DYNC1I2
Cytoplasmic dynein 1 intermediate chain 2
Also known as: DC1I2_HUMAN, DIC74, DNCI2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13409
- Gene
- DYNC1I2
- Ensembl
- ENSG00000077380
- Chromosome
- 2
- Canonical length
- 638 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Microtubules,Centrosome,Cytosol,Flagellar centriole,Mid piece,Principal piece,End piece
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Canonical amino-acid sequenceUniProt
638 residues, UniProt reviewed canonical sequence.
>Q13409|DYNC1I2
1 MSDKSELKAE LERKKQRLAQ IREEKKRKEE ERKKKETDQK KEAVAPVQEE SDLEKKRREA
61 EALLQSMGLT PESPIVFSEY WVPPPMSPSS KSVSTPSEAG SQDSGDGAVG SRTLHWDTDP
121 SVLQLHSDSD LGRGPIKLGM AKITQVDFPP REIVTYTKET QTPVMAQPKE DEEEDDDVVA
181 PKPPIEPEEE KTLKKDEEND SKAPPHELTE EEKQQILHSE EFLSFFDHST RIVERALSEQ
241 INIFFDYSGR DLEDKEGEIQ AGAKLSLNRQ FFDERWSKHR VVSCLDWSSQ YPELLVASYN
301 NNEDAPHEPD GVALVWNMKY KKTTPEYVFH CQSAVMSATF AKFHPNLVVG GTYSGQIVLW
361 DNRSNKRTPV QRTPLSAAAH THPVYCVNVV GTQNAHNLIS ISTDGKICSW SLDMLSHPQD
421 SMELVHKQSK AVAVTSMSFP VGDVNNFVVG SEEGSVYTAC RHGSKAGISE MFEGHQGPIT
481 GIHCHAAVGA VDFSHLFVTS SFDWTVKLWT TKNNKPLYSF EDNADYVYDV MWSPTHPALF
541 ACVDGMGRLD LWNLNNDTEV PTASISVEGN PALNRVRWTH SGREIAVGDS EGQIVIYDVG
601 EQIAVPRNDE WARFGRTLAE INANRADAEE EAATRIPALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DYNC1I2 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)
- 0.39
- Highest tissue expression
- 153 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 153 nTPM
- midbrain: 92 nTPM
- blood vessel: 87 nTPM
- cerebral cortex: 81 nTPM
- smooth muscle: 75 nTPM
- kidney: 75 nTPM
Single-cell type
- late primary spermatocytes: 318 nCPM
- esophageal apical cells: 262 nCPM
- oocytes: 230 nCPM
- oligodendrocytes: 200 nCPM
- early primary spermatocytes: 182 nCPM
- hepatic stellate cells: 181 nCPM
Immune cell
- basophil: 211 nTPM
- plasmacytoid DC: 112 nTPM
- non-classical monocyte: 101 nTPM
- intermediate monocyte: 98 nTPM
- classical monocyte: 94 nTPM
- memory B-cell: 78 nTPM
Brain region
- white matter: 225 nTPM
- medulla oblongata: 181 nTPM
- pons: 167 nTPM
- cerebellum: 164 nTPM
- basal ganglia: 157 nTPM
- midbrain: 150 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DYNC1I2.
Disease | AllUniProt
Conditions DYNC1I2 is implicated in, by any mechanism.
- Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) MIM:618492
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 122 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with microcephaly and structural brain anomalies
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
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)
- 0.77
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.45
- DepMap mean gene effect
- -1.64
- DepMap dependency class
- pan
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 DYNC1I2 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 DYNC1I2 as an antibody target. Whether an autoantibody or antibody against DYNC1I2 could matter depends on whether native DYNC1I2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DYNC1I2 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 DYNC1I2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...