Seroatlas · Human Serome Atlas

DYNC2LI1

Cytoplasmic dynein 2 light intermediate chain 1

Also known as: CGI-60, D2LIC, DC2L1_HUMAN, DKFZP564A033, LIC3

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

Protein identityUniProt · HPA

UniProt accession
Q8TCX1
Gene
DYNC2LI1
Ensembl
ENSG00000138036
Chromosome
2
Canonical length
351 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Primary cilium,Basal body,Cytosol,Equatorial segment,Perinuclear theca,Mid piece,Principal piece,Annulus
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

351 residues, UniProt reviewed canonical sequence.

>Q8TCX1|DYNC2LI1
     1  MPSETLWEIA KAEVEKRGIN GSEGDGAEIA EKFVFFIGSK NGGKTTIILR CLDRDEPPKP
    61  TLALEYTYGR RAKGHNTPKD IAHFWELGGG TSLLDLISIP ITGDTLRTFS LVLVLDLSKP
   121  NDLWPTMENL LQATKSHVDK VIMKLGKTNA KAVSEMRQKI WNNMPKDHPD HELIDPFPVP
   181  LVIIGSKYDV FQDFESEKRK VICKTLRFVA HYYGASLMFT SKSEALLLKI RGVINQLAFG
   241  IDKSKSICVD QNKPLFITAG LDSFGQIGSP PVPENDIGKL HAHSPMELWK KVYEKLFPPK
   301  SINTLKDIKD PARDPQYAEN EVDEMRIQKD LELEQYKRSS SKSWKQIELD S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DYNC2LI1 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)
0.32
Highest tissue expression
62 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 62 nTPM
  • fallopian tube: 50 nTPM
  • kidney: 47 nTPM
  • epididymis: 44 nTPM
  • testis: 42 nTPM
  • retina: 41 nTPM

Single-cell type

  • late primary spermatocytes: 331 nCPM
  • respiratory ciliated cells: 225 nCPM
  • ependymal cells: 203 nCPM
  • decidual stromal cells: 192 nCPM
  • fallopian tube ciliated cells: 186 nCPM
  • choroid plexus epithelial cells: 152 nCPM

Immune cell

  • basophil: 15 nTPM
  • intermediate monocyte: 3.9 nTPM
  • memory B-cell: 3.7 nTPM
  • myeloid DC: 3.1 nTPM
  • non-classical monocyte: 3.1 nTPM
  • naive CD4 T-cell: 2.7 nTPM

Brain region

  • choroid plexus: 57 nTPM
  • hypothalamus: 29 nTPM
  • basal ganglia: 27 nTPM
  • medulla oblongata: 26 nTPM
  • cerebral cortex: 25 nTPM
  • white matter: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DYNC2LI1.

Disease | AllUniProt

Conditions DYNC2LI1 is implicated in, by any mechanism.

  • Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) MIM:617088

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 252 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)
1.13
gnomAD pLI
0
gnomAD missense Z
-0.33
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 DYNC2LI1 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 DYNC2LI1 as an antibody target. Whether an autoantibody or antibody against DYNC2LI1 could matter depends on whether native DYNC2LI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DYNC2LI1 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 DYNC2LI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DYNC2LI1. 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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