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 enable actin filament binding activity. Involved in locomotion. Acts upstream of or within regulation of sarcomere organization and sarcomere organization. Predicted to be located in cytoplasm. Predicted to be active in Z disc. Is expressed in adaxial cell; heart; musculature system; pectoral fin; and somite. Used to study nemaline myopathy. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-6 and nemaline myopathy 2. 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: 23 figures from 6 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	neb^{hu2849/hu2849} (AB)	standard conditions	Telfer et al., 2012
nemaline myopathy	neb^{sa30646/sa30646}	standard conditions	Fabian et al., 2024
nemaline myopathy	neb^{sa21475/sa21475}	standard conditions	Fabian et al., 2024
nemaline myopathy	neb^{sa34628/sa34628}	standard conditions	Fabian et al., 2024
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^{sa15371/sa15371}	standard conditions	Fabian et al., 2024
nemaline myopathy	neb^{sa11973/sa11973}	standard conditions	Fabian et al., 2024
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
Family	IPR055297	Nebulin/Nebulette
Homologous_superfamily	IPR036028	SH3-like domain superfamily
Repeat	IPR000900	Nebulin repeat

Domain Details Per Protein

Protein	Additional Resources	Length
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
UniProtKB:A0AB32THM1	InterPro	6264
UniProtKB:A0AB32TJ02	InterPro	6233
UniProtKB:A0AB32TJ50	InterPro	6233
UniProtKB:A0AB32TKB2	InterPro	6307
UniProtKB:A0AB32TKC8	InterPro	6233
UniProtKB:A0AB32TKM9	InterPro	6245
UniProtKB:A0AB32TKR1	InterPro	6295
UniProtKB:A0AB32TKT1	InterPro	6063
UniProtKB:A0AB32TLC0	InterPro	6277
UniProtKB:A0AB32TLD5	InterPro	5578
UniProtKB:A0AB32TMS6	InterPro	6276
UniProtKB:A0AB32TN88	InterPro	6235
UniProtKB:A0AB32TP61	InterPro	6272
UniProtKB:A0AB32TPI8	InterPro	6270
UniProtKB:A0AB32TPR3	InterPro	6276
UniProtKB:A0AB32TPY0	InterPro	6306
UniProtKB:A0AB32TPZ6	InterPro	6198
UniProtKB:A0AB32TR91	InterPro	6276
UniProtKB:A0AB32TYJ2	InterPro	6063

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 ZFIN BLAST
mRNA	neb-207 (1) Ensembl	Ensembl	2,133 nt	Select Tool ZFIN BLAST
mRNA	neb-208 (1) Ensembl	Ensembl	19,401 nt	Select Tool ZFIN BLAST
mRNA	neb-209 (1) Ensembl	Ensembl	1,163 nt	Select Tool ZFIN BLAST
ncRNA	neb-003 (1) Ensembl	Ensembl	459 nt	Select Tool ZFIN BLAST
ncRNA	neb-004 (1) Ensembl	Ensembl	639 nt	Select Tool ZFIN BLAST
ncRNA	neb-005 (1) Ensembl	Ensembl	763 nt	Select Tool ZFIN BLAST
ncRNA	neb-008 (1) Ensembl	Ensembl	826 nt	Select Tool ZFIN BLAST

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