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Aliases for ERC1 Gene

Aliases for ERC1 Gene

  • ELKS/RAB6-Interacting/CAST Family Member 1 2 3 5
  • RAB6 Interacting Protein 2 2 3
  • RAB6IP2 3 4
  • ERC-1 3 4
  • ELKS 3 4
  • ELKS/Rab6-Interacting/CAST Family Member 1 3
  • Rab6-Interacting Protein 2 4
  • KIAA1081 4
  • Cast2 3

External Ids for ERC1 Gene

Previous HGNC Symbols for ERC1 Gene

  • RAB6IP2

Previous GeneCards Identifiers for ERC1 Gene

  • GC12P001100

Summaries for ERC1 Gene

Entrez Gene Summary for ERC1 Gene

  • The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for ERC1 Gene

ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) is a Protein Coding gene. Diseases associated with ERC1 include Differentiated Thyroid Carcinoma and Distal Monosomy 12P. Among its related pathways are NF-kappa B signaling pathway and Canonical NF-kappaB pathway. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and leucine zipper domain binding. An important paralog of this gene is ERC2.

UniProtKB/Swiss-Prot for ERC1 Gene

  • Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.

Gene Wiki entry for ERC1 Gene

Additional gene information for ERC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERC1 Gene

Genomics for ERC1 Gene

GeneHancer (GH) Regulatory Elements for ERC1 Gene

Promoters and enhancers for ERC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J000988 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 667.2 +0.4 353 4.4 HDGF FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 RAD52 ERC1 ENSG00000250132 KDM5A ENSG00000261799 CCDC77 ENSG00000255825 DDX11L8 LINC00942 WNT5B
GH12J000989 Enhancer 0.4 ENCODE 650.7 -1.9 -1919 0.2 ZSCAN5C ZNF501 PRDM1 ERC1 GC12P000986 RAD52 ENSG00000250132
GH12J000749 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13 -237.8 -237825 7 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC WNK1 GC12M000753 RAD52 KDM5A CCDC77 ENSG00000255825 DDX11L8 ERC1 ENSG00000261799 NINJ2
GH12J000948 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 -41.2 -41181 2.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B RAD52 KDM5A ENSG00000261799 ERC1 PIR51139 GC12P000986
GH12J001628 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 9.6 +639.2 639222 2.3 CTCF SUZ12 SIN3A ZFHX2 GATA3 POLR2A RCOR1 CHD2 EZH2 EGR2 WNT5B ENSG00000256706 CACNA2D4 ENSG00000250132 ERC1 RAD52 LINC00940 MIR3649 FBXL14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERC1 gene promoter:
  • Bach1
  • STAT1beta
  • STAT1alpha
  • STAT1
  • ISGF-3
  • AP-4
  • GATA-2
  • GATA-1
  • GATA-3
  • POU2F1

Genomic Locations for ERC1 Gene

Genomic Locations for ERC1 Gene
chr12:990,509-1,495,933
(GRCh38/hg38)
Size:
505,425 bases
Orientation:
Plus strand
chr12:1,099,675-1,605,099
(GRCh37/hg19)
Size:
505,425 bases
Orientation:
Plus strand

Genomic View for ERC1 Gene

Genes around ERC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERC1 Gene

Proteins for ERC1 Gene

  • Protein details for ERC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUD2-RB6I2_HUMAN
    Recommended name:
    ELKS/Rab6-interacting/CAST family member 1
    Protein Accession:
    Q8IUD2
    Secondary Accessions:
    • A2RU77
    • A7E295
    • D3DUP7
    • D3DUP8
    • Q6NVK2
    • Q8IUD3
    • Q8IUD4
    • Q8IUD5
    • Q8NAS1
    • Q9NXN5
    • Q9UIK7
    • Q9UPS1

    Protein attributes for ERC1 Gene

    Size:
    1116 amino acids
    Molecular mass:
    128086 Da
    Quaternary structure:
    • Part of a complex with CHUK, IKBKB and IKBKG. Interacts with CHUK, IKBKB and IKBKG. The interaction with IKBKG is independent of CHUK and IKBKB. Interacts with NFKBIA. Isoform 4 interacts with PPFIA1, and through its C-terminus with the PDZ domains of RIMS1 and RIMS2. Interacts with ERC2/CAST1. Interacts with the GTB-bound forms of RAB6A isoform 1 and isoform 2 and with RAB6B. The interaction was strongest with RAB6B, followed by RAB6A isoform 2 and weakest with RAB6A isoform 1 (By similarity).
    SequenceCaution:
    • Sequence=AAH68006.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA83033.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA90975.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ERC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERC1 Gene

Post-translational modifications for ERC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ERC1 Gene

Domains & Families for ERC1 Gene

Gene Families for ERC1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ERC1 Gene

Suggested Antigen Peptide Sequences for ERC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ERC1: view

No data available for UniProtKB/Swiss-Prot for ERC1 Gene

Function for ERC1 Gene

Molecular function for ERC1 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.

Phenotypes From GWAS Catalog for ERC1 Gene

Gene Ontology (GO) - Molecular Function for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12391317
GO:0017137 Rab GTPase binding ISS --
GO:0030165 PDZ domain binding ISS --
GO:0043522 leucine zipper domain binding NAS 15218148
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with ERC1: view
genes like me logo Genes that share phenotypes with ERC1: view

Animal Models for ERC1 Gene

MGI Knock Outs for ERC1:

Animal Model Products

CRISPR Products

miRNA for ERC1 Gene

miRTarBase miRNAs that target ERC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ERC1 Gene

Localization for ERC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERC1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Note=In neurons, localized closed to presynaptic membrane. Recruited on Golgi membranes by RAB6A in a GTP-dependent manner (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERC1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
golgi apparatus 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm TAS,ISS 15218148
GO:0005794 Golgi apparatus IEA --
GO:0008385 IkappaB kinase complex IDA 15218148
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ERC1: view

Pathways & Interactions for ERC1 Gene

genes like me logo Genes that share pathways with ERC1: view

Pathways by source for ERC1 Gene

2 BioSystems pathways for ERC1 Gene
1 KEGG pathway for ERC1 Gene
2 Cell Signaling Technology pathways for ERC1 Gene

SIGNOR curated interactions for ERC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 15218148
GO:0007252 I-kappaB phosphorylation IDA 15218148
GO:0007275 multicellular organism development NAS 15218148
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi ISS --
genes like me logo Genes that share ontologies with ERC1: view

Drugs & Compounds for ERC1 Gene

(2) Drugs for ERC1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ERC1: view

Transcripts for ERC1 Gene

Unigene Clusters for ERC1 Gene

ELKS/RAB6-interacting/CAST family member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: - -
SP3:

Relevant External Links for ERC1 Gene

GeneLoc Exon Structure for
ERC1
ECgene alternative splicing isoforms for
ERC1

Expression for ERC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERC1 Gene

Protein differential expression in normal tissues from HIPED for ERC1 Gene

This gene is overexpressed in Heart (19.0) and Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERC1 Gene



Protein tissue co-expression partners for ERC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERC1 Gene:

ERC1

SOURCE GeneReport for Unigene cluster for ERC1 Gene:

Hs.601216

mRNA Expression by UniProt/SwissProt for ERC1 Gene:

Q8IUD2-RB6I2_HUMAN
Tissue specificity: Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested.

Evidence on tissue expression from TISSUES for ERC1 Gene

  • Nervous system(4.7)
  • Intestine(4.3)
  • Liver(4.3)
  • Eye(4.2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERC1 Gene

Germ Layers:
  • endoderm
Systems:
  • endocrine
Regions:
Head and neck:
  • neck
  • thyroid
genes like me logo Genes that share expression patterns with ERC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ERC1 Gene

Orthologs for ERC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERC1 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERC1 34 33
  • 93.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERC1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERC1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erc1 16 34 33
  • 89.55 (n)
rat
(Rattus norvegicus)
Mammalia Erc1 33
  • 89 (n)
cow
(Bos Taurus)
Mammalia ERC1 34 33
  • 87.84 (n)
OneToOne
chicken
(Gallus gallus)
Aves ERC1 34 33
  • 82.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 95 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia erc1 33
  • 75.12 (n)
zebrafish
(Danio rerio)
Actinopterygii erc1b 34
  • 81 (a)
OneToMany
ERC1 (3 of 3) 34
  • 81 (a)
OneToMany
erc1a 34 33
  • 70.13 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta brp 34
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elks-1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for ERC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERC1 Gene

ENSEMBL:
Gene Tree for ERC1 (if available)
TreeFam:
Gene Tree for ERC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERC1: view image

Paralogs for ERC1 Gene

Paralogs for ERC1 Gene

(1) SIMAP similar genes for ERC1 Gene using alignment to 7 proteins:

  • RB6I2_HUMAN
  • G8JLD3_HUMAN
  • K7EIZ7_HUMAN
  • K7EKH8_HUMAN
  • K7EP25_HUMAN
  • K7EPD6_HUMAN
  • K7EPP6_HUMAN
genes like me logo Genes that share paralogs with ERC1: view

Variants for ERC1 Gene

Sequence variations from dbSNP and Humsavar for ERC1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000012234 -- 1,091,226(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000025135 -- 1,430,200(+) A/G/T genic_downstream_transcript_variant, intron_variant
rs1000029342 -- 1,178,085(+) A/G intron_variant
rs1000030847 -- 1,097,483(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000032394 -- 1,156,570(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ERC1 Gene

Variant ID Type Subtype PubMed ID
nsv957275 CNV deletion 24416366
nsv952783 CNV deletion 24416366
nsv826177 CNV loss 20364138
nsv820884 CNV deletion 20802225
nsv820397 CNV deletion 20802225
nsv819356 CNV gain 19587683
nsv573 CNV deletion 18451855
nsv572 CNV insertion 18451855
nsv556950 CNV loss 21841781
nsv556949 CNV loss 21841781
nsv556945 CNV loss 21841781
nsv556944 CNV gain 21841781
nsv556943 CNV loss 21841781
nsv556942 CNV gain 21841781
nsv524525 CNV loss 19592680
nsv524382 CNV loss 19592680
nsv520059 CNV loss 19592680
nsv519502 CNV loss 19592680
nsv515491 CNV loss 19592680
nsv480408 CNV novel sequence insertion 20440878
nsv480234 CNV novel sequence insertion 20440878
nsv474130 CNV novel sequence insertion 20440878
nsv470257 CNV loss 18288195
nsv468962 CNV gain 19166990
nsv436147 CNV deletion 17901297
nsv1151973 CNV insertion 26484159
nsv1150947 CNV deletion 26484159
nsv1145578 CNV deletion 24896259
nsv1141232 CNV deletion 24896259
nsv1136144 CNV deletion 24896259
nsv1134189 CNV deletion 24896259
nsv1127242 CNV deletion 24896259
nsv1113452 CNV deletion 24896259
nsv1070498 CNV deletion 25765185
nsv1070080 CNV deletion 25765185
nsv1039946 CNV gain 25217958
nsv1039826 CNV loss 25217958
nsv1039488 CNV gain 25217958
esv999151 CNV insertion 20482838
esv998250 CNV deletion 20482838
esv8484 CNV loss 19470904
esv7389 CNV loss 19470904
esv3892124 CNV loss 25118596
esv3628284 CNV loss 21293372
esv3628283 CNV gain 21293372
esv3628282 CNV loss 21293372
esv3628279 CNV loss 21293372
esv3628278 CNV loss 21293372
esv3628277 CNV loss 21293372
esv3628274 CNV loss 21293372
esv3628273 CNV loss 21293372
esv3628272 CNV gain 21293372
esv3628270 CNV gain 21293372
esv3628268 CNV loss 21293372
esv3580034 CNV loss 25503493
esv3580033 CNV loss 25503493
esv3580032 CNV loss 25503493
esv3580022 CNV loss 25503493
esv3548617 CNV deletion 23714750
esv3548615 CNV deletion 23714750
esv3548614 CNV deletion 23714750
esv3548612 CNV deletion 23714750
esv3450451 CNV duplication 20981092
esv3401754 CNV insertion 20981092
esv3368545 CNV insertion 20981092
esv3303188 CNV mobile element insertion 20981092
esv32742 CNV loss 17666407
esv2745392 CNV deletion 23290073
esv2745391 CNV deletion 23290073
esv2745390 CNV deletion 23290073
esv2745389 CNV deletion 23290073
esv2745388 CNV deletion 23290073
esv2745387 CNV deletion 23290073
esv2745385 CNV deletion 23290073
esv2745383 CNV deletion 23290073
esv2745381 CNV deletion 23290073
esv2745380 CNV deletion 23290073
esv2745379 CNV deletion 23290073
esv2745378 CNV deletion 23290073
esv2745377 CNV deletion 23290073
esv2745376 CNV deletion 23290073
esv2745374 CNV deletion 23290073
esv2745373 CNV deletion 23290073
esv2676743 CNV deletion 23128226
esv2674379 CNV deletion 23128226
esv2672320 CNV deletion 23128226
esv2670650 CNV deletion 23128226
esv2669538 CNV deletion 23128226
esv2668000 CNV deletion 23128226
esv2666524 CNV deletion 23128226
esv2662980 CNV deletion 23128226
esv26525 CNV gain 19812545
esv2617836 CNV deletion 19546169
esv2510640 CNV deletion 19546169
esv2487628 CNV deletion 19546169
esv24813 CNV gain 19812545
esv2427493 CNV deletion 19546169
esv2385521 CNV deletion 18987734
esv1992942 CNV deletion 18987734
esv1717843 CNV deletion 17803354
esv1676497 CNV insertion 17803354
esv1639608 CNV insertion 17803354
esv1611548 CNV insertion 17803354
esv1387135 CNV deletion 17803354
esv1180168 CNV deletion 17803354
esv1170628 CNV insertion 17803354
esv1002676 CNV deletion 20482838
esv1000106 CNV insertion 20482838
dgv749n106 CNV deletion 24896259
dgv748n106 CNV tandem duplication 24896259
dgv436e212 CNV loss 25503493
dgv435e212 CNV loss 25503493
dgv434e212 CNV loss 25503493
dgv256n67 CNV gain 20364138
dgv256e199 CNV deletion 23128226
dgv2261n54 CNV loss 21841781
dgv2251n54 CNV gain 21841781
dgv161e201 CNV deletion 23290073
dgv1337n100 CNV loss 25217958

Variation tolerance for ERC1 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.33; 85.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERC1 Gene

Human Gene Mutation Database (HGMD)
ERC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERC1 Gene

Disorders for ERC1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ERC1 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
distal monosomy 12p
  • 12p13.33 microdeletion syndrome
breast papillary carcinoma
  • breast solid papillary carcinoma
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
childhood apraxia of speech
  • articulatory apraxia
- elite association - COSMIC cancer census association via MalaCards
Search ERC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RB6I2_HUMAN
  • Note=A chromosomal aberration involving ERC1/RAB6IP2 is found in papillary thyroid carcinomas (PTCs). Translocation t(10;12)(q11;p13) involving RET. In vitro, isoform 1, isoform 3 and isoform 5 participating in a ERC1-RET fusion protein activate tyrosine-protein kinase activity. {ECO:0000269 PubMed:10337992}.

Additional Disease Information for ERC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERC1: view

No data available for Genatlas for ERC1 Gene

Publications for ERC1 Gene

  1. Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit. (PMID: 15218148) Ducut Sigala JL … Verma IM (Science (New York, N.Y.) 2004) 3 4 22 58
  2. Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma. (PMID: 12203787) Nakata T … Minami S (Genes, chromosomes & cancer 2002) 3 4 22 58
  3. Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma. (PMID: 10697956) Yokota T … Emi M (Journal of human genetics 2000) 2 3 22 58
  4. Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma. (PMID: 10337992) Nakata T … Emi M (Genes, chromosomes & cancer 1999) 3 4 22 58
  5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58

Products for ERC1 Gene

Sources for ERC1 Gene

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