	639 nt	Select Tool
ncRNA	neb-005 (1) Ensembl	Ensembl	763 nt	Select Tool
ncRNA	neb-008 (1) Ensembl	Ensembl	826 nt	Select Tool

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