ZFIN is now using GRCz12tu for Genomic Data

Gene

rusc2

ID

ZDB-GENE-060526-131

Name

RUN and SH3 domain containing 2

Symbol

rusc2 Nomenclature History

Previous Names

si:ch211-250o15.2 (1)

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to be located in cytoplasm. Predicted to be active in cytoplasmic vesicle. Is expressed in central nervous system. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 61. Orthologous to human RUSC2 (RUN and SH3 domain containing 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7156060 (4 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
ihb76	Allele with one delins	Unknown	Unknown	CRISPR	China Zebrafish Resource Center (CZRC) (order this)
ihb77	Allele with one deletion	Unknown	Unknown	CRISPR	China Zebrafish Resource Center (CZRC) (order this)
ihb78	Allele with one insertion	Unknown	Unknown	CRISPR	China Zebrafish Resource Center (CZRC) (order this)
sa419	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this)

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Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Citations
CRISPR1-rusc2	ihb76 ihb77 ihb78	(2)

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Human Disease

Associated With rusc2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive intellectual developmental disorder 61	Alliance	Intellectual developmental disorder, autosomal recessive 61	617773

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Associated With rusc2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001452	SH3 domain
Domain	IPR004012	RUN domain
Domain	IPR047342	AP-4 complex accessory subunit RUSC2, RUN domain
Family	IPR047343	AP-4 complex accessory subunit RUSC1/2
Homologous_superfamily	IPR036028	SH3-like domain superfamily

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Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M2BCE1	InterPro	1576
UniProtKB:A0A8M2BCI5	InterPro	895
UniProtKB:A2BGP3	InterPro	829
UniProtKB:A0A8M2BCE9	InterPro	1642

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Assembly: GRCz11Chromosome: 5

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	rusc2-201 (1) Ensembl	Ensembl	3,257 nt	Select Tool ZFIN BLAST
mRNA	rusc2-202 (1) Ensembl	Ensembl	6,770 nt	Select Tool ZFIN BLAST
mRNA	rusc2-203 (1) Ensembl	Ensembl	5,535 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	CH211-250O15	BX510917	ZFIN Curated Data
Encodes	EST	IMAGE:7156060	CK691944	Thisse et al., 2004

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Sequences

Genome Browsers

NCBI

ZFIN

Genome Assembly: GRCz12tuChromosome: 5

Type	Accession #	Genome Assembly	Length (nt/aa)	Analysis
RNA	RefSeq:XM_005165190 (1)	GRCz12tu	7753 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:BX510917 (2)		140129 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A8M2BCE9 (1)		1642 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	RUSC2	9	Ensembl:ENSG00000198853 Gene:9853 HGNC:23625 OMIM:611053	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)
Mouse	Rusc2	4	Ensembl:ENSMUSG00000035969 Gene:100213 MGI:2140371	Conserved genome location (synteny) (1) Amino acid sequence comparison (1)

Citations

Include unpublished citations

Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549

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