PVALB (parvalbumin)

2018-02-01  

Identity

HGNC
PVALB
LOCATION
22q12.3
LOCUSID
5816
ALIAS
D22S749
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5816
MIM: 168890
HGNC: 9704
Ensembl: ENSG00000100362

Variants:

dbSNP: 5816
ClinVar: 5816
TCGA: ENSG00000100362
COSMIC: PVALB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100362ENST00000216200P20472
ENSG00000100362ENST00000216200A0A024R1K9
ENSG00000100362ENST00000404171B1AH72
ENSG00000100362ENST00000406910H0Y3U0
ENSG00000100362ENST00000417718P20472
ENSG00000100362ENST00000417718A0A024R1K9
ENSG00000100362ENST00000443735B8ZZ19

Expression (GTEx)

0
100
200
300
400
500
600
700
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

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
128675162003Gene expression deficits in a subclass of GABA neurons in the prefrontal cortex of subjects with schizophrenia.369
242172552014Altered parvalbumin basket cell inputs in the dorsolateral prefrontal cortex of schizophrenia subjects.53
178509802007Quantitative analysis of parvalbumin-immunoreactive cells in the human epileptic hippocampus.51
238254182013Contrast dependence and differential contributions from somatostatin- and parvalbumin-expressing neurons to spatial integration in mouse V1.38
274447952016Pathological Basis for Deficient Excitatory Drive to Cortical Parvalbumin Interneurons in Schizophrenia.33
232549042013Distribution and intrinsic membrane properties of basal forebrain GABAergic and parvalbumin neurons in the mouse.31
150599342004Parvalbumin corrects slowed relaxation in adult cardiac myocytes expressing hypertrophic cardiomyopathy-linked alpha-tropomyosin mutations.28
246285182014Molecular profiles of parvalbumin-immunoreactive neurons in the superior temporal cortex in schizophrenia.24
222723582012Distribution of GABAergic interneurons and dopaminergic cells in the functional territories of the human striatum.22
182972772008Distribution of parvalbumin and calretinin immunoreactive interneurons in motor cortex from multiple sclerosis post-mortem tissue.19

Citation

Dessen P

PVALB (parvalbumin)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57267/pvalb-(parvalbumin)