DYNAP

Summary

DYNAP (dynactin associated protein, HGNC:26808) is a protein-coding gene on chromosome 18q21.2, encoding Dynactin-associated protein (Q8N1N2). Plays a role in the regulation of cell proliferation.

Involved in several processes, including activation of protein kinase B activity; cellular response to ergosterol; and positive regulation of cell population proliferation. Located in Golgi apparatus and plasma membrane.

Source: NCBI Gene 284254 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 35 total
• GTEx eGene: eQTL in 3 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.07 (LoF-tolerant), LOEUF 1.22 (unconstrained)
• MANE Select transcript: NM_173629

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26808
Approved symbol	DYNAP
Name	dynactin associated protein
Location	18q21.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39106
Ensembl gene	ENSG00000178690
Ensembl biotype	protein_coding
OMIM	619421
Entrez	284254

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

MANE Select: ENST00000648945

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 2: 1, TSL 3: 1

ENST00000648945, ENST00000321600, ENST00000585973, ENST00001131530

RefSeq mRNA: 2 — MANE Select: NM_173629 NM_001307955, NM_173629

CCDS: CCDS11957, CCDS77190

Canonical transcript exons

ENST00000648945 — 3 exons

Exon	Start	End
ENSE00001262658	54594939	54595103
ENSE00001262667	54597813	54599493
ENSE00003910603	54591245	54591339

Expression profiles

Bgee: expression breadth broad, 75 present calls, max score 91.53.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0427 / max 49.3064, expressed in 5 samples.

Highest expression (Bgee): lower esophagus mucosa, esophagus mucosa, primordial germ cell in gonad, esophagus, spleen.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DYNAP is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 3 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

3 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Mucosa	eqtl	4.5e-20	+0.36	18:54607423:T:C
Testis	eqtl	2.7e-05	-0.35	18:54381697:C:T
Skin Not Sun Exposed Suprapubic	eqtl	4.2e-04	+0.31	18:54630814:A:G

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
170302	0.0427	5

Top tissues by expression

showing 100 of 102 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	91.53	gold quality
esophagus mucosa	UBERON:0002469	86.31	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.90	gold quality
esophagus	UBERON:0001043	64.12	gold quality
spleen	UBERON:0002106	59.22	gold quality
smooth muscle tissue	UBERON:0001135	53.43	gold quality
left uterine tube	UBERON:0001303	53.26	gold quality
tonsil	UBERON:0002372	50.96	gold quality
right lobe of liver	UBERON:0001114	48.78	silver quality
uterine cervix	UBERON:0000002	47.41	gold quality
right ovary	UBERON:0002118	47.14	gold quality
blood	UBERON:0000178	45.29	silver quality
ectocervix	UBERON:0012249	45.15	gold quality
sural nerve	UBERON:0015488	44.62	gold quality
ovary	UBERON:0000992	44.57	gold quality
liver	UBERON:0002107	44.26	silver quality
left ovary	UBERON:0002119	43.89	gold quality
endocervix	UBERON:0000458	43.86	gold quality
right coronary artery	UBERON:0001625	43.69	gold quality
monocyte	CL:0000576	43.29	gold quality
primary visual cortex	UBERON:0002436	43.18	gold quality
granulocyte	CL:0000094	43.02	silver quality
leukocyte	CL:0000738	42.66	gold quality
fallopian tube	UBERON:0003889	42.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	42.38	gold quality
bone marrow	UBERON:0002371	42.13	silver quality
minor salivary gland	UBERON:0001830	41.09	gold quality
descending thoracic aorta	UBERON:0002345	40.83	silver quality
saliva-secreting gland	UBERON:0001044	40.80	gold quality
bone marrow cell	CL:0002092	40.46	gold quality
lymph node	UBERON:0000029	40.35	gold quality
muscle tissue	UBERON:0002385	40.17	gold quality
cortical plate	UBERON:0005343	40.14	gold quality
left coronary artery	UBERON:0001626	40.08	gold quality
right adrenal gland cortex	UBERON:0035827	40.00	silver quality
apex of heart	UBERON:0002098	39.76	silver quality
stromal cell of endometrium	CL:0002255	39.35	gold quality
lower esophagus	UBERON:0013473	39.24	gold quality
lower esophagus muscularis layer	UBERON:0035833	38.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	38.83	gold quality
urinary bladder	UBERON:0001255	38.26	gold quality
duodenum	UBERON:0002114	37.91	silver quality
omental fat pad	UBERON:0010414	37.87	gold quality
vagina	UBERON:0000996	37.73	gold quality
thoracic aorta	UBERON:0001515	37.40	gold quality
vermiform appendix	UBERON:0001154	37.35	gold quality
tibial artery	UBERON:0007610	37.30	gold quality
popliteal artery	UBERON:0002250	37.25	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.84	gold quality
ascending aorta	UBERON:0001496	36.80	silver quality
multicellular organism	UBERON:0000468	36.65	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	36.27	gold quality
mucosa of stomach	UBERON:0001199	36.23	silver quality
adrenal tissue	UBERON:0018303	35.65	gold quality
gall bladder	UBERON:0002110	35.49	gold quality
calcaneal tendon	UBERON:0003701	35.27	gold quality
prefrontal cortex	UBERON:0000451	35.08	silver quality
endometrium	UBERON:0001295	34.90	gold quality
left adrenal gland cortex	UBERON:0035825	34.82	silver quality
skin of abdomen	UBERON:0001416	34.62	gold quality
muscle layer of sigmoid colon	UBERON:0035805	34.60	gold quality
tibial nerve	UBERON:0001323	34.35	silver quality
heart	UBERON:0000948	34.27	silver quality
adipose tissue	UBERON:0001013	34.27	gold quality
intestine	UBERON:0000160	33.42	gold quality
colon	UBERON:0001155	33.26	gold quality
right adrenal gland	UBERON:0001233	33.21	silver quality
small intestine	UBERON:0002108	33.21	gold quality
gastrocnemius	UBERON:0001388	33.19	silver quality
zone of skin	UBERON:0000014	33.16	silver quality
heart left ventricle	UBERON:0002084	33.10	silver quality
myometrium	UBERON:0001296	33.01	gold quality
right atrium auricular region	UBERON:0006631	32.68	silver quality
kidney	UBERON:0002113	32.67	silver quality
small intestine Peyer’s patch	UBERON:0003454	32.62	gold quality
frontal cortex	UBERON:0001870	32.55	silver quality
stomach	UBERON:0000945	32.45	gold quality
placenta	UBERON:0001987	32.07	gold quality
skin of leg	UBERON:0001511	31.96	silver quality
body of stomach	UBERON:0001161	31.80	gold quality
adult mammalian kidney	UBERON:0000082	31.46	silver quality
transverse colon	UBERON:0001157	31.29	gold quality
subcutaneous adipose tissue	UBERON:0002190	31.29	silver quality
superior frontal gyrus	UBERON:0002661	30.58	gold quality
prostate gland	UBERON:0002367	30.50	silver quality
cerebellum	UBERON:0002037	30.49	gold quality
cerebellar cortex	UBERON:0002129	30.48	gold quality
cerebellar hemisphere	UBERON:0002245	30.41	gold quality
pancreas	UBERON:0001264	30.33	gold quality
right hemisphere of cerebellum	UBERON:0014890	30.19	gold quality
islet of Langerhans	UBERON:0000006	29.99	silver quality
body of pancreas	UBERON:0001150	29.70	gold quality
right uterine tube	UBERON:0001302	29.16	gold quality
caudate nucleus	UBERON:0001873	28.92	gold quality
nucleus accumbens	UBERON:0001882	28.26	gold quality
fundus of stomach	UBERON:0001160	26.70	gold quality
rectum	UBERON:0001052	26.68	gold quality
right testis	UBERON:0004534	26.38	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.93

HPA expression

RNA tissue specificity: Tissue enriched

46 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Esophagus	tissue	27.6
Postcentral gyrus	tissue	18.2
Hippocampus	tissue	17.5
Nucleus accumbens	tissue	16.3
Locus coeruleus	tissue	15.3
Choroid plexus	tissue	12.2
Retina	tissue	2.4
Spleen	tissue	2.2
Bone marrow	tissue	2.1
Epididymis	tissue	1.9
Tonsil	tissue	1.8
Skin 1	tissue	1.0
Lymph node	tissue	1.0
Testis	tissue	0.9
Heart muscle	tissue	0.9
Endometrium 1	tissue	0.9
Skeletal muscle	tissue	0.8
Smooth muscle	tissue	0.8
Kidney	tissue	0.8
Adipose tissue	tissue	0.7
Liver	tissue	0.7
Salivary gland	tissue	0.6
Rectum	tissue	0.6
Colon	tissue	0.6
Gallbladder	tissue	0.6
Appendix	tissue	0.6
Breast	tissue	0.5
Ovary	tissue	0.5
Seminal vesicle	tissue	0.5
Thyroid gland	tissue	0.5
Lung	tissue	0.5
Small intestine	tissue	0.5
Duodenum	tissue	0.5
Fallopian tube	tissue	0.5
Stomach 1	tissue	0.4
Pancreas	tissue	0.4
Placenta	tissue	0.4
Adrenal gland	tissue	0.4
Cervix	tissue	0.3
Parathyroid gland	tissue	0.3
Tongue	tissue	0.3
Prostate	tissue	0.3
Thymus	tissue	0.3
Hippocampal formation	tissue	0.3
Vagina	tissue	0.2
Urinary bladder	tissue	0.2

Brain sub-regions (HPA Brain Atlas): detected in 183; highest nTPM — Parietal operculum (21.1), Vermis (20.8), Somatosensory cortex, postcentral gyrus, ventral (white matter) (20.7), Flocculonodular lobe (20.2), Paraventricular nucleus (20.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting DYNAP by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 92 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-12117	99.50	67.57	868

Functional genomics

gnomAD constraint: pLI 0.066, LOEUF 1.22, missense Z -0.562 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000648945 — one region, missense o/e 1.14.

Literature-anchored findings (GeneRIF, showing 1)

• DynAP, which promotes activation of Akt, can be a new target for cancer therapy. (PMID:20978158)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Dynap	ENSRNOG00000063474

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
RAB27B	protein-coding	5874
CCDC68	protein-coding	80323

Protein

Protein identifiers

Dynactin-associated protein — Q8N1N2 (reviewed: Q8N1N2)

All UniProt accessions (3): A0A3B3IRJ4, Q8N1N2, K7EMN5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the regulation of cell proliferation. Promotes activation of the AKT1 signaling pathway. Promotes phosphorylation of AKT1 at ‘Ser-473’.

Subunit / interactions. Interacts with DCTN1 and DCTN2.

Subcellular location. Golgi apparatus membrane. Cell membrane.

Tissue specificity. Expressed in fibroblast and numerous cancer cell lines (at protein level).

RefSeq proteins (2): NP_001294884, NP_775900* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031379	CLLAC	Domain
IPR053297	Dynactin-associated	Family

Pfam: PF15675

UniProt features (9 total): topological domain 2, sequence variant 2, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N1N2-F1	60.24	0.10

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH uncertain

Functional residue map

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

Glycosylation sites (1)

Type	Positions
N-linked (glcnac…) asparagine	117

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 62 (showing top): GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOBP_RESPONSE_TO_STEROL, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_STEROL, GOBP_CELLULAR_RESPONSE_TO_ALCOHOL, GOBP_ACTIVATION_OF_PROTEIN_KINASE_B_ACTIVITY, GOBP_ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY, GOBP_RESPONSE_TO_ALCOHOL

GO Biological Process (4): positive regulation of cell population proliferation (GO:0008284), activation of protein kinase B activity (GO:0032148), regulation of apoptotic process (GO:0042981), cellular response to ergosterol (GO:1901625)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886)

GO top-level categories

16 GO namespaces:

Category	Terms
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
activation of protein kinase activity	1
apoptotic process	1
regulation of programmed cell death	1
cellular response to sterol	1
cellular response to alcohol	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

6 experimentally-supported GO terms:

GO term	NS	Evidence
activation of protein kinase B activity	BP	direct assay
cellular response to ergosterol	BP	direct assay
positive regulation of cell population proliferation	BP	direct assay
regulation of apoptotic process	BP	direct assay
Golgi apparatus	CC	direct assay
plasma membrane	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 290 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DYNAP	DCTN2	Q13561	438
DYNAP	NUDC	Q9Y266	409
DYNAP	PDXDC1	Q6P996	348
DYNAP	CLIP1	P30622	304
DYNAP	MTHFD2L	Q9H903	301
DYNAP	TEX28	O15482	247
DYNAP	ZMYM5	Q9UJ78	192
DYNAP	AR	P10275	190
DYNAP	SRCAP	Q6ZRS2	179
DYNAP	VPS72	Q15906	178
DYNAP	CEP55	Q53EZ4	172
DYNAP	KIF20A	O95235	171
DYNAP	PLEKHG6	Q3KR16	162
DYNAP	KIF23	Q02241	160
DYNAP	SEPTIN12	Q8IYM1	158

Disease & clinical

Genetic variants

Variant evidence for DYNAP: 35 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	3
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 18 predictions of 203):

Position(s)	Effect	Δscore	Sites
18:54591340–54591341	donor_loss	0.9900	3
18:54591340–54591341	donor_loss	0.9800	2
18:54597789	acceptor_gain	0.9500
18:54597811–54597812	acceptor_loss	0.9200	6
18:54597802	acceptor_loss	0.9000
18:54597806	acceptor_loss	0.9000
18:54597804	acceptor_loss	0.8800
18:54597800	acceptor_loss	0.8700
18:54592151	acceptor_gain	0.8400
18:54597810	acceptor_loss	0.8300

AlphaMissense

44 missense substitutions predicted likely pathogenic (of 1,186 scored), across 21 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F115	5	0.838	0.926
W112	4	0.818	0.862
G129	3	0.810	0.826
C122	3	0.793	0.936
L131	3	0.776	0.808
C118	3	0.751	0.940
L119	3	0.705	0.760
I124	2	0.829	0.851
T126	2	0.784	0.790
M125	2	0.771	0.777
A127	2	0.767	0.819
I132	2	0.693	0.721
A121	2	0.689	0.804
V130	1	0.744	0.744
C134	1	0.712	0.712
A117	1	0.686	0.686
V123	1	0.666	0.666
I133	1	0.629	0.629
I128	1	0.624	0.624
L116	1	0.610	0.610

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:619421 | disease phenotypes:

GWAS associations

2 associations:

Study	Trait	p-value
GCST004904_140	Body mass index	8e-10
GCST005038_1	Allergic disease (asthma, hay fever or eczema)	6e-9

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, increases methylation	3
bisphenol F	affects cotreatment, decreases methylation	1
decabromobiphenyl ether	affects expression	1
sodium arsenite	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.