CDX2
Homeobox protein CDX-2
Also known as: CDX2_HUMAN, CDX3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99626
- Gene
- CDX2
- Ensembl
- ENSG00000165556
- Chromosome
- 13
- Canonical length
- 313 aa
- Protein class
- Cancer-related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]
Canonical amino-acid sequenceUniProt
313 residues, UniProt reviewed canonical sequence.
>Q99626|CDX2
1 MYVSYLLDKD VSMYPSSVRH SGGLNLAPQN FVSPPQYPDY GGYHVAAAAA AAANLDSAQS
61 PGPSWPAAYG APLREDWNGY APGGAAAAAN AVAHGLNGGS PAAAMGYSSP ADYHPHHHPH
121 HHPHHPAAAP SCASGLLQTL NPGPPGPAAT AAAEQLSPGG QRRNLCEWMR KPAQQSLGSQ
181 VKTRTKDKYR VVYTDHQRLE LEKEFHYSRY ITIRRKAELA ATLGLSERQV KIWFQNRRAK
241 ERKINKKKLQ QQQQQQPPQP PPPPPQPPQP QPGPLRSVPE PLSPVSSLQA SVPGSVPGVL
301 GPTGGVLNPT VTQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- colon: 45 nTPM
- small intestine: 34 nTPM
- rectum: 29 nTPM
- duodenum: 27 nTPM
- appendix: 4.7 nTPM
- pancreas: 2.7 nTPM
Single-cell type
- colonocytes: 285 nCPM
- enteric stem cells: 219 nCPM
- enterocytes: 217 nCPM
- goblet cells: 194 nCPM
- enteric transient amplifying cells: 193 nCPM
- paneth cells: 151 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 0.2 nTPM
- white matter: 0.2 nTPM
- amygdala: 0.1 nTPM
- basal ganglia: 0.1 nTPM
- cerebellum: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CDX2.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 50 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Sirenomelia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0.53
- gnomAD missense Z
- 1.06
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ morphogenesis
- anterior/posterior axis specification
- blood vessel development
- cell differentiation
- digestive tract development
- embryonic pattern specification
- endosome to lysosome transport
- establishment or maintenance of epithelial cell apical/basal polarity
- intestinal epithelial cell differentiation
- labyrinthine layer development
- negative regulation of transcription by RNA polymerase II
- positive regulation of cell differentiation
- positive regulation of cell population proliferation
- positive regulation of transcription by RNA polymerase II
- regulation of somitogenesis
- regulation of transcription by RNA polymerase II
- somatic stem cell population maintenance
- stem cell differentiation
- trophectodermal cell differentiation
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- methyl-CpG binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CDX2 as an antibody target. Whether an autoantibody or antibody against CDX2 could matter depends on whether native CDX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CDX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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