Details for: DCDC2

Gene ID: 51473

Symbol: DCDC2

Ensembl ID: ENSG00000146038

Description: doublecortin domain containing 2

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: mucosal type mast cell (CL0000485)
    Fold Change: 32.7379
    Cell Significance Index: -13.3000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 13.8781
    Cell Significance Index: -13.2500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 8.8649
    Cell Significance Index: 70.7800
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 4.8932
    Cell Significance Index: 56.8800
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 4.7262
    Cell Significance Index: 17.8000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 3.5055
    Cell Significance Index: 695.6700
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 2.5024
    Cell Significance Index: 15.4000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.3930
    Cell Significance Index: 51.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.8934
    Cell Significance Index: 275.2300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.5149
    Cell Significance Index: 288.2900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.3428
    Cell Significance Index: 733.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.9176
    Cell Significance Index: 21.2000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.9045
    Cell Significance Index: 21.9100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7509
    Cell Significance Index: 6.9200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7473
    Cell Significance Index: 73.9300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.7416
    Cell Significance Index: 15.8000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6636
    Cell Significance Index: 34.4700
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.6191
    Cell Significance Index: 3.7100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5796
    Cell Significance Index: 523.3100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.4537
    Cell Significance Index: 4.8200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4345
    Cell Significance Index: 47.2600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4156
    Cell Significance Index: 67.5900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4043
    Cell Significance Index: 8.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.3835
    Cell Significance Index: 43.9400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3015
    Cell Significance Index: 22.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2840
    Cell Significance Index: 56.9700
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.2213
    Cell Significance Index: 1.8300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.2152
    Cell Significance Index: 24.5600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2148
    Cell Significance Index: 14.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2048
    Cell Significance Index: 36.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1696
    Cell Significance Index: 19.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1569
    Cell Significance Index: 56.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1481
    Cell Significance Index: 102.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1423
    Cell Significance Index: 262.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1243
    Cell Significance Index: 78.9700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1186
    Cell Significance Index: 223.3200
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1009
    Cell Significance Index: 0.6800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0986
    Cell Significance Index: 4.4700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0736
    Cell Significance Index: 1.8400
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.0620
    Cell Significance Index: 0.8600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0509
    Cell Significance Index: 8.7000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0411
    Cell Significance Index: 1.8200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0409
    Cell Significance Index: 29.9700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0322
    Cell Significance Index: 1.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0259
    Cell Significance Index: 39.8800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0228
    Cell Significance Index: 0.8000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0125
    Cell Significance Index: 0.7000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0043
    Cell Significance Index: 0.1300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0008
    Cell Significance Index: 0.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0001
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0030
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0038
    Cell Significance Index: -2.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0065
    Cell Significance Index: -4.9200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0075
    Cell Significance Index: -4.2300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0101
    Cell Significance Index: -4.5800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0249
    Cell Significance Index: -7.1800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0251
    Cell Significance Index: -0.5500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0326
    Cell Significance Index: -0.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0340
    Cell Significance Index: -7.1600
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.0365
    Cell Significance Index: -0.2300
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0366
    Cell Significance Index: -0.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0415
    Cell Significance Index: -5.7000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0478
    Cell Significance Index: -2.9300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0487
    Cell Significance Index: -1.0100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0734
    Cell Significance Index: -1.9300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0782
    Cell Significance Index: -1.1200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0790
    Cell Significance Index: -1.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0841
    Cell Significance Index: -10.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0861
    Cell Significance Index: -8.7900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0861
    Cell Significance Index: -8.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0865
    Cell Significance Index: -6.8500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0990
    Cell Significance Index: -6.6600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0996
    Cell Significance Index: -3.1900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1193
    Cell Significance Index: -1.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1358
    Cell Significance Index: -10.4200
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.1481
    Cell Significance Index: -1.3500
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.1609
    Cell Significance Index: -1.4500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1663
    Cell Significance Index: -2.8500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1708
    Cell Significance Index: -10.5000
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.1710
    Cell Significance Index: -1.8100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1721
    Cell Significance Index: -4.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1866
    Cell Significance Index: -8.7000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1874
    Cell Significance Index: -9.8400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1931
    Cell Significance Index: -6.1500
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: -0.1946
    Cell Significance Index: -0.7400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2049
    Cell Significance Index: -1.9500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2180
    Cell Significance Index: -6.4200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2219
    Cell Significance Index: -10.4300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2238
    Cell Significance Index: -7.3300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2252
    Cell Significance Index: -7.8900
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.2292
    Cell Significance Index: -1.2000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2313
    Cell Significance Index: -12.0500
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: -0.2365
    Cell Significance Index: -2.5500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2393
    Cell Significance Index: -4.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2412
    Cell Significance Index: -6.2000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2616
    Cell Significance Index: -9.0900
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.2640
    Cell Significance Index: -3.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2775
    Cell Significance Index: -7.4100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2839
    Cell Significance Index: -3.2300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2870
    Cell Significance Index: -7.1600

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:** DCDC2 is a protein that belongs to the doublecortin domain-containing family of proteins. The gene is characterized by its involvement in multiple cellular pathways, including axoneme assembly, cilium formation, and regulation of Wnt signaling pathway. The protein's expression is highly specific, with significant presence in various cell types, including those found in the nervous system, epithelial tissues, and immune cells. **Pathways and Functions:** DCDC2 is intricately involved in several cellular processes, including: 1. **Axoneme Assembly:** DCDC2 plays a crucial role in the assembly of axonemes, the structural components of cilia and flagella. This process is essential for maintaining ciliary function and sensory perception. 2. **Cilium Assembly:** The protein is also involved in the regulation of cilium assembly, a process critical for maintaining cellular homeostasis and tissue function. 3. **Regulation of Wnt Signaling Pathway:** DCDC2 has been shown to positively regulate the Wnt signaling pathway, a key pathway involved in cell proliferation, differentiation, and survival. 4. **Intracellular Signal Transduction:** The protein is also involved in various intracellular signal transduction pathways, including those involved in sensory perception and cellular homeostasis. **Clinical Significance:** The DCDC2 gene has been implicated in several human diseases, including: 1. **Neurological Disorders:** DCDC2 mutations have been associated with neurological disorders, such as autism spectrum disorder and other neurodevelopmental disorders. 2. **Ciliary Dyskinesia:** The protein's role in cilium assembly and function makes it a potential therapeutic target for ciliary dyskinesia, a disorder characterized by respiratory and auditory problems. 3. **Cancer:** DCDC2 has been shown to be overexpressed in various types of cancer, including breast, lung, and colon cancer, suggesting its potential as a diagnostic biomarker or therapeutic target. In conclusion, the DCDC2 gene is a multifaceted protein that plays a critical role in various cellular processes, including axoneme assembly, cilium formation, and regulation of Wnt signaling pathway. Its widespread expression in distinct cell types underscores its importance in maintaining cellular homeostasis and overall tissue function. Further research is needed to fully elucidate the molecular mechanisms underlying DCDC2's function and its implications in human disease.

Genular Protein ID: 2605540374

Symbol: DCDC2_HUMAN

Name: Doublecortin domain-containing protein 2

UniProtKB Accession Codes:

Q9UHG0 Q5VTR8 Q5VTR9 Q86W35 Q9UFD1 Q9UHG1 Q9ULR6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 9 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10601354

Title: A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription.

PubMed ID: 10601354

DOI: 10.1084/jem.190.12.1793

PubMed ID: 10574461

Title: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.

PubMed ID: 10574461

DOI: 10.1093/dnares/6.5.329

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 16278297

Title: DCDC2 is associated with reading disability and modulates neuronal development in the brain.

PubMed ID: 16278297

DOI: 10.1073/pnas.0508591102

PubMed ID: 25557784

Title: DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

PubMed ID: 25557784

DOI: 10.1016/j.ajhg.2014.12.002

PubMed ID: 25601850

Title: A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.

PubMed ID: 25601850

DOI: 10.1093/hmg/ddv009

PubMed ID: 27319779

Title: DCDC2 mutations cause neonatal sclerosing cholangitis.

PubMed ID: 27319779

DOI: 10.1002/humu.23031

PubMed ID: 27469900

Title: Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

PubMed ID: 27469900

DOI: 10.1016/j.jhep.2016.07.017

Sequence Information:

  • Length: 476
  • Mass: 52834
  • Checksum: 50DD06EA2FB9BD53
  • Sequence:
    • MSGSSARSSH LSQPVVKSVL VYRNGDPFYA GRRVVIHEKK VSSFEVFLKE VTGGVQAPFG 
AVRNIYTPRT GHRIRKLDQI QSGGNYVAGG QEAFKKLNYL DIGEIKKRPM EVVNTEVKPV 
IHSRINVSAR FRKPLQEPCT IFLIANGDLI NPASRLLIPR KTLNQWDHVL QMVTEKITLR 
SGAVHRLYTL EGKLVESGAE LENGQFYVAV GRDKFKKLPY SELLFDKSTM RRPFGQKASS 
LPPIVGSRKS KGSGNDRHSK STVGSSDNSS PQPLKRKGKK EDVNSEKLTK LKQNVKLKNS 
QETIPNSDEG IFKAGAERSE TRGAAEVQED EDTQVEVPVD QRPAEIVDEE EDGEKANKDA 
EQKEDFSGMN GDLEEEGGRE ATDAPEQVEE ILDHSEQQAR PARVNGGTDE ENGEELQQVN 
NELQLVLDKE RKSQGAGSGQ DEADVDPQRP PRPEVKITSP EENENNQQNK DYAAVA

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.