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ERC2 ELKS/RAB6-interacting/CAST family member 2 [ Homo sapiens (human) ]

Gene ID: 26059, updated on 25-Jan-2022

Summary

Official Symbol
ERC2provided by HGNC
Official Full Name
ELKS/RAB6-interacting/CAST family member 2provided by HGNC
Primary source
HGNC:HGNC:31922
See related
Ensembl:ENSG00000187672 MIM:617250; AllianceGenome:HGNC:31922
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAST; CAST1; ELKSL; Spc110; SPBC110
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]
Expression
Biased expression in brain (RPKM 9.8) and ovary (RPKM 0.5) See more
Orthologs
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Genomic context

See ERC2 in Genome Data Viewer
Location:
3p14.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (55508311..56468473, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (55542339..56502495, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2030 Neighboring gene VISTA enhancer hs1472 Neighboring gene uncharacterized LOC105377100 Neighboring gene Wnt family member 5A Neighboring gene ERC2 intronic transcript 1 Neighboring gene microRNA 3938 Neighboring gene RN7SK pseudogene 45 Neighboring gene RNA, 5S ribosomal pseudogene 133 Neighboring gene uncharacterized LOC105377099 Neighboring gene Sharpr-MPRA regulatory region 10072 Neighboring gene coiled-coil domain containing 66 Neighboring gene transcription activation suppressor Neighboring gene Sharpr-MPRA regulatory region 9253 Neighboring gene Rho guanine nucleotide exchange factor 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
EBI GWAS Catalog
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0378, MGC133063, MGC133064

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in maintenance of presynaptic active zone structure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in presynaptic active zone TAS
Traceable Author Statement
more info
PubMed 
located_in presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
ERC protein 2
Names
CAZ-associated structural protein
cytomatrix protein p110

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015576.3NP_056391.1  ERC protein 2

    See identical proteins and their annotated locations for NP_056391.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the supported protein.
    Source sequence(s)
    AA826430, AB002376, AC098478, BC060881
    Consensus CDS
    CCDS46851.1
    UniProtKB/Swiss-Prot
    O15083
    Related
    ENSP00000288221.6, ENST00000288221.11
    Conserved Domains (3) summary
    pfam01496
    Location:390474
    V_ATPase_I; V-type ATPase 116kDa subunit family
    pfam10174
    Location:151911
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam16046
    Location:488555
    FAM76; FAM76 protein

RNA

  1. NR_132749.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA826430, AB002376, AC098478, BC060881, BC111550

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    55508311..56468473 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006155.1XP_016861644.1  ERC protein 2 isoform X15

  2. XM_017006149.1XP_016861638.1  ERC protein 2 isoform X12

  3. XM_017006159.1XP_016861648.1  ERC protein 2 isoform X19

    Conserved Domains (3) summary
    pfam01496
    Location:390474
    V_ATPase_I; V-type ATPase 116kDa subunit family
    pfam10174
    Location:151907
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam16046
    Location:488555
    FAM76; FAM76 protein
  4. XM_017006156.1XP_016861645.1  ERC protein 2 isoform X16

  5. XM_017006148.1XP_016861637.1  ERC protein 2 isoform X11

  6. XM_017006151.1XP_016861640.1  ERC protein 2 isoform X13

  7. XM_017006158.1XP_016861647.1  ERC protein 2 isoform X18

    UniProtKB/Swiss-Prot
    O15083
    Related
    ENSP00000417445.1, ENST00000460849.5
    Conserved Domains (3) summary
    pfam01496
    Location:390474
    V_ATPase_I; V-type ATPase 116kDa subunit family
    pfam10174
    Location:151911
    Cast; RIM-binding protein of the cytomatrix active zone
    pfam16046
    Location:488555
    FAM76; FAM76 protein
  8. XM_017006146.1XP_016861635.1  ERC protein 2 isoform X9

    Conserved Domains (1) summary
    TIGR02168
    Location:189875
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  9. XM_017006142.1XP_016861631.1  ERC protein 2 isoform X6

  10. XM_017006150.1XP_016861639.1  ERC protein 2 isoform X12

  11. XM_017006141.1XP_016861630.1  ERC protein 2 isoform X4

  12. XM_024453448.1XP_024309216.1  ERC protein 2 isoform X20

    Conserved Domains (1) summary
    pfam10174
    Location:151817
    Cast; RIM-binding protein of the cytomatrix active zone
  13. XM_024453447.1XP_024309215.1  ERC protein 2 isoform X5

    Conserved Domains (1) summary
    pfam10174
    Location:151926
    Cast; RIM-binding protein of the cytomatrix active zone
  14. XM_017006139.1XP_016861628.1  ERC protein 2 isoform X2

  15. XM_017006138.1XP_016861627.1  ERC protein 2 isoform X1

  16. XM_017006157.1XP_016861646.1  ERC protein 2 isoform X17

  17. XM_017006145.1XP_016861634.1  ERC protein 2 isoform X8

  18. XM_017006154.1XP_016861643.1  ERC protein 2 isoform X14

  19. XM_017006152.1XP_016861641.1  ERC protein 2 isoform X14

  20. XM_017006153.1XP_016861642.1  ERC protein 2 isoform X14

  21. XM_017006147.1XP_016861636.1  ERC protein 2 isoform X10

  22. XM_017006140.1XP_016861629.1  ERC protein 2 isoform X3

  23. XM_017006143.1XP_016861632.1  ERC protein 2 isoform X7

  24. XM_017006144.1XP_016861633.1  ERC protein 2 isoform X7

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