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

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