Seroatlas · Human Serome Atlas

DCDC2

Doublecortin domain-containing protein 2

Also known as: DCDC2_HUMAN, DCDC2A, DFNB66, KIAA1154, NPHP19, RU2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UHG0
Gene
DCDC2
Ensembl
ENSG00000146038
Chromosome
6
Canonical length
476 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Microtubules,Mitotic spindle,Centriolar satellite,Cytosol,Acrosome,Equatorial segment,Principal piece

OverviewNCBI Gene

This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

476 residues, UniProt reviewed canonical sequence.

>Q9UHG0|DCDC2
     1  MSGSSARSSH LSQPVVKSVL VYRNGDPFYA GRRVVIHEKK VSSFEVFLKE VTGGVQAPFG
    61  AVRNIYTPRT GHRIRKLDQI QSGGNYVAGG QEAFKKLNYL DIGEIKKRPM EVVNTEVKPV
   121  IHSRINVSAR FRKPLQEPCT IFLIANGDLI NPASRLLIPR KTLNQWDHVL QMVTEKITLR
   181  SGAVHRLYTL EGKLVESGAE LENGQFYVAV GRDKFKKLPY SELLFDKSTM RRPFGQKASS
   241  LPPIVGSRKS KGSGNDRHSK STVGSSDNSS PQPLKRKGKK EDVNSEKLTK LKQNVKLKNS
   301  QETIPNSDEG IFKAGAERSE TRGAAEVQED EDTQVEVPVD QRPAEIVDEE EDGEKANKDA
   361  EQKEDFSGMN GDLEEEGGRE ATDAPEQVEE ILDHSEQQAR PARVNGGTDE ENGEELQQVN
   421  NELQLVLDKE RKSQGAGSGQ DEADVDPQRP PRPEVKITSP EENENNQQNK DYAAVA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DCDC2 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)
0.56
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 25 nTPM
  • kidney: 20 nTPM
  • choroid plexus: 20 nTPM
  • parathyroid gland: 7.7 nTPM
  • thyroid gland: 7.7 nTPM
  • fallopian tube: 7.2 nTPM

Single-cell type

  • renal connecting tubule cells: 1,441 nCPM
  • distal convoluted tubule cells: 1,047 nCPM
  • endometrial ciliated cells: 821 nCPM
  • epididymal efferent duct absorptive cells: 796 nCPM
  • epididymal efferent duct ciliated cells: 781 nCPM
  • endometrial glandular cells: 606 nCPM

Immune cell

  • basophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 33 nTPM
  • midbrain: 7.1 nTPM
  • medulla oblongata: 5.8 nTPM
  • spinal cord: 5.4 nTPM
  • white matter: 4.6 nTPM
  • pons: 3.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DCDC2.

Disease | AllUniProt

Conditions DCDC2 is implicated in, by any mechanism.

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 388 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Isolated neonatal sclerosing cholangitis
  • Autosomal recessive nonsyndromic hearing loss 66
  • Nephronophthisis 19
  • DCDC2-related disorder
  • Nonsyndromic Deafness

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)
1.16
gnomAD pLI
0
gnomAD missense Z
0.43
DepMap mean gene effect
-0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DCDC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DCDC2 as an antibody target. Whether an autoantibody or antibody against DCDC2 could matter depends on whether native DCDC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DCDC2 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 DCDC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DCDC2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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