Seroatlas · Human Serome Atlas

DNAAF2

Protein kintoun

Also known as: C14orf104, CILD10, FLJ10563, KTU, KTU_HUMAN, PF13

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

Protein identityUniProt · HPA

UniProt accession: Q9NVR5
Gene: DNAAF2
Ensembl: ENSG00000165506
Chromosome: 14
Canonical length: 837 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli,Golgi apparatus,Primary cilium,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

837 residues, UniProt reviewed canonical sequence.

>Q9NVR5|DNAAF2
     1  MAKAAASSSL EDLDLSGEEV QRLTSAFQDP EFRRMFSQYA EELTDPENRR RYEAEITALE
    61  RERGVEVRFV HPEPGHVLRT SLDGARRCFV NVCSNALVGA PSSRPGSGGD RGAAPGSHWS
   121  LPYSLAPGRE YAGRSSSRYM VYDVVFHPDA LALARRHEGF RQMLDATALE AVEKQFGVKL
   181  DRRNAKTLKA KYKGTPEAAV LRTPLPGVIP ARPDGEPKGP LPDFPYPYQY PAAPGPRAPS
   241  PPEAALQPAP TEPRYSVVQR HHVDLQDYRC SRDSAPSPVP HELVITIELP LLRSAEQAAL
   301  EVTRKLLCLD SRKPDYRLRL SLPYPVDDGR GKAQFNKARR QLVVTLPVVL PAARREPAVA
   361  VAAAAPEESA DRSGTDGQAC ASAREGEAGP ARSRAEDGGH DTCVAGAAGS GVTTLGDPEV
   421  APPPAAAGEE RVPKPGEQDL SRHAGSPPGS VEEPSPGGEN SPGGGGSPCL SSRSLAWGSS
   481  AGRESARGDS SVETREESEG TGGQRSACAM GGPGTKSGEP LCPPLLCNQD KETLTLLIQV
   541  PRIQPQSLQG DLNPLWYKLR FSAQDLVYSF FLQFAPENKL STTEPVISIS SNNAVIELAK
   601  SPESHGHWRE WYYGVNNDSL EERLFVNEEN VNEFLEEVLS SPFKQSMSLT PPLIEVLQVT
   661  DNKIQINAKL QECSNSDQLQ GKEERVNEES HLTEKEYIEH CNTPTTDSDS SIAVKALQID
   721  SFGLVTCFQQ ESLDVSQMIL GKSQQPESKM QSEFIKEKSA TCSNEEKDNL NESVITEEKE
   781  TDGDHLSSLL NKTTVHNIPG FDSIKETNMQ DGSVQVIKDH VTNCAFSFQN SLLYDLD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAAF2 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): 0.51
Highest tissue expression: 8.7 nTPM

Expression across tissuesHPA

Tissue

liver: 8.7 nTPM
fallopian tube: 8.1 nTPM
duodenum: 7.1 nTPM
pancreas: 6.5 nTPM
kidney: 6.4 nTPM
testis: 6 nTPM

Single-cell type

fallopian tube ciliated cells: 57 nCPM
respiratory ciliated cells: 53 nCPM
epididymal efferent duct ciliated cells: 50 nCPM
plasma cells: 48 nCPM
oocytes: 46 nCPM
parietal cells: 46 nCPM

Immune cell

NK-cell: 13 nTPM
memory B-cell: 12 nTPM
memory CD8 T-cell: 9.9 nTPM
naive B-cell: 9.3 nTPM
MAIT T-cell: 8.9 nTPM
T-reg: 8.5 nTPM

Brain region

choroid plexus: 13 nTPM
midbrain: 9.6 nTPM
cerebellum: 8.2 nTPM
spinal cord: 8.2 nTPM
medulla oblongata: 8 nTPM
hypothalamus: 7.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAAF2.

Disease | AllUniProt

Conditions DNAAF2 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 10 (CILD10) MIM:612518

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 651 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
DNAAF2-related disorder
Kartagener syndrome

Disease | ImmuneIEDB

Conditions an epitope on DNAAF2 was assayed in.

ovarian cancer T cell

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): 1.07
gnomAD pLI: 0
gnomAD missense Z: -0.25
DepMap mean gene effect: -0.02
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNAAF2 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 DNAAF2 as an antibody target. Whether an autoantibody or antibody against DNAAF2 could matter depends on whether native DNAAF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAAF2 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 DNAAF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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