ERC2 - ELKS/RAB6-interacting/CAST family member 2 Gene

Homo sapiens

Also known as CAST; CAST1; ELKSL; Spc110; SPBC110

Gene ID: 26059 | Gene type: protein coding

About ERC2

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:55,508,311-56,468,467 (from NCBI)

This gene has 13 transcripts (splice variants), 271 orthologues and 1 paralogue. Biased expression in brain (RPKM 9.8) and ovary (RPKM 0.5).

Summary

This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

ERC2 Products(1)

mRNA	Protein	Name
NM_015576.3	NP_056391.1	ERC protein 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12923177	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERC2 Protein Structure

Cast

0
200
400
600
800
957 a.a.

Protein Preferred Names

Protein Names

ERC protein 2

CAZ-associated structural protein

ERC2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ERC2	O15083	MYB	Homo sapiens	P10242	Display Tech	20195357
Intra	ERC2	O15083	MYB	Homo sapiens	P10242	TAP	20195357

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Blastomycosis

Gilchrist'S Disease	North American Blastomycosis
Blastomyces Dermatitidis Infection	Blastomycotic Infection
Infection By Blastomyces Dermatitidis	Gilchrist Disease
Chicago Disease	Chicago Disease Or Disorder
Blastomycosis, Unspecified	Blastomyces Infection

Volkmann Contracture

Ischemic Contracture

Volkmann'S Ischemic Contracture

Corneal Dystrophy, Meesmann, 1

Meesmann Corneal Dystrophy	Mecd
Corneal Dystrophy, Meesmann Epithelial	Juvenile Hereditary Epithelial Dystrophy
Corneal Dystrophy, Juvenile Epithelial Of Meesmann	MECD1
Meesmann Corneal Dystrophy 1	Meesmann Corneal Epithelial Dystrophy
Meesmann Epithelial Corneal Dystrophy	Corneal Dystrophy, Juvenile Epithelial, Of Meesmann
Stocker-Holt Dystrophy	Meesman Dystrophy
Meesman'S Corneal Dystrophy	Juvenile Hereditary Epithelial Dystrophy Of Meesmann
Corneal Dystrophy, Meesmann 1	Juvenile Epithelial Corneal Dystrophy Of Meesmann
Mcd	Dystrophy, Corneal, Meesmann

Adermatoglyphia

ADERM	Immigration Delay Disease
Absence Of Fingerprints	Adg
Congenital Absence Of Fingerprints	Isolated Congenital Adermatoglyphia
Fingerprints, Absence Of	Skin Abnormalities

Pontocerebellar Hypoplasia, Type 16

PCH16	Pontocerebellar Hypoplasia Type 16
Pontocerebellar Hypoplasia 16	Doid:0112333

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04477	ERC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ERC2	VGNC	VGNC:40440
Macaca mulatta	ERC2	VGNC	VGNC:72164
Mus musculus	ERC2	MGD	MGI:1098749
Rattus norvegicus	ERC2	RGD	RGD:708372
Felis catus	ERC2	VGNC	VGNC:61929
Bos taurus	ERC2	VGNC	VGNC:28567
Others	ERC2	NCBI

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