KHDC3L KH domain containing 3 like, subcortical maternal complex member [Homo sapiens (human)] - Gene

Summary

Official Symbol: KHDC3Lprovided by HGNC
Official Full Name: KH domain containing 3 like, subcortical maternal complex memberprovided by HGNC
Primary source: HGNC:HGNC:33699
See related: Ensembl:ENSG00000203908 MIM:611687; AllianceGenome:HGNC:33699
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ECAT1; HYDM2; C6orf221
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6q13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (73362658..73364171)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (74539355..74540868)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (74072381..74073894)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Familial recurrent molar pregnancy: positive for KHDC3L gene mutation.
Title: Familial recurrent molar pregnancy: positive for KHDC3L gene mutation.
Novel 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.
Title: Novel 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.
KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.
Title: KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.
The study specified KHDC3L as a new recurrent pregnancy loss risk gene, and recognized its critical function in DNA damage repair pathways.
Title: KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells.
This study was designed to identify mutations of gene NLRP7 and KHDC3L in biparental complete moles.
Title: NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles.
all products of conception from patients with at least two hydatidiform moles and recessive mutations in NLRP7 or KHDC3L are diploid biparental, while those from patients without mutations are highly heterogeneous and only a minority of them are diploid biparental
Title: The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
study indicates that ECAT1 may play a role in meiotic progression by maintaining the accuracy of spindle assembly in human oocytes, thus promoting oocyte maturation and subsequent development of the embryo.
Title: ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos.
No disease-causing mutations were identified in NLRP2, NLRP7 and KHDC3L in cohorts of unexplained infertility and recurrent pregnancy loss.
Title: No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.
NLRP7 and KHDC3L localize to the cytoskeleton and are predominant at the cortical region in growing oocytes.
Title: NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.
The absence of mutations in women with Androgenetic complete hydatidiform moles supports a role for NLRP7 or KHDC3L in Biparental hydatidiform moles only.
Title: No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hydatidiform mole, recurrent, 2 MedGen: C3280352 OMIM: 614293 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD02356 (e-PCR)
- UniSTS:283455

RH102312 (e-PCR)
- UniSTS:96646

ECD23541 (e-PCR)
- UniSTS:304525

REN32522 (e-PCR)
- UniSTS:357322

REN32523 (e-PCR)
- UniSTS:357323

REN32524 (e-PCR)
- UniSTS:357324

REN32525 (e-PCR)
- UniSTS:357325

REN32526 (e-PCR)
- UniSTS:357326

REN32527 (e-PCR)
- UniSTS:357327

REN32528 (e-PCR)
- UniSTS:357328

REN32529 (e-PCR)
- UniSTS:357329

REN32530 (e-PCR)
- UniSTS:357330

REN32531 (e-PCR)
- UniSTS:357331

REN32532 (e-PCR)
- UniSTS:357332

REN32533 (e-PCR)
- UniSTS:357333

REN32534 (e-PCR)
- UniSTS:357334

REN32535 (e-PCR)
- UniSTS:357335

REN32536 (e-PCR)
- UniSTS:357336

ECD03032 (e-PCR)
- UniSTS:284121

REN32537 (e-PCR)
- UniSTS:357337

REN32538 (e-PCR)
- UniSTS:357338

REN32539 (e-PCR)
- UniSTS:357339

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of organelle localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in replication fork processing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of subcortical maternal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: KH domain-containing protein 3

Names: ES cell-associated transcript 1 protein; KHDC3-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.