KDM5D (lysine demethylase 5D)

2016-10-01  

Identity

HGNC
KDM5D
LOCATION
Yq11.223
LOCUSID
8284
ALIAS
HY,HYA,JARID1D,SMCY
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8284
MIM: 426000
HGNC: 11115
Ensembl: ENSG00000012817

Variants:

dbSNP: 8284
ClinVar: 8284
TCGA: ENSG00000012817
COSMIC: KDM5D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000012817ENST00000317961Q9BY66
ENSG00000012817ENST00000317961A0A384MR42
ENSG00000012817ENST00000382806Q9BY66
ENSG00000012817ENST00000415360H7BZF9
ENSG00000012817ENST00000440077E9PFH2
ENSG00000012817ENST00000447300C9JGA3
ENSG00000012817ENST00000541639Q9BY66

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HDMs demethylate histonesREACTOMER-HSA-3214842

References

Pubmed IDYearTitleCitations
156135412005Antibody responses to H-Y minor histocompatibility antigens correlate with chronic graft-versus-host disease and disease remission.132
173201622007Physical and functional association of a trimethyl H3K4 demethylase and Ring6a/MBLR, a polycomb-like protein.105
267478972016JARID1D Is a Suppressor and Prognostic Marker of Prostate Cancer Invasion and Metastasis.29
271859102016Resistance to docetaxel in prostate cancer is associated with androgen receptor activation and loss of KDM5D expression.27
169882132007Functional HY-specific CD8+ T cells are found in a high proportion of women following pregnancy with a male fetus.26
184599612008Spermatogenesis-specific association of SMCY and MSH5.17
192233922009Association of HY-restricting HLA class II alleles with pregnancy outcome in patients with recurrent miscarriage subsequent to a firstborn boy.16
195418082009H-Y incompatibility predicts short-term outcomes for kidney transplant recipients.16
262159262015Two Splice Variants of Y Chromosome-Located Lysine-Specific Demethylase 5D Have Distinct Function in Prostate Cancer Cell Line (DU-145).5
298634972018ATR inhibition controls aggressive prostate tumors deficient in Y-linked histone demethylase KDM5D.5

Citation

Dessen P

KDM5D (lysine demethylase 5D)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56630/kdm5d