DNAAF8

Summary

DNAAF8 (dynein axonemal assembly factor 8, HGNC:25081) is a protein-coding gene on chromosome 16p13.3, encoding Dynein axonemal assembly factor 8 (Q8IYS4). In cyliated cells, dynein axonemal particle-specific protein required for deployment of ODA to the axoneme.

Predicted to enable dynein complex binding activity. Predicted to be involved in outer dynein arm assembly. Located in dynein axonemal particle.

Source: NCBI Gene 146562 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_139170

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25081
Approved symbol	DNAAF8
Name	dynein axonemal assembly factor 8
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ43261, DKFZp686H2240, Daap1
Ensembl gene	ENSG00000166246
Ensembl biotype	protein_coding
Entrez	146562

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000299320, ENST00000586256, ENST00000586724, ENST00000590191, ENST00000619274, ENST00000961193

RefSeq mRNA: 1 — MANE Select: NM_139170 NM_139170

CCDS: CCDS10521

Canonical transcript exons

ENST00000299320 — 10 exons

Exon	Start	End
ENSE00001145428	4746375	4746512
ENSE00001145455	4746927	4747025
ENSE00001192939	4747343	4747634
ENSE00001860739	4734537	4734698
ENSE00002814055	4748725	4749396
ENSE00003460644	4736464	4736643
ENSE00003489008	4744870	4745011
ENSE00003581230	4737800	4737946
ENSE00003634705	4740153	4740659
ENSE00003635176	4743043	4743160

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 95.36.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6139 / max 103.7495, expressed in 281 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152493	0.4273	219
152492	0.1014	9
152494	0.0361	10
152491	0.0275	7
207719	0.0135	5
207718	0.0080	2

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.36	gold quality
right testis	UBERON:0004534	94.78	gold quality
testis	UBERON:0000473	92.16	gold quality
right uterine tube	UBERON:0001302	91.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.30	gold quality
epithelium of bronchus	UBERON:0002031	80.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.29	gold quality
bronchus	UBERON:0002185	79.93	gold quality
bronchial epithelial cell	CL:0002328	79.77	gold quality
nasal cavity mucosa	UBERON:0001826	74.69	gold quality
adult organism	UBERON:0007023	73.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.51	gold quality
triceps brachii	UBERON:0001509	71.47	gold quality
gluteal muscle	UBERON:0002000	71.43	gold quality
adenohypophysis	UBERON:0002196	71.09	gold quality
nasal cavity epithelium	UBERON:0005384	70.63	silver quality
pituitary gland	UBERON:0000007	70.31	gold quality
oocyte	CL:0000023	69.49	gold quality
stromal cell of endometrium	CL:0002255	67.15	gold quality
right adrenal gland	UBERON:0001233	66.95	gold quality
prefrontal cortex	UBERON:0000451	66.46	gold quality
right adrenal gland cortex	UBERON:0035827	65.96	gold quality
secondary oocyte	CL:0000655	65.93	gold quality
caudate nucleus	UBERON:0001873	65.92	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	65.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	65.57	gold quality
right frontal lobe	UBERON:0002810	65.35	gold quality
sperm	CL:0000019	65.14	gold quality
cerebellar hemisphere	UBERON:0002245	65.13	gold quality
biceps brachii	UBERON:0001507	65.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting DNAAF8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-615-5P	98.10	63.76	591
HSA-MIR-6884-3P	98.05	65.32	750
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-6788-5P	97.80	66.41	1532
HSA-MIR-4799-3P	97.78	65.97	893
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-890	97.47	68.67	982
HSA-MIR-4720-5P	97.46	65.67	893
HSA-MIR-5588-5P	97.46	65.70	913
HSA-MIR-4749-3P	96.40	66.24	798
HSA-MIR-3170	95.84	64.32	721
HSA-MIR-7704	95.30	62.35	115
HSA-MIR-885-3P	95.14	63.08	448
HSA-MIR-365A-5P	94.91	63.72	471
HSA-MIR-365B-5P	94.91	63.79	470
HSA-MIR-6890-5P	92.89	65.83	442

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dnaaf8	ENSMUSG00000022543
rattus_norvegicus	Dnaaf8	ENSRNOG00000028075

Protein

Protein identifiers

Dynein axonemal assembly factor 8 — Q8IYS4 (reviewed: Q8IYS4)

Alternative names: Dynein axonemal-associated protein 1

All UniProt accessions (4): A0A087WT50, Q8IYS4, K7ENX3, K7EPW6

UniProt curated annotations — full annotation on UniProt →

Function. In cyliated cells, dynein axonemal particle-specific protein required for deployment of ODA to the axoneme. Interacts with outer dynein arm (ODA) subunits.

Subcellular location. Dynein axonemal particle. Cytoplasm.

Tissue specificity. Expressed in respiratory ciliated cells (at protein level).

RefSeq proteins (1): NP_631909* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031531	DNAAF8	Family

Pfam: PF15773

UniProt features (19 total): sequence variant 8, region of interest 4, compositionally biased region 3, modified residue 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYS4-F1	54.56	0.05

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 161, 351

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GOBP_CILIUM_ORGANIZATION, MODULE_480, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, MODULE_427, MODULE_192, TCCCRNNRTGC_UNKNOWN, SCGGAAGY_ELK1_02, YOSHIMURA_MAPK8_TARGETS_UP, BRUINS_UVC_RESPONSE_LATE, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION

GO Biological Process (1): outer dynein arm assembly (GO:0036158)

GO Molecular Function (1): dynein complex binding (GO:0070840)

GO Cellular Component (2): cytoplasm (GO:0005737), dynein axonemal particle (GO:0120293)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
axonemal dynein complex assembly	1
protein-containing complex binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAAF8	DNAL4	O96015	488
DNAAF8	CCDC158	Q5M9N0	448
DNAAF8	PARVA	Q9NVD7	437
DNAAF8	POMZP3	Q6PJE2	431
DNAAF8	ZNF845	Q96IR2	418
DNAAF8	DYNLT2B	Q8WW35	415
DNAAF8	OR5A2	Q8NGI9	401
DNAAF8	DNAI4	Q5VTH9	395
DNAAF8	ZNF708	P17019	393
DNAAF8	CLEC2L	P0C7M8	378
DNAAF8	FBRSL1	Q9HCM7	370
DNAAF8	NME9	Q86XW9	367
DNAAF8	DNAI1	Q9UI46	367
DNAAF8	MIMS1	Q96ND0	366
DNAAF8	CCDC134	Q9H6E4	349
DNAAF8	CYSTM1	Q9H1C7	349

IntAct

7 interactions, top by confidence:

A	B	Type	Score
DNAAF8	CCDC85C	psi-mi:“MI:0914”(association)	0.530
GPR161	USP12	psi-mi:“MI:0914”(association)	0.530
SLC28A2	EMC8	psi-mi:“MI:0914”(association)	0.350
PTEN	DNAAF8	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (52): TNIP2 (Affinity Capture-MS), MEIS2 (Affinity Capture-MS), MEIS1 (Affinity Capture-MS), PKNOX2 (Affinity Capture-MS), PBX3 (Affinity Capture-MS), GNPAT (Affinity Capture-MS), PBX2 (Affinity Capture-MS), ACOT9 (Affinity Capture-MS), DUSP3 (Affinity Capture-MS), OBSL1 (Affinity Capture-MS), FGFRL1 (Affinity Capture-MS), PBX1 (Affinity Capture-MS), RNF138 (Affinity Capture-MS), KLHDC2 (Affinity Capture-MS), PIP4K2C (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A2VE02, A5D7I0, A6NDY2, A6NGG8, A6NIJ5, A6NNJ1, A8MXJ8, A8MYA2, B1ASB6, B2RW88, D6RGX4, O60269, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV75, P0DV76, Q2KIS6, Q2NL68, Q3SY00, Q4R736, Q4V8B5, Q5RCQ2, Q5SZB4, Q5VZ46, Q5XIK6, Q658T7, Q66JV7, Q6NS69, Q6PAC4, Q6ZMY3, Q76N32, Q7TSA6, Q7Z591, Q80VW7, Q80X53

Diamond homologs: A0A1L8EYB2, A1AE56, A1B2U9, A4WD96, A6TCD7, A7MGV2, A7ZPW1, A8A324, A8AD67, A9MHL2, B0S9J3, B0SJT4, B1IWE3, B1LNH3, B1XAZ3, B2TXU3, B4T0Q2, B4TD96, B4TR98, B5BAY2, B5F1A1, B5FR67, B5R585, B5RCZ5, B5XNL1, B5Z0Y7, B6I590, B7LDB0, B7LKC0, B7M7M2, B7MI03, B7MYF2, B7N6A6, B7NRG8, B7UGW4, C0PYM7, C0QS47, C4ZX93, P0A763, P0A764

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

18 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1517 predictions. Top by Δscore:

Variant	Effect	Δscore
16:4737654:GCTCC:G	donor_gain	1.0000
16:4737798:A:AG	acceptor_gain	1.0000
16:4737798:AGTC:A	acceptor_gain	1.0000
16:4737799:G:GA	acceptor_gain	1.0000
16:4737799:GTCG:G	acceptor_gain	1.0000
16:4737910:GGCC:G	donor_gain	1.0000
16:4737945:AG:A	donor_loss	1.0000
16:4737947:G:T	donor_loss	1.0000
16:4740152:GCC:G	acceptor_gain	1.0000
16:4740152:GCCA:G	acceptor_gain	1.0000
16:4745005:G:GT	donor_gain	1.0000
16:4734476:A:T	donor_gain	0.9900
16:4734484:G:GT	donor_gain	0.9900
16:4737797:CAGTC:C	acceptor_loss	0.9900
16:4737798:AGTCG:A	acceptor_gain	0.9900
16:4737799:G:GT	acceptor_loss	0.9900
16:4737799:GT:G	acceptor_gain	0.9900
16:4737799:GTC:G	acceptor_gain	0.9900
16:4737799:GTCGG:G	acceptor_gain	0.9900
16:4737961:GAAGA:G	donor_gain	0.9900
16:4740151:A:AG	acceptor_gain	0.9900
16:4740151:AG:A	acceptor_loss	0.9900
16:4740152:G:GA	acceptor_gain	0.9900
16:4740152:GC:G	acceptor_gain	0.9900
16:4740655:TCCAG:T	donor_loss	0.9900
16:4740656:CCAG:C	donor_loss	0.9900
16:4740657:CAG:C	donor_loss	0.9900
16:4740658:AGGTA:A	donor_loss	0.9900
16:4740659:GG:G	donor_loss	0.9900
16:4740661:T:G	donor_loss	0.9900

AlphaMissense

3371 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:4737830:T:C	F54L	0.985
16:4737832:C:A	F54L	0.985
16:4737832:C:G	F54L	0.985
16:4747358:A:C	K432N	0.969
16:4747358:A:T	K432N	0.969
16:4746463:T:C	F378L	0.968
16:4746465:T:A	F378L	0.968
16:4746465:T:G	F378L	0.968
16:4747357:A:T	K432I	0.957
16:4737831:T:C	F54S	0.956
16:4737855:T:C	I62T	0.955
16:4737824:T:C	F52L	0.953
16:4737826:C:A	F52L	0.953
16:4737826:C:G	F52L	0.953
16:4740485:A:C	R203S	0.949
16:4740485:A:T	R203S	0.949
16:4737831:T:G	F54C	0.947
16:4737837:G:C	R56P	0.946
16:4747366:T:C	L435P	0.944
16:4747359:A:C	S433R	0.928
16:4747361:C:A	S433R	0.928
16:4747361:C:G	S433R	0.928
16:4747357:A:C	K432T	0.927
16:4743062:T:C	L268S	0.924
16:4737828:T:C	I53T	0.920
16:4737828:T:A	I53N	0.917
16:4736581:T:A	W23R	0.914
16:4736581:T:C	W23R	0.914
16:4743065:A:T	D269V	0.910
16:4747356:A:C	K432Q	0.910

dbSNP variants (sampled 300 via entrez): RS1000036408 (16:4736763 T>C), RS1000044339 (16:4742390 A>T), RS1000086207 (16:4735769 G>T), RS1000418376 (16:4742131 C>G,T), RS1000546627 (16:4732601 G>C), RS1000966450 (16:4732927 G>A), RS1001002005 (16:4732703 C>A,G), RS1001220305 (16:4742699 G>A), RS1001280469 (16:4745241 C>T), RS1001335020 (16:4732712 A>G,T), RS1001376140 (16:4733030 G>A), RS1001407128 (16:4733200 C>A,T), RS1001430045 (16:4740461 C>G,T), RS1001688242 (16:4747253 G>A,C), RS1001732917 (16:4745519 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	affects cotreatment, increases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
abrine	increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Polychlorinated Biphenyls	affects expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.