Details for: KHDC3L

Gene ID: 154288

Symbol: KHDC3L

Ensembl ID: ENSG00000203908

Description: KH domain containing 3 like, subcortical maternal complex member

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 4.8783
    Cell Significance Index: 30.1200
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.5581
    Cell Significance Index: 19.3200
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.4256
    Cell Significance Index: 5.0300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.3929
    Cell Significance Index: 5.7100
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.1605
    Cell Significance Index: 2.0100
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.1007
    Cell Significance Index: 1.1900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0936
    Cell Significance Index: 2.0500
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.0877
    Cell Significance Index: 1.0900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0840
    Cell Significance Index: 1.2400
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0604
    Cell Significance Index: 0.7400
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.0596
    Cell Significance Index: 0.3500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0489
    Cell Significance Index: 2.5700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0473
    Cell Significance Index: 0.7500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0293
    Cell Significance Index: 0.7900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0285
    Cell Significance Index: 0.6100
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.0275
    Cell Significance Index: 0.4500
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.0274
    Cell Significance Index: 0.3800
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.0042
    Cell Significance Index: 0.0400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0009
    Cell Significance Index: 0.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0003
    Cell Significance Index: -0.4800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0004
    Cell Significance Index: -0.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0004
    Cell Significance Index: -0.3200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0005
    Cell Significance Index: -0.7700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0006
    Cell Significance Index: -0.8400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0009
    Cell Significance Index: -0.3100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0018
    Cell Significance Index: -1.1500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0019
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0021
    Cell Significance Index: -0.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0022
    Cell Significance Index: -0.6200
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0029
    Cell Significance Index: -0.0300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0032
    Cell Significance Index: -0.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0034
    Cell Significance Index: -0.3900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0041
    Cell Significance Index: -0.4800
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.0059
    Cell Significance Index: -0.0700
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.0077
    Cell Significance Index: -0.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0081
    Cell Significance Index: -1.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0088
    Cell Significance Index: -0.2400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0092
    Cell Significance Index: -0.4300
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0107
    Cell Significance Index: -0.1100
  • Cell Name: macrophage (CL0000235)
    Fold Change: -0.0127
    Cell Significance Index: -0.1300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0130
    Cell Significance Index: -0.3700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0133
    Cell Significance Index: -0.3500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0138
    Cell Significance Index: -0.8500
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0141
    Cell Significance Index: -0.1400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0146
    Cell Significance Index: -0.8200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0156
    Cell Significance Index: -0.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0185
    Cell Significance Index: -0.8700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0191
    Cell Significance Index: -0.4000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0194
    Cell Significance Index: -0.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0194
    Cell Significance Index: -0.8600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0197
    Cell Significance Index: -0.2800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0198
    Cell Significance Index: -0.2700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0202
    Cell Significance Index: -0.6600
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.0212
    Cell Significance Index: -0.2500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0219
    Cell Significance Index: -0.8300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0225
    Cell Significance Index: -0.3000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0227
    Cell Significance Index: -1.1800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0239
    Cell Significance Index: -0.7600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0243
    Cell Significance Index: -0.7700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0248
    Cell Significance Index: -0.6700
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0248
    Cell Significance Index: -0.3400
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: -0.0284
    Cell Significance Index: -0.3300
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: -0.0285
    Cell Significance Index: -0.3600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0293
    Cell Significance Index: -0.8400
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0294
    Cell Significance Index: -0.4000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0303
    Cell Significance Index: -0.7600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0310
    Cell Significance Index: -0.6700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0313
    Cell Significance Index: -0.4800
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.0319
    Cell Significance Index: -0.4200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0328
    Cell Significance Index: -1.1400
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0335
    Cell Significance Index: -0.4400
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: -0.0338
    Cell Significance Index: -0.3500
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.0353
    Cell Significance Index: -0.4100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0354
    Cell Significance Index: -0.7100
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.0365
    Cell Significance Index: -0.4200
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.0367
    Cell Significance Index: -0.3600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0368
    Cell Significance Index: -0.4000
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.0372
    Cell Significance Index: -0.4000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0376
    Cell Significance Index: -0.9600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0379
    Cell Significance Index: -0.7500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0381
    Cell Significance Index: -0.5500
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: -0.0384
    Cell Significance Index: -0.3900
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: -0.0385
    Cell Significance Index: -0.3600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0387
    Cell Significance Index: -1.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0389
    Cell Significance Index: -1.0400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0390
    Cell Significance Index: -0.3700
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0391
    Cell Significance Index: -0.4200
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.0393
    Cell Significance Index: -0.5400
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.0394
    Cell Significance Index: -0.4100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0397
    Cell Significance Index: -0.6500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0398
    Cell Significance Index: -0.8300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0403
    Cell Significance Index: -0.5000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0404
    Cell Significance Index: -0.4400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0407
    Cell Significance Index: -0.9800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0410
    Cell Significance Index: -0.8700
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.0410
    Cell Significance Index: -0.6600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0412
    Cell Significance Index: -0.6000
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0422
    Cell Significance Index: -0.8300
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: -0.0422
    Cell Significance Index: -0.4900
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.0426
    Cell Significance Index: -0.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The KHDC3L gene exhibits several distinct characteristics that highlight its importance in cellular function: 1. **KH domain**: The gene contains a KH domain, a characteristic structural motif found in various RNA-binding proteins. This domain is crucial for the protein's ability to interact with RNA molecules. 2. **Subcortical maternal complex membership**: KHDC3L is a member of the SMC, a complex involved in regulating cellular processes such as actin filament organization, cell cortex dynamics, and organelle localization. 3. **Significant expression in multiple cell types**: The gene is expressed in various cell types, including blood vessel endothelial cells, conventional dendritic cells, monocytes, goblet cells, and primordial germ cells. 4. **Involvement in cellular processes**: KHDC3L is implicated in several cellular processes, including the regulation of actin filament organization, cell cortex dynamics, and the establishment of organelle localization. **Pathways and Functions** The KHDC3L gene is involved in several key cellular pathways: 1. **Actin filament organization**: KHDC3L regulates actin filament dynamics, which is essential for maintaining cellular shape and structure. 2. **Cell cortex organization**: The gene is involved in regulating the organization of the cell cortex, which is critical for cell migration, division, and morphogenesis. 3. **Establishment of organelle localization**: KHDC3L plays a role in regulating the localization of organelles, including the nucleus, mitochondria, and centrosomes. 4. **Negative regulation of apoptotic process**: The gene is involved in regulating the apoptotic process, which is essential for maintaining cellular homeostasis. 5. **Positive regulation of dendrite development**: KHDC3L regulates dendrite development, which is critical for neuronal function and synaptic plasticity. 6. **Positive regulation of double-strand break repair**: The gene is involved in regulating the repair of double-strand breaks in DNA, which is essential for maintaining genome stability. **Clinical Significance** The KHDC3L gene has significant implications for various diseases and disorders, including: 1. **Cancer development**: The gene's involvement in regulating cellular processes such as apoptosis and DNA repair makes it a potential target for cancer therapy. 2. **Neurological disorders**: KHDC3L's role in regulating dendrite development and neuronal function makes it a potential target for treating neurological disorders such as Alzheimer's disease and Parkinson's disease. 3. **Immune system disorders**: The gene's involvement in regulating the expression of immune cells such as dendritic cells and monocytes makes it a potential target for treating immune system disorders. 4. **Developmental disorders**: KHDC3L's role in regulating embryonic development and cell cortex organization makes it a potential target for treating developmental disorders such as Down syndrome. In conclusion, the KHDC3L gene is a critical component of the subcortical maternal complex, involved in regulating various cellular processes such as actin filament organization, cell cortex dynamics, and organelle localization. Its significant expression in multiple cell types and its involvement in cellular processes make it a potential target for various diseases and disorders.

Genular Protein ID: 1972035203

Symbol: KHDC3_HUMAN

Name: KH domain-containing protein 3

UniProtKB Accession Codes:

Q587J8 B2RNW7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 GO 19 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 12787504

Title: The homeoprotein Nanog is required for maintenance of pluripotency in mouse epiblast and ES cells.

PubMed ID: 12787504

DOI: 10.1016/s0092-8674(03)00393-3

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17913455

Title: Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.

PubMed ID: 17913455

DOI: 10.1016/j.ygeno.2007.06.003

PubMed ID: 21885028

Title: Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

PubMed ID: 21885028

DOI: 10.1016/j.ajhg.2011.08.002

PubMed ID: 26537248

Title: TLE6 mutation causes the earliest known human embryonic lethality.

PubMed ID: 26537248

DOI: 10.1186/s13059-015-0792-0

PubMed ID: 25542835

Title: Identification of a human subcortical maternal complex.

PubMed ID: 25542835

DOI: 10.1093/molehr/gau116

PubMed ID: 31609975

Title: KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells.

PubMed ID: 31609975

DOI: 10.1371/journal.pbio.3000468

PubMed ID: 23963444

Title: NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.

PubMed ID: 23963444

DOI: 10.1093/molehr/gat056

Sequence Information:

  • Length: 217
  • Mass: 24306
  • Checksum: C36BC89949DB8606
  • Sequence:
    • MDAPRRFPTL VQLMQPKAMP VEVLGHLPKR FSWFHSEFLK NPKVVRLEVW LVEKIFGRGG 
ERIPHVQGMS QILIHVNRLD PNGEAEILVF GRPSYQEDTI KMIMNLADYH RQLQAKGSGK 
ALAQDVATQK AETQRSSIEV REAGTQRSVE VREAGTQRSV EVQEVGTQGS PVEVQEAGTQ 
QSLQAANKSG TQRSPEAASK AVTQRFREDA RDPVTRL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.