Khdc3 MGI Mouse Gene Detail - MGI:1914241 - KH domain containing 3, subcortical maternal complex member

Symbol

Khdc3
Name

KH domain containing 3, subcortical maternal complex member
Synonyms

2410004A20Rik, ecat1, FILIA

Feature Type

protein coding gene
IDs

MGI:1914241
NCBI Gene: 66991
Alliance

gene page

Sequence Map

Chr9:73009118-73011720 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 40.08 cM
Mapping Data

2 experiments

SNPs within 2kb

139 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914241	protein coding gene	Chr9:73008660-73013915 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035026	protein coding gene	Chr9:73319955-73322557 (+)
A/J	MGP_AJ_G0035007	protein coding gene	Chr9:70747683-70750285 (+)
AKR/J	MGP_AKRJ_G0034936	protein coding gene	Chr9:72446264-72448866 (+)
BALB/cJ	MGP_BALBcJ_G0034999	protein coding gene	Chr9:70454412-70457014 (+)
C3H/HeJ	MGP_C3HHeJ_G0034708	protein coding gene	Chr9:72941968-72944570 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035518	protein coding gene	Chr9:75236201-75238803 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032429	protein coding gene	Chr9:70215385-70218206 (+)
CAST/EiJ	MGP_CASTEiJ_G0034030	protein coding gene	Chr9:73280367-73283010 (+)
CBA/J	MGP_CBAJ_G0034681	protein coding gene	Chr9:77844610-77847212 (+)
DBA/2J	MGP_DBA2J_G0034840	protein coding gene	Chr9:70466441-70469043 (+)
FVB/NJ	MGP_FVBNJ_G0034782	protein coding gene	Chr9:69776715-69779317 (+)
LP/J	MGP_LPJ_G0034921	protein coding gene	Chr9:73535644-73538246 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034823	protein coding gene	Chr9:78941037-78943639 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035540	protein coding gene	Chr9:72606577-72609179 (+)
PWK/PhJ	MGP_PWKPhJ_G0033734	protein coding gene	Chr9:70744454-70747146 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033567	protein coding gene	Chr9:72881917-72884624 (+)
WSB/EiJ	MGP_WSBEiJ_G0034142	protein coding gene	Chr9:72534957-72537559 (+)

Human Ortholog

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

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KHDC3L, KH domain containing 3 like, subcortical maternal complex member
Synonyms

C6orf221, ECAT1, HYDM2
Links

HGNC:33699

NCBI Gene ID: 154288

neXtProt AC: NX_Q587J8

UniProt: Q587J8
Chr Location

6q13; chr6:73362658-73364171 (+) GRCh38

MGI Vertebrate Homology

Khdc3 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: KHDC3L
Gene Tree

Khdc3

Diseases

1 with human KHDC3L associations

				Human Disease	Mouse Models
				gestational trophoblastic neoplasm IDs gestational trophoblastic neoplasm DOID:3590 DOID:14071 DOID:3598 ICD10CM:O01 ICD9CM:630 MESH:D006828 MESH:D031901 NCI:C3110 NCI:C4699 NCI:C7887 OMIM:231090 UMLS_CUI:C0020217 UMLS_CUI:C0278796 UMLS_CUI:C1135868

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
4 images
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Chemically induced (other)

1
Targeted

3
Genomic Mutations

1 involving Khdc3
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display a maternal effect defect in embryogenesis with delayed embryonic development and spindle abnormalities resulting in decreased litter sizes for homozygous females.

less

All GO Annotations

40
GO References

15

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

823
Tissues

32
cDNA Data

7
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

less

All Sequences

50
RefSeq

8
UniProt

2
CCDS

CCDS23336.1, CCDS81036.1

Ensembl

ENSMUSG00000092622 (Evidence)
NCBI Gene

66991

			Length	Strain/Species	Flank
genomic	ENSMUSG00000092622	Ensembl Gene Model \| MGI Sequence Detail	2603	C57BL/6J	± kb
transcript	ENSMUST00000034737	Ensembl \| MGI Sequence Detail	1681	Not Applicable
polypeptide	ENSMUSP00000034737	Ensembl \| MGI Sequence Detail	440	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000033493 KH domain-containing protein 3

(term hierarchy)
PDB

3V69
InterPro Domains

IPR051778 KH Domain-Containing Protein 1

IPR031952 KH-like RNA-binding domain

IPR036612 K Homology domain, type 1 superfamily

less

All nucleic 15

cDNA 8

Primer pair 4

Other 3

Microarray probesets 3

less

MGI:2143072

Summaries

All 46

Developmental Gene Expression 13

Gene Ontology 15

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:341543 Meng TG, et al., NLRP14 Safeguards Calcium Homeostasis via Regulating the K27 Ubiquitination of Nclx in Oocyte-to-Embryo Transition. Adv Sci (Weinh). 2023 Sep;10(27):e2301940

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24