R3HDM1 (R3H domain containing 1)

2014-08-01 Affiliation

Identity

HGNC

R3HDM1

LOCATION

2q21.3

LOCUSID

23518

ALIAS

R3HDM

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: 23518
HGNC: 9757
Ensembl: ENSG00000048991

Variants:

dbSNP: 23518
ClinVar: 23518
TCGA: ENSG00000048991
COSMIC: R3HDM1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000048991	ENST00000264160	Q15032
ENSG00000048991	ENST00000409478	Q15032
ENSG00000048991	ENST00000409606	Q15032
ENSG00000048991	ENST00000410054	Q15032
ENSG00000048991	ENST00000425804	H7BZ47
ENSG00000048991	ENST00000429703	H7C207
ENSG00000048991	ENST00000436436	C9JIX1
ENSG00000048991	ENST00000438014	C9JIX3
ENSG00000048991	ENST00000441871	H7C1X4
ENSG00000048991	ENST00000445855	H7C3T7
ENSG00000048991	ENST00000456040	H7C2F9
ENSG00000048991	ENST00000628915	Q15032

Expression (GTEx)

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
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75

Citation

Dessen P

R3HDM1 (R3H domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54568/r3hdm1