ITM2A (integral membrane protein 2A)

2016-08-01 Affiliation

Identity

HGNC

ITM2A

LOCATION

Xq21.1

LOCUSID

9452

ALIAS

BRICD2A,E25A

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9452
MIM: 300222
HGNC: 6173
Ensembl: ENSG00000078596

Variants:

dbSNP: 9452
ClinVar: 9452
TCGA: ENSG00000078596
COSMIC: ITM2A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000078596	ENST00000373298	O43736
ENSG00000078596	ENST00000434584	O43736

Expression (GTEx)

100

150

200

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

References

Pubmed ID	Year	Title	Citations
24516404	2014	Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation.	22
19541402	2009	Enhanced ITM2A expression inhibits chondrogenic differentiation of mesenchymal stem cells.	14
25951193	2015	The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase.	11
26691219	2016	Loss of ITM2A, a novel tumor suppressor of ovarian cancer through G2/M cell cycle arrest, is a poor prognostic factor of epithelial ovarian cancer.	8
27809695	2017	ITM2A Expands Evidence for Genetic and Environmental Interaction in Graves Disease Pathogenesis.	4
26125709	2015	Meta-analysis of differentially expressed genes in ankylosing spondylitis.	2

Citation

Dessen P

ITM2A (integral membrane protein 2A)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55872/itm2a