KHDC3L (KH domain containing 3 like, subcortical maternal complex member)

2014-11-01  

Identity

HGNC
KHDC3L
LOCATION
6q13
LOCUSID
154288
ALIAS
C6orf221,ECAT1,HYDM2

Other Information

Locus ID:

NCBI: 154288
MIM: 611687
HGNC: 33699
Ensembl: ENSG00000203908

Variants:

dbSNP: 154288
ClinVar: 154288
TCGA: ENSG00000203908
COSMIC: KHDC3L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203908ENST00000370367Q587J8

Expression (GTEx)

0
1
2
3
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
N/A

References

Pubmed IDYearTitleCitations
379189462023Familial recurrent molar pregnancy: positive for KHDC3L gene mutation.0
379189462023Familial recurrent molar pregnancy: positive for KHDC3L gene mutation.0
356436362022Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.5
356436362022Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.5
336394142021KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.2
336394142021KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.2
312203062019NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.3
316099752019KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells.21
312203062019NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.3
316099752019KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells.21
294638822018The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.19
294638822018The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.19
279179072016ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos.7
279179072016ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos.7
253583482015NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.30

Citation

Dessen P

KHDC3L (KH domain containing 3 like, subcortical maternal complex member)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64844/gene-explorer/case-report-explorer/js/_common.js