Seroatlas · Human Serome Atlas

DYNC2I2

Cytoplasmic dynein 2 intermediate chain 2

Also known as: bA216B9.3, CFAP133, DC2I2_HUMAN, DIC5, FAP133, MGC20486, WDR34

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

Protein identityUniProt · HPA

UniProt accession
Q96EX3
Gene
DYNC2I2
Ensembl
ENSG00000119333
Chromosome
9
Canonical length
536 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Nuclear bodies,Primary cilium,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]

Canonical amino-acid sequenceUniProt

536 residues, UniProt reviewed canonical sequence.

>Q96EX3|DYNC2I2
     1  MATRAQPGPL SQAGSAGVAA LATVGVASGP GPGRPGPLQD ETLGVASVPS QWRAVQGIRW
    61  ETKSCQTASI ATASASAQAR NHVDAQVQTE APVPVSVQPP SQYDIPRLAA FLRRVEAMVI
   121  RELNKNWQSH AFDGFEVNWT EQQQMVSCLY TLGYPPAQAQ GLHVTSISWN STGSVVACAY
   181  GRLDHGDWST LKSFVCAWNL DRRDLRPQQP SAVVEVPSAV LCLAFHPTQP SHVAGGLYSG
   241  EVLVWDLSRL EDPLLWRTGL TDDTHTDPVS QVVWLPEPGH SHRFQVLSVA TDGKVLLWQG
   301  IGVGQLQLTE GFALVMQQLP RSTKLKKHPR GETEVGATAV AFSSFDPRLF ILGTEGGFPL
   361  KCSLAAGEAA LTRMPSSVPL RAPAQFTFSP HGGPIYSVSC SPFHRNLFLS AGTDGHVHLY
   421  SMLQAPPLTS LQLSLKYLFA VRWSPVRPLV FAAASGKGDV QLFDLQKSSQ KPTVLIKQTQ
   481  DESPVYCLEF NSQQTQLLAA GDAQGTVKVW QLSTEFTEQG PREAEDLDCL AAEVAA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DYNC2I2 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)
0.35
Highest tissue expression
67 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 67 nTPM
  • testis: 65 nTPM
  • choroid plexus: 57 nTPM
  • thyroid gland: 52 nTPM
  • adrenal gland: 47 nTPM
  • heart muscle: 38 nTPM

Single-cell type

  • late spermatids: 368 nCPM
  • respiratory ciliated cells: 196 nCPM
  • differentiating spermatogonia: 166 nCPM
  • oocytes: 166 nCPM
  • late primary spermatocytes: 156 nCPM
  • fallopian tube ciliated cells: 156 nCPM

Immune cell

  • naive B-cell: 53 nTPM
  • memory B-cell: 36 nTPM
  • plasmacytoid DC: 11 nTPM
  • non-classical monocyte: 5.7 nTPM
  • T-reg: 5.7 nTPM
  • NK-cell: 4.5 nTPM

Brain region

  • choroid plexus: 45 nTPM
  • midbrain: 22 nTPM
  • hypothalamus: 20 nTPM
  • medulla oblongata: 17 nTPM
  • thalamus: 16 nTPM
  • spinal cord: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DYNC2I2.

Disease | AllUniProt

Conditions DYNC2I2 is implicated in, by any mechanism.

  • Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) MIM:615633

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 587 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.99
gnomAD pLI
0
DepMap mean gene effect
-0.07
DepMap dependency class
selective

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 DYNC2I2 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 DYNC2I2 as an antibody target. Whether an autoantibody or antibody against DYNC2I2 could matter depends on whether native DYNC2I2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DYNC2I2 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 DYNC2I2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DYNC2I2. 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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