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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26059

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 Verweise 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

Cast: RIM-binding protein of the cytomatrix active zone (150 - 911)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS04477 ERC2 Human Pre-designed siRNA Set A Pre-designed Set / 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