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

2014-11-01 Affiliation

Identity

HGNC

KHDC3L

LOCATION

6q13

LOCUSID

154288

ALIAS

C6orf221,ECAT1,HYDM2

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: 154288
MIM: 611687
HGNC: 33699
Ensembl: ENSG00000203908

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000203908	ENST00000370367	Q587J8

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
21885028	2011	Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.	47
17913455	2007	Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.	30
25358348	2015	NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.	21
23232697	2013	Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.	20
23125094	2013	Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.	12
23515668	2013	Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.	8
22909446	2012	Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.	6
23963444	2013	NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.	5
24105752	2013	No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.	3
25376457	2015	No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.	3

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/khdc3l-(kh-domain-containing-3-like-subcortical-maternal-complex-member)