DNAJC16

Summary

DNAJC16 (DnaJ heat shock protein family (Hsp40) member C16, HGNC:29157) is a protein-coding gene on chromosome 1p36.21, encoding DnaJ homolog subfamily C member 16 (Q9Y2G8). Plays an important role in regulating the size of autophagosomes during the formation process.

Involved in regulation of autophagosome size. Located in endoplasmic reticulum membrane.

Source: NCBI Gene 23341 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 135 total
• MANE Select transcript: NM_015291

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29157
Approved symbol	DNAJC16
Name	DnaJ heat shock protein family (Hsp40) member C16
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0962
Ensembl gene	ENSG00000116138
Ensembl biotype	protein_coding
OMIM	619973
Entrez	23341

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000375838, ENST00000375847, ENST00000375849, ENST00000472665, ENST00000475133, ENST00000479655, ENST00000483270, ENST00000490811, ENST00000495523, ENST00000616884, ENST00000907398

RefSeq mRNA: 2 — MANE Select: NM_015291 NM_001287811, NM_015291

CCDS: CCDS30606, CCDS72710

Canonical transcript exons

ENST00000375847 — 15 exons

Exon	Start	End
ENSE00000750460	15544399	15544583
ENSE00000750461	15546767	15546871
ENSE00000750462	15548270	15548428
ENSE00000750463	15559526	15559656
ENSE00001186128	15534237	15534303
ENSE00001186145	15536475	15536814
ENSE00001281104	15566082	15566180
ENSE00002151398	15529088	15529272
ENSE00003465851	15562142	15562325
ENSE00003481901	15567099	15567269
ENSE00003488977	15567778	15571733
ENSE00003611412	15565919	15565999
ENSE00003660497	15564283	15564359
ENSE00003690657	15563929	15564111
ENSE00003848429	15526848	15526958

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 89.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4729 / max 136.6362, expressed in 1802 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
881	14.4729	1802

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	89.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.95	gold quality
buccal mucosa cell	CL:0002336	89.60	gold quality
bronchial epithelial cell	CL:0002328	88.94	gold quality
corpus epididymis	UBERON:0004359	88.68	gold quality
adrenal tissue	UBERON:0018303	88.64	gold quality
caput epididymis	UBERON:0004358	88.52	gold quality
epithelium of bronchus	UBERON:0002031	87.54	gold quality
choroid plexus epithelium	UBERON:0003911	87.49	gold quality
bronchus	UBERON:0002185	87.15	gold quality
adult mammalian kidney	UBERON:0000082	86.75	gold quality
muscle of leg	UBERON:0001383	85.99	gold quality
middle temporal gyrus	UBERON:0002771	85.87	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.87	gold quality
stromal cell of endometrium	CL:0002255	85.66	gold quality
gastrocnemius	UBERON:0001388	85.66	gold quality
secondary oocyte	CL:0000655	85.29	gold quality
epithelium of nasopharynx	UBERON:0001951	85.17	gold quality
liver	UBERON:0002107	84.88	gold quality
cauda epididymis	UBERON:0004360	84.74	gold quality
kidney	UBERON:0002113	84.59	gold quality
muscle organ	UBERON:0001630	84.38	gold quality
nephron tubule	UBERON:0001231	84.33	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	84.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.21	gold quality
rectum	UBERON:0001052	84.01	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	83.89	gold quality
colonic epithelium	UBERON:0000397	83.70	gold quality
Brodmann (1909) area 10	UBERON:0013541	83.66	gold quality
islet of Langerhans	UBERON:0000006	83.48	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.88
E-GEOD-124858	no	465.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

116 targeting DNAJC16, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-106A-5P	99.90	73.94	2683

Literature-anchored findings (GeneRIF, showing 2)

• ERdj8 governs the size of autophagosomes during the formation process. (PMID:32492081)
• ERdj8 is another name for DNAJC16. (PMID:32492081)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajc16	ENSDARG00000059699
danio_rerio	dnajc16l	ENSDARG00000060725
mus_musculus	Dnajc16	ENSMUSG00000040697
rattus_norvegicus	Dnajc16	ENSRNOG00000012503
drosophila_melanogaster	Csp	FBGN0004179
drosophila_melanogaster	CG10565	FBGN0037051
drosophila_melanogaster	P58IPK	FBGN0037718
drosophila_melanogaster	l(3)80Fg	FBGN0287183
caenorhabditis_elegans		WBGENE00001020
caenorhabditis_elegans		WBGENE00001025
caenorhabditis_elegans		WBGENE00001026
caenorhabditis_elegans		WBGENE00001029
caenorhabditis_elegans		WBGENE00001032
caenorhabditis_elegans	dnj-28	WBGENE00001046
caenorhabditis_elegans		WBGENE00008122

Paralogs (20): DNAJC11 (ENSG00000007923), DNAJC25 (ENSG00000059769), DNAJC10 (ENSG00000077232), DNAJC5 (ENSG00000101152), DNAJC3 (ENSG00000102580), DNAJC17 (ENSG00000104129), DNAJC2 (ENSG00000105821), DNAJC12 (ENSG00000108176), DNAJC4 (ENSG00000110011), DNAJC14 (ENSG00000135392), DNAJC1 (ENSG00000136770), DNAJC13 (ENSG00000138246), DNAJC5B (ENSG00000147570), DNAJC5G (ENSG00000163793), DNAJC7 (ENSG00000168259), DNAJC21 (ENSG00000168724), DNAJC18 (ENSG00000170464), DNAJC24 (ENSG00000170946), DNAJC30 (ENSG00000176410), DNAJC9 (ENSG00000213551)

Protein

Protein identifiers

DnaJ homolog subfamily C member 16 — Q9Y2G8 (reviewed: Q9Y2G8)

Alternative names: Endoplasmic reticulum DNA J domain-containing protein 8

All UniProt accessions (4): Q9Y2G8, H0YCM8, Q5TDG9, Q5TDH4

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in regulating the size of autophagosomes during the formation process.

Subcellular location. Endoplasmic reticulum membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2G8-1	1	yes
Q9Y2G8-2	2

RefSeq proteins (2): NP_001274740, NP_056106* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR013766	Thioredoxin_domain	Domain
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR036869	J_dom_sf	Homologous_superfamily
IPR043361	DNAJC16_TRX	Domain
IPR052448	DnaJ_C16_autophagy_reg	Family

Pfam: PF00085, PF00226

UniProt features (15 total): mutagenesis site 3, topological domain 2, domain 2, compositionally biased region 2, signal peptide 1, chain 1, glycosylation site 1, splice variant 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2G8-F1	77.54	0.32

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): 631

Mutagenesis-validated functional residues (3):

Position	Phenotype
57	does not lead to enlargement of autophagosomes when overexpressed.
171	does not lead to enlargement of autophagosomes when overexpressed; when associated with a-174.
174	does not lead to enlargement of autophagosomes when overexpressed; when associated with a-171.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 196 (showing top): MORF_MSH3, GOBP_VACUOLE_ORGANIZATION, TGCACTT_MIR519C_MIR519B_MIR519A, MORF_BRCA1, MORF_ATRX, MORF_ESR1, MORF_RAD51L3, GOBP_MACROAUTOPHAGY, AGGCACT_MIR5153P, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, DOUGLAS_BMI1_TARGETS_DN, MORF_ETV3, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MORF_ATF2, MORF_BCL2L11

GO Biological Process (2): regulation of autophagosome size (GO:0016243), autophagy (GO:0006914)

GO Molecular Function (0):

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cellular component size	1
autophagosome organization	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2237 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJC16	CELA2B	P08218	507
DNAJC16	SGTA	O43765	476
DNAJC16	ZNF75D	P51815	474
DNAJC16	DNAJC27	Q9NZQ0	460
DNAJC16	BTBD7	Q9P203	460
DNAJC16	PJA2	O43164	449
DNAJC16	CREBRF	Q8IUR6	440
DNAJC16	AGMAT	Q9BSE5	434
DNAJC16	RBM22	Q9NW64	429
DNAJC16	DNAJC8	O75937	420
DNAJC16	DNAJC28	Q9NX36	420
DNAJC16	ALG11	Q2TAA5	409
DNAJC16	NR1D2	Q14995	396
DNAJC16	PTGES3	Q15185	392
DNAJC16	USP19	O94966	390

IntAct

131 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
IFT88	IFT56	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
EBNA-LP	HAX1	psi-mi:“MI:0914”(association)	0.530
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
ITM2A	NDUFB5	psi-mi:“MI:0914”(association)	0.530
SCNN1D	ABHD16A	psi-mi:“MI:0914”(association)	0.530
CLEC4A	SEMA7A	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
DCT	CANX	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
ECEL1	CLGN	psi-mi:“MI:0914”(association)	0.530
KCNK16	B3GAT3	psi-mi:“MI:0914”(association)	0.530
DNAJC16	SEC23IP	psi-mi:“MI:0915”(physical association)	0.400
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	SNAP23	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350
TUBA1A	KIF2A	psi-mi:“MI:0914”(association)	0.350
PB1	HAX1	psi-mi:“MI:0914”(association)	0.350
PB1	IPO5	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (307): DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Proximity Label-MS), DNAJC16 (Proximity Label-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Proximity Label-MS), DNAJC16 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M1N5Y4, A3KPF5, D7SFH9, O13811, O44342, P12865, P32474, P38658, P52588, Q0E0I1, Q0JD42, Q10057, Q17688, Q32L47, Q43116, Q498R3, Q4N4N8, Q53LQ0, Q54EN4, Q5FVM7, Q5R5L3, Q5RCM7, Q5WA72, Q5XI02, Q5ZKZ4, Q66GQ3, Q67IX6, Q69ST6, Q6AUC6, Q6NRT6, Q6P5E4, Q7XRB5, Q8IXB1, Q8N807, Q8VX13, Q8VZQ0, Q8W4J3, Q94F09, Q95LM0, Q96DN0

Diamond homologs: A0A0D1E2P6, A0A0P0VG31, A0AIS3, A1A9Q7, A4XKA5, A7Z6W0, A7ZKA5, A7ZYV2, A8AI78, A8FFD1, A9MH53, A9N6S2, B1IV97, B1LJ04, B1X8V5, B1YKT0, B2TTP8, B4T2U5, B4TEN5, B4TSM3, B5BBH2, B5F1Z5, B5FR40, B5R049, B5R6G3, B5YU43, B6I976, B7LFA9, B7LP19, B7M8Y3, B7MIE6, B7MPT2, B7N3F5, B7NLC5, B7UNY3, B8I304, B9DNJ9, B9MJZ0, C0Q893, C1KVB9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 169 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	7	24.8×	4e-06
ER-Phagosome pathway	10	11.7×	4e-06
Interferon gamma signaling	7	7.9×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of T cell mediated cytotoxicity	6	20.4×	9e-05
sodium ion transmembrane transport	9	12.2×	2e-05
transmembrane transport	8	9.0×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	107
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2672 predictions. Top by Δscore:

Variant	Effect	Δscore
1:15527020:G:T	donor_gain	1.0000
1:15529247:GCTTA:G	donor_gain	1.0000
1:15534235:A:AG	acceptor_gain	1.0000
1:15534236:G:GG	acceptor_gain	1.0000
1:15534236:GGC:G	acceptor_gain	1.0000
1:15534290:G:GG	donor_gain	1.0000
1:15534295:GCT:G	donor_gain	1.0000
1:15536470:TATA:T	acceptor_loss	1.0000
1:15536471:ATAG:A	acceptor_loss	1.0000
1:15536472:TA:T	acceptor_loss	1.0000
1:15536473:A:AC	acceptor_loss	1.0000
1:15536473:A:AG	acceptor_gain	1.0000
1:15536474:G:GG	acceptor_gain	1.0000
1:15536631:A:AG	acceptor_gain	1.0000
1:15536815:G:GA	donor_loss	1.0000
1:15536815:G:GG	donor_gain	1.0000
1:15544580:GAAA:G	donor_gain	1.0000
1:15544584:G:GG	donor_gain	1.0000
1:15557288:A:T	donor_gain	1.0000
1:15559522:CTA:C	acceptor_loss	1.0000
1:15559524:A:AG	acceptor_gain	1.0000
1:15559525:G:GT	acceptor_gain	1.0000
1:15559525:GGCCC:G	acceptor_gain	1.0000
1:15559652:AGGAA:A	donor_gain	1.0000
1:15559653:GGAA:G	donor_gain	1.0000
1:15559653:GGAAG:G	donor_gain	1.0000
1:15559654:G:GT	donor_gain	1.0000
1:15559654:G:T	donor_gain	1.0000
1:15559654:GAA:G	donor_gain	1.0000
1:15559654:GAAGT:G	donor_loss	1.0000

AlphaMissense

5162 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:15534238:C:G	H57D	1.000
1:15534277:T:C	F70L	1.000
1:15534279:C:A	F70L	1.000
1:15534279:C:G	F70L	1.000
1:15567137:T:C	L606P	1.000
1:15567200:T:C	L627P	1.000
1:15567827:T:A	W667R	1.000
1:15567827:T:C	W667R	1.000
1:15567829:G:C	W667C	1.000
1:15567829:G:T	W667C	1.000
1:15567924:T:C	L699P	1.000
1:15567927:C:A	A700D	1.000
1:15567930:T:C	L701P	1.000
1:15567936:G:A	G703D	1.000
1:15568109:T:A	W761R	1.000
1:15568109:T:C	W761R	1.000
1:15568122:T:C	L765P	1.000
1:15568160:T:A	W778R	1.000
1:15568160:T:C	W778R	1.000
1:15568162:G:C	W778C	1.000
1:15568162:G:T	W778C	1.000
1:15529243:A:C	K46N	0.999
1:15529243:A:T	K46N	0.999
1:15529255:G:C	K50N	0.999
1:15529255:G:T	K50N	0.999
1:15529263:C:A	A53D	0.999
1:15534240:T:A	H57Q	0.999
1:15534240:T:G	H57Q	0.999
1:15534278:T:C	F70S	0.999
1:15534278:T:G	F70C	0.999

dbSNP variants (sampled 300 via entrez): RS1000001607 (1:15556931 C>T), RS1000054323 (1:15530911 C>T), RS1000137812 (1:15563540 C>A), RS1000182129 (1:15549553 G>A), RS1000384207 (1:15570526 A>G,T), RS1000408280 (1:15542882 G>A), RS1000456498 (1:15556515 C>T), RS1000531452 (1:15531123 A>G), RS1000545068 (1:15554776 A>G), RS1000569760 (1:15537536 T>C), RS1000739642 (1:15561102 T>C), RS1000770642 (1:15561364 T>C,G), RS1000806132 (1:15531223 A>G), RS1000925377 (1:15526814 A>G), RS1000992771 (1:15568976 G>A,T)

Disease associations

OMIM: gene MIM:619973 | disease phenotypes: MIM:303350

GenCC curated gene-disease

Mondo (1): hereditary spastic paraplegia (MONDO:0019064)

Orphanet (1): Hereditary spastic paraplegia (Orphanet:685)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004049_11	Cough in response to angiotensin-converting enzyme inhibitor drugs	4.000000e-06
GCST004860_117	Alcoholic chronic pancreatitis	3.000000e-08
GCST004860_35	Alcoholic chronic pancreatitis	6.000000e-09
GCST004860_92	Alcoholic chronic pancreatitis	3.000000e-06
GCST90013407_160	Liver enzyme levels (gamma-glutamyl transferase)	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005325	response to angiotensin-converting enzyme inhibitor
EFO:0004532	serum gamma-glutamyl transferase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, decreases expression, increases expression, increases methylation, affects cotreatment	3
Valproic Acid	affects expression, increases methylation	2
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects methylation	1
Caffeine	affects phosphorylation	1
Chenodeoxycholic Acid	affects cotreatment, increases expression	1
Cisplatin	decreases expression	1
Coumestrol	decreases expression	1
Deoxycholic Acid	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, increases expression	1
Glycocholic Acid	affects cotreatment, increases expression	1
Glycodeoxycholic Acid	affects cotreatment, increases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Thiram	decreases expression	1
Cyclosporine	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT03961906	PHASE2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	PHASE2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT06117020	PHASE1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT02604186	PHASE2/PHASE3	COMPLETED	Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT06948019	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NCT06478238	EARLY_PHASE1	RECRUITING	Calcium Folinate Treatment of Spastic Paraplegia 56
NCT00023075	Not specified	COMPLETED	Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
NCT00136630	Not specified	COMPLETED	Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
NCT00140829	Not specified	COMPLETED	SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
NCT00677768	Not specified	COMPLETED	Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
NCT01568658	Not specified	ACTIVE_NOT_RECRUITING	Genetic and Physical Study of Childhood Nerve and Muscle Disorders
NCT02327845	Not specified	ENROLLING_BY_INVITATION	Phenotype, Genotype & Biomarkers in ALS and Related Disorders
NCT02852278	Not specified	COMPLETED	A Patient Centric Motor Neuron Disease Activities of Daily Living Scale
NCT02859428	Not specified	TERMINATED	Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
NCT03104088	Not specified	COMPLETED	Studying Cognition in SPG4
NCT03206190	Not specified	RECRUITING	The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
NCT03627416	Not specified	COMPLETED	Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
NCT03981276	Not specified	RECRUITING	Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
NCT04006418	Not specified	RECRUITING	A Registered Cohort Study on Spastic Paraplegia
NCT04180098	Not specified	COMPLETED	Improving Gait Adaptability in Hereditary Spastic Paraplegia
NCT04256681	Not specified	COMPLETED	SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP)
NCT04712812	Not specified	RECRUITING	Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
NCT04875416	Not specified	ACTIVE_NOT_RECRUITING	Phenotype, Genotype and Biomarkers 2
NCT04912609	Not specified	COMPLETED	Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
NCT05354622	Not specified	RECRUITING	Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
NCT05373082	Not specified	COMPLETED	Identification of Modifying Factors in Hereditary Spastic Paraplegia
NCT05411627	Not specified	WITHDRAWN	A Pilot Study of Shockwave Therapy in HSP
NCT05432999	Not specified	COMPLETED	Extracorporeal Shockwave Therapy for Spasticity in People With Spinal Cord Injury
NCT05613114	Not specified	COMPLETED	Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia
NCT05767268	Not specified	COMPLETED	Assessment of the Psychophysical State During Rehabilitation Treatment With Lokomat
NCT05848271	Not specified	RECRUITING	Natural History Study of Patients with HPDL Mutations
NCT06156813	Not specified	RECRUITING	Turkish Lower-Extremity Motor Activity Log (LE-MAL)
NCT06229626	Not specified	RECRUITING	Evaluation of an Intensive Training Program for Patients with Hereditary Spastic Paraparesis SPG4/Spast
NCT06260982	Not specified	UNKNOWN	Cognitive Disorders in Hereditary Spastic Paraplegia Type 4
NCT06553976	Not specified	RECRUITING	Spastic Paraplegia - Centers of Excellence Research Network
NCT06572046	Not specified	RECRUITING	STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
NCT06573866	Not specified	RECRUITING	Enhancement of Quality of Work And Life
NCT06680063	Not specified	COMPLETED	Correlation Between Clinical Assessment and Neurophysiological Assessment in Spinal Cord Injury