Details for: KHDC4

Gene ID: 22889

Symbol: KHDC4

Ensembl ID: ENSG00000132680

Description: KH domain containing 4, pre-mRNA splicing factor

Associated with

Cells (max top 100)

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

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 3.28
    Marker Score: 43,645
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 2.05
    Marker Score: 993
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.91
    Marker Score: 1,119
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.45
    Marker Score: 1,529
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.43
    Marker Score: 14,448
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.35
    Marker Score: 1,489
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.34
    Marker Score: 2,946
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 1.33
    Marker Score: 1,445
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.31
    Marker Score: 5,485
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.3
    Marker Score: 758
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.25
    Marker Score: 1,119
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.25
    Marker Score: 395
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.23
    Marker Score: 11,722
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.22
    Marker Score: 74,995
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.22
    Marker Score: 4,321
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.21
    Marker Score: 806
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.2
    Marker Score: 1,852
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.2
    Marker Score: 10,274
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.18
    Marker Score: 1,088
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.17
    Marker Score: 1,249
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.17
    Marker Score: 936
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.17
    Marker Score: 2,037
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.12
    Marker Score: 1,207
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.12
    Marker Score: 24,989
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.12
    Marker Score: 16,673
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.11
    Marker Score: 1,642
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.11
    Marker Score: 1,389
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.11
    Marker Score: 942
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.11
    Marker Score: 10,400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.1
    Marker Score: 347
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.09
    Marker Score: 11,300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.08
    Marker Score: 39,678
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.07
    Marker Score: 531
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.06
    Marker Score: 838
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.06
    Marker Score: 1,201
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.06
    Marker Score: 4,388
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.06
    Marker Score: 1,280
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.05
    Marker Score: 39,941
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.03
    Marker Score: 3,981
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.02
    Marker Score: 535
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.02
    Marker Score: 572
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.01
    Marker Score: 500
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1
    Marker Score: 7,674
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1
    Marker Score: 288
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,640
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,864
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.99
    Marker Score: 3,828
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.98
    Marker Score: 19,558
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,384
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.97
    Marker Score: 543
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.96
    Marker Score: 4,728
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.95
    Marker Score: 236
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.95
    Marker Score: 961
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.94
    Marker Score: 2,306
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,387
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.94
    Marker Score: 3,476
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.94
    Marker Score: 565
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.92
    Marker Score: 920
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.92
    Marker Score: 326
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.92
    Marker Score: 1,772
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.92
    Marker Score: 1,237
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.92
    Marker Score: 925
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 473
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.92
    Marker Score: 2,493
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 431
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.91
    Marker Score: 19,429
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.91
    Marker Score: 265
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,170
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.9
    Marker Score: 1,879
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,684
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.89
    Marker Score: 608
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 0.88
    Marker Score: 870
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.88
    Marker Score: 598
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.88
    Marker Score: 1,014
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.87
    Marker Score: 607
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,293
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.87
    Marker Score: 1,083
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.86
    Marker Score: 273
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.86
    Marker Score: 891
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.85
    Marker Score: 358
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.85
    Marker Score: 187
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.85
    Marker Score: 29,036
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.85
    Marker Score: 569
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.85
    Marker Score: 1,503
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.85
    Marker Score: 294
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.85
    Marker Score: 1,438
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.84
    Marker Score: 564
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.84
    Marker Score: 7,301
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.84
    Marker Score: 289
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.84
    Marker Score: 1,160
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.83
    Marker Score: 240
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.83
    Marker Score: 248
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.83
    Marker Score: 554
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.83
    Marker Score: 198
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.82
    Marker Score: 280
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.82
    Marker Score: 559
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.82
    Marker Score: 436
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.81
    Marker Score: 473
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.81
    Marker Score: 300

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** 1. **KH Domain Structure:** KHDC4 possesses a characteristic KH domain, a conserved RNA-binding motif that allows for specific interactions with RNA molecules. 2. **Pre-mRNA Splicing Factor:** KHDC4 is a pre-mRNA splicing factor, responsible for recognizing and binding to splice sites, thereby regulating the splicing process. 3. **Nucleoplasmic Localization:** KHDC4 localizes to the nucleoplasm, where it interacts with other components of the spliceosomal complex. 4. **High Expression Levels:** KHDC4 is significantly expressed in various cell types, including cardiac muscle cells, immune cells, and epithelial tissues. **Pathways and Functions:** 1. **Spliceosomal Complex:** KHDC4 interacts with other components of the spliceosomal complex, facilitating the recognition and binding of splice sites. 2. **RNA Splicing:** KHDC4 regulates the inclusion or exclusion of specific exons in the mature RNA product, influencing the final structure and function of the RNA molecule. 3. **Alternative Splicing:** KHDC4 is involved in alternative splicing, a process that allows for the generation of diverse RNA isoforms from a single gene. 4. **Cellular Regulation:** KHDC4 plays a role in regulating cellular processes, including cell growth, differentiation, and survival. **Clinical Significance:** Dysregulation of KHDC4 has been implicated in various diseases, including: 1. **Cardiovascular Disorders:** Alterations in KHDC4 expression have been linked to cardiovascular diseases, such as heart failure and arrhythmias. 2. **Immune System Dysregulation:** KHDC4 has been shown to play a role in immune system function, and its dysregulation may contribute to autoimmune diseases, such as rheumatoid arthritis. 3. **Cancer:** KHDC4 has been implicated in cancer development and progression, with altered expression levels observed in various types of cancer. 4. **Neurological Disorders:** KHDC4 may also play a role in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, KHDC4 is a critical pre-mRNA splicing factor that regulates the splicing process and has far-reaching implications for cellular function and disease. Further research is necessary to fully elucidate the molecular mechanisms underlying KHDC4 function and its role in human disease.

Genular Protein ID: 2885343459

Symbol: KHDC4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q7Z7F0 O94981 Q7L7Q2 Q7Z7E9 Q8TBQ0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 3 EvolutionaryTrace 1 GO 5 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 RefSeq 1 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 19641227

Title: Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K homology domain protein involved in pre-mRNA splicing that interacts with SNEVPrp19-Pso4.

PubMed ID: 19641227

DOI: 10.1074/jbc.m109.036632

PubMed ID: 10048485

Title: Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10048485

DOI: 10.1093/dnares/5.6.355

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23144703

Title: Inhibition of pre-mRNA splicing by a synthetic Blom7alpha-interacting small RNA.

PubMed ID: 23144703

DOI: 10.1371/journal.pone.0047497

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 614
  • Mass: 64845
  • Checksum: 61968993DA061561
  • Sequence:
    • MSAGSATHPG AGGRRSKWDQ PAPAPLLFLP PAAPGGEVTS SGGSPGGTTA APSGALDAAA 
AVAAKINAML MAKGKLKPTQ NASEKLQAPG KGLTSNKSKD DLVVAEVEIN DVPLTCRNLL 
TRGQTQDEIS RLSGAAVSTR GRFMTTEEKA KVGPGDRPLY LHVQGQTREL VDRAVNRIKE 
IITNGVVKAA TGTSPTFNGA TVTVYHQPAP IAQLSPAVSQ KPPFQSGMHY VQDKLFVGLE 
HAVPTFNVKE KVEGPGCSYL QHIQIETGAK VFLRGKGSGC IEPASGREAF EPMYIYISHP 
KPEGLAAAKK LCENLLQTVH AEYSRFVNQI NTAVPLPGYT QPSAISSVPP QPPYYPSNGY 
QSGYPVVPPP QQPVQPPYGV PSIVPPAVSL APGVLPALPT GVPPVPTQYP ITQVQPPAST 
GQSPMGGPFI PAAPVKTALP AGPQPQPQPQ PPLPSQPQAQ KRRFTEELPD ERESGLLGYQ 
HGPIHMTNLG TGFSSQNEIE GAGSKPASSS GKERERDRQL MPPPAFPVTG IKTESDERNG 
SGTLTGSHDY PAKKMKTTEK GFGLVAYAAD SSDEEEEHGG HKNASSFPQG WSLGYQYPSS 
QPRAKQQMPF WMAP

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.