KHDC3L - KH domain containing 3 like, subcortical maternal complex member Gene

Homo sapiens

Also known as ECAT1; HYDM2; C6orf221

Gene ID: 154288 | Gene type: protein coding

About KHDC3L

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:73,362,658-73,364,171 (from NCBI)

This gene has 1 transcript (splice variant), 88 orthologues, 1 paralogue and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

KHDC3L Products(1)

mRNA	Protein	Name
NM_001017361.3	NP_001017361.1	KH domain-containing protein 3

Protein Preferred Names

Protein Names

KH domain-containing protein 3

ES cell-associated transcript 1 protein

Related Diseases

Diseases

Alias

Hydatidiform Mole, Recurrent, 2

HYDM2	Hydatidiform Mole, Complete
Hydatidiform Mole Complete	Mole, Hydatidiform, Recurrent, Type 2

Partial Hydatidiform Mole

Incomplete Hydatidiform Mole	Incomplete Molar Pregnancy
Partial Molar Pregnancy	Hydatidiform Mole, Partial

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole	Gestational Trophoblastic Disease
Complete Hydatidiform Mole	Hydm
HYDM1	Chm
Molar Pregnancy	Hydatidiform Mole, Complete
Hydatid Mole	Complete Molar Pregnancy
Mole, Hydatidiform, Recurrent, Type 1	Gestational Trophoblastic Neoplasms
Hydatidiform Mole, Recurrent, 2	Classical Hydatidiform Mole

Triploidy

Triploidy Syndrome	Triploid Syndrome
Chromosome Triploidy Syndrome	Triploid

Pseudohypoparathyroidism

Familial Pseudohypoparathyroidism	Parathyroid Hormone Resistant Hypoparathyroidism
Php - [Pseudohypoparathyroidism]	Constitutional Chronic Hypocalcaemia

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Gestational Trophoblastic Neoplasm

Hydatidiform Mole	Molar Pregnancy
Gestational Trophoblastic Neoplasia	Gestational Trophoblastic Tumor
Gtn	Gestational Trophoblastic Disease
Gestational Trophoblastic Neoplasms	Hydatidiform Mole, Recurrent, 1
Hydatidiform Mole Benign	Trophoblastic Disease
Trophoblastic Disease Nos	Trophoblastic Disorder
Vesicular Mole Nos	Vesicular Mole
Hydatidiform Mole Nos

Trophoblastic Neoplasm

Trophoblastic Tumor

Trophoblastic Neoplasms

Epithelioid Trophoblastic Tumor

Trophoblastic Tumor, Epithelioid

Placental Site Trophoblastic Tumor

Trophoblastic Tumor Placental Site	Trophoblastic Tumor, Placental Site
Placental Site Trophoblastic Tumour	Placental-Site Gestational Trophoblastic Neoplasm
Placenta Neoplasm	Psst
Deciduoma	Placental Cancer
Primary Malignant Neoplasm Of Placenta

Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b	PHP1B
Pseudohypoparathyroidism Ib	Pseudohypoparathyroidism Type Ib
Php Ib	Pseudohypoparathyroidism 1b

Germ Cell And Embryonal Cancer

Germ Cell And Embryonal Neoplasm

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal	Tndm
Chromosome 6-Associated Transient Diabetes Mellitus	Dmtn
Diabetes Mellitus, 6q24-Related Transient Neonatal	Tndm1
Neonatal Diabetes Mellitus, Transient	Tndm -[Transient Neonatal Diabetes Mellitus]

Germ Cell Cancer

Malignant Germ Cell Tumor	Neoplasms, Germ Cell And Embryonal
Germ Cell Neoplasm	Germ Cell Tumour
Malignant Tumor Of The Germ Cell	Neoplasms Germ Cell
Malignant Germ Cell Neoplasm

Silver-Russell Syndrome 1

Silver-Russell Syndrome	Russell-Silver Syndrome
Silver-Russell Dwarfism	Rss
SRS1	Srs
Silver Russell Dwarfism	Russell Silver Syndrome
Silver Russell Syndrome

Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14	Temple Syndrome Due To Paternal 14q32.2 Microdeletion
Paternal Del(14)(Q32.2)	Temple Syndrome Due To Paternal 14q32.2 Hypomethylation
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Upd(14)Mat

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07235	KHDC3L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KHDC3L	RGD	RGD:1311617
Canis familiaris	KHDC3L	VGNC	VGNC:57241
Mus musculus	KHDC3L	MGD	MGI:1914241
Bos taurus	KHDC3L	VGNC	VGNC:54441
Macaca mulatta	KHDC3L	VGNC	VGNC:73951

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