EVC2 (EvC ciliary complex subunit 2)

2014-11-01  

Identity

HGNC
EVC2
LOCATION
4p16.2
LOCUSID
132884
ALIAS
LBN,WAD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 132884
MIM: 607261
HGNC: 19747
Ensembl: ENSG00000173040

Variants:

dbSNP: 132884
ClinVar: 132884
TCGA: ENSG00000173040
COSMIC: EVC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173040ENST00000310917Q86UK5
ENSG00000173040ENST00000344408Q86UK5
ENSG00000173040ENST00000475313A0A0C4DGE7
ENSG00000173040ENST00000509670E9PFT2

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Hedgehog signaling pathwayKEGGhsa04340
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'on' stateREACTOMER-HSA-5632684
Activation of SMOREACTOMER-HSA-5635838

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
371076452023Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.1
371076452023Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.1
366728252022Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.2
366728252022Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.2
337319412021Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.21
337319412021Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.21
298456602019Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.1
304179762019Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.7
298456602019Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.1
304179762019Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.7
293213602017Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.7
293213602017Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.7
265806852016Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.3
266213682016Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.1
267485862016Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.5

Citation

Dessen P

EVC2 (EvC ciliary complex subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62935/evc2-(evc-ciliary-complex-subunit-2)