ZNF354C

Summary

ZNF354C (zinc finger protein 354C, HGNC:16736) is a protein-coding gene on chromosome 5q35.3, encoding Zinc finger protein 354C (Q86Y25). Transcriptional repressor that inhibits endothelial angiogenic sprouting.

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific. Involved in negative regulation of sprouting angiogenesis. Located in cytoplasm; nuclear membrane; and nucleoplasm.

Source: NCBI Gene 30832 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 70 total
• Transcription factor: yes — 31 downstream targets (CollecTRI)
• MANE Select transcript: NM_014594

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16736
Approved symbol	ZNF354C
Name	zinc finger protein 354C
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	KID3
Ensembl gene	ENSG00000177932
Ensembl biotype	protein_coding
OMIM	619511
Entrez	30832

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000315475, ENST00000911394, ENST00000911395, ENST00000958527

RefSeq mRNA: 1 — MANE Select: NM_014594 NM_014594

CCDS: CCDS4443

Canonical transcript exons

ENST00000315475 — 5 exons

Exon	Start	End
ENSE00001254123	179077071	179077166
ENSE00001254134	179078683	179083977
ENSE00001336171	179062015	179062095
ENSE00001336174	179060373	179060666
ENSE00002451758	179076445	179076571

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 88.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.2019 / max 54.2742, expressed in 999 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60537	2.2019	999

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	88.62	gold quality
left ventricle myocardium	UBERON:0006566	86.92	gold quality
cortical plate	UBERON:0005343	86.64	gold quality
tibialis anterior	UBERON:0001385	84.50	silver quality
ganglionic eminence	UBERON:0004023	84.31	gold quality
calcaneal tendon	UBERON:0003701	83.52	gold quality
ventricular zone	UBERON:0003053	83.24	gold quality
tendon	UBERON:0000043	82.74	gold quality
deltoid	UBERON:0001476	82.34	silver quality
tendon of biceps brachii	UBERON:0008188	80.26	silver quality
upper arm skin	UBERON:0004263	79.75	gold quality
quadriceps femoris	UBERON:0001377	78.83	gold quality
kidney epithelium	UBERON:0004819	78.62	gold quality
medial globus pallidus	UBERON:0002477	78.30	gold quality
vastus lateralis	UBERON:0001379	77.95	gold quality
corpus callosum	UBERON:0002336	77.81	gold quality
myocardium	UBERON:0002349	77.52	gold quality
globus pallidus	UBERON:0001875	77.17	silver quality
inferior vagus X ganglion	UBERON:0005363	76.99	silver quality
subthalamic nucleus	UBERON:0001906	76.55	silver quality
cardia of stomach	UBERON:0001162	76.50	silver quality
endometrium	UBERON:0001295	76.24	gold quality
epithelial cell of pancreas	CL:0000083	75.99	gold quality
ileal mucosa	UBERON:0000331	75.75	gold quality
layer of synovial tissue	UBERON:0007616	75.31	silver quality
lateral nuclear group of thalamus	UBERON:0002736	74.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.83	silver quality
stromal cell of endometrium	CL:0002255	74.77	gold quality
muscle tissue	UBERON:0002385	74.66	gold quality
smooth muscle tissue	UBERON:0001135	74.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.36

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

31 targets.

Target	Regulation
ABCB1
ADAM2
AMER1
AMH
BCHE
BIN1
BMP2
CCL2
CCND2
CD44
CD8A
CDH1
CYP19A1
DLG4
EGFR
EGR2
FLT1
HBB
IL2
ITGAD
JUN
NCF2
NTRK1
PDGFRA
PTCH1
RBP3
RUNX2	Unknown
SLC2A4
SLC9A2
SPTA1

JASPAR motifs

Motif	Name	Family
MA0130.1	ZNF354C	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:15555547

Upstream regulators (CollecTRI, top): EGR3, ZNF398

miRNA regulators (miRDB)

131 targeting ZNF354C, 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-5011-5P	100.00	83.46	5820
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-153-5P	99.89	73.86	6317

Literature-anchored findings (GeneRIF, showing 3)

• cloning and characterization; results indicate that hKid3 may function as a transcription repressor with regulated expression pattern during human development of brain and kidney (PMID:15555547)
• The SNP rs1863918 in strong linkage disequilibrium with SNPs located around the Zinc finger 354C (ZNF354C) gene on chromosome 5 showed a significant association when the results of GWAS and replication were combined (odds ratio = 2.55, P = 7.89x10-8 in the allele frequency model), suggesting that the rs1863918 T allele was associated with IFN-induced depression. (PMID:27723809)
• ZNF354C is a transcriptional repressor that inhibits endothelial angiogenic sprouting. (PMID:33154469)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp354c	ENSMUSG00000044807
rattus_norvegicus	Zfp354c	ENSRNOG00000029205

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)

Protein

Protein identifiers

Zinc finger protein 354C — Q86Y25 (reviewed: Q86Y25)

Alternative names: Kidney, ischemia, and developmentally-regulated protein 3

All UniProt accessions (1): Q86Y25

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor that inhibits endothelial angiogenic sprouting. Suppresses osteogenic effects of RUNX2 and may be involved in osteoblastic differentiation. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal.

Subunit / interactions. Interacts with RUNX2. Binds consensus element OSE2. Interacts with TRIM28.

Subcellular location. Nucleus. Nucleus membrane. Cytoplasm.

Tissue specificity. Expressed in kidney and skeletal muscle. Very low expression in brain and heart. Strongly expressed in vascular cells such as umbilical vein endothelial cells, microvascular endothelial cells and aortic smooth muscle cells.

Domain organisation. KRAB domain is essential for transcriptional repressor activity and ability to inhibit endothelial angiogenic sprouting. Not required for nuclear targeting or for DNA binding. Zinc finger region is involved in nuclear targeting and DNA-binding.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_055409* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050331	Zinc_finger_PRDM4/PRDM1/PRDM14	Family

Pfam: PF00096, PF01352, PF13465

UniProt features (25 total): zinc finger region 11, cross-link 4, sequence variant 3, mutagenesis site 3, sequence conflict 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86Y25-F1	66.18	0.10

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 (4): 111, 167, 198, 531

Mutagenesis-validated functional residues (3):

Position	Phenotype
16–17	slight decrease in transcriptional repressor activity. loss of inhibition of endothelial sprouting.
25–26	slight decrease in transcriptional repressor activity. no effect on inhibition of endothelial sprouting.
41–43	loss of transcriptional repressor activity and inhibition of endothelial sprouting.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 102 (showing top): TAATAAT_MIR126, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_SPROUTING_ANGIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_SPROUTING_ANGIOGENESIS, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_REGULATION_OF_SPROUTING_ANGIOGENESIS, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, TGGAAA_NFAT_Q4_01, GOBP_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOCC_NUCLEAR_ENVELOPE, TCCCRNNRTGC_UNKNOWN, GOCC_NUCLEAR_MEMBRANE, GOBP_TUBE_MORPHOGENESIS

GO Biological Process (7): angiogenesis (GO:0001525), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of sprouting angiogenesis (GO:1903671), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), negative regulation of macromolecule biosynthetic process (GO:0010558), regulation of anatomical structure morphogenesis (GO:0022603)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear membrane (GO:0031965), membrane (GO:0016020), nuclear lumen (GO:0031981)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
nucleus	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
regulation of DNA-templated transcription	1
sprouting angiogenesis	1
negative regulation of angiogenesis	1
regulation of sprouting angiogenesis	1
negative regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
macromolecule biosynthetic process	1
negative regulation of biosynthetic process	1
regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule metabolic process	1
anatomical structure morphogenesis	1
regulation of developmental process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
nuclear envelope	1
organelle membrane	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

408 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF354C	TRIM28	Q13263	813
ZNF354C	HDAC6	Q9UBN7	650
ZNF354C	HOXA5	P20719	529
ZNF354C	RHOXF1	Q8NHV9	449
ZNF354C	LHX4	Q969G2	421
ZNF354C	NFIC	P08651	402
ZNF354C	ARID3A	Q99856	398
ZNF354C	NFE2L2	Q16236	383
ZNF354C	FOXL1	Q12952	372
ZNF354C	TLE3	Q04726	371
ZNF354C	ADAM29	Q9UKF5	364
ZNF354C	PITX1	P78337	353
ZNF354C	PRL	P01236	353
ZNF354C	SPIB	Q01892	353
ZNF354C	SCAI	Q8N9R8	353

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ZNF354C	IPO8	psi-mi:“MI:0914”(association)	0.530
ZNF354C	LRP4	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530

BioGRID (45): TRIM39 (Affinity Capture-MS), LRP4 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), ZNF888 (Affinity Capture-MS), TRIM28 (Affinity Capture-MS), CENPB (Affinity Capture-MS), IGHG2 (Affinity Capture-MS), S100A7 (Affinity Capture-MS), CALML3 (Affinity Capture-MS), SIRT1 (Affinity Capture-MS), CBX5 (Affinity Capture-MS), USP34 (Affinity Capture-MS), SERPINB4 (Affinity Capture-MS), IGHG1 (Affinity Capture-MS), IPO8 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4

Diamond homologs: A2A761, A2VDP4, A3KN32, A6QLU5, A6QPT6, A7MBI1, A8MT65, B4DU55, E9PYI1, O60765, O95780, P15622, P17014, P17032, P17098, P21506, P51508, P51814, P52736, P52738, P52742, Q02975, Q06730, Q06732, Q0VCB0, Q14587, Q16587, Q2KI58, Q2M3W8, Q3V080, Q49AA0, Q4R6C2, Q4V8A8, Q571J5, Q5HYK9, Q5JUW0, Q5JVG2, Q5MCW4, Q5MYW4, Q5R4K8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1318 predictions. Top by Δscore:

Variant	Effect	Δscore
5:179076569:TGGG:T	donor_loss	1.0000
5:179076570:GG:G	donor_gain	1.0000
5:179076570:GGGTA:G	donor_loss	1.0000
5:179076571:GG:G	donor_gain	1.0000
5:179076572:G:GG	donor_gain	1.0000
5:179076573:T:G	donor_loss	1.0000
5:179060663:CCAG:C	donor_loss	0.9900
5:179060664:CAGGT:C	donor_loss	0.9900
5:179060665:AGGTG:A	donor_loss	0.9900
5:179060667:GTG:G	donor_loss	0.9900
5:179062091:CTCAG:C	donor_loss	0.9900
5:179062094:AGGTG:A	donor_loss	0.9900
5:179062095:GGTGA:G	donor_loss	0.9900
5:179062096:GTGAG:G	donor_loss	0.9900
5:179062097:T:C	donor_loss	0.9900
5:179076568:CTGG:C	donor_gain	0.9900
5:179077063:A:AG	acceptor_gain	0.9900
5:179077064:T:G	acceptor_gain	0.9900
5:179077069:AG:A	acceptor_gain	0.9900
5:179077069:AGG:A	acceptor_gain	0.9900
5:179077070:GG:G	acceptor_gain	0.9900
5:179077070:GGG:G	acceptor_gain	0.9900
5:179077167:G:GA	donor_loss	0.9900
5:179077168:TAAG:T	donor_loss	0.9900
5:179062013:A:AG	acceptor_gain	0.9800
5:179062014:G:GG	acceptor_gain	0.9800
5:179076390:A:AG	acceptor_gain	0.9800
5:179076391:T:G	acceptor_gain	0.9800
5:179076567:ACTGG:A	donor_gain	0.9800
5:179076569:TGG:T	donor_gain	0.9800

AlphaMissense

3717 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:179079861:T:C	F477L	0.997
5:179079863:C:A	F477L	0.997
5:179079863:C:G	F477L	0.997
5:179079273:T:C	F281L	0.996
5:179079275:T:A	F281L	0.996
5:179079275:T:G	F281L	0.996
5:179079357:T:C	F309L	0.995
5:179079359:T:A	F309L	0.995
5:179079359:T:G	F309L	0.995
5:179079777:T:C	F449L	0.995
5:179079779:T:A	F449L	0.995
5:179079779:T:G	F449L	0.995
5:179079189:T:C	F253L	0.994
5:179079191:C:A	F253L	0.994
5:179079191:C:G	F253L	0.994
5:179079441:T:C	F337L	0.992
5:179079443:C:A	F337L	0.992
5:179079443:C:G	F337L	0.992
5:179076469:G:C	A18P	0.990
5:179079808:A:C	Q459P	0.990
5:179079208:T:C	L259P	0.989
5:179079292:T:C	L287P	0.989
5:179079693:T:C	F421L	0.989
5:179079695:C:A	F421L	0.989
5:179079695:C:G	F421L	0.989
5:179079609:T:C	F393L	0.988
5:179079611:C:A	F393L	0.988
5:179079611:C:G	F393L	0.988
5:179079220:A:C	Q263P	0.986
5:179079806:T:A	H458Q	0.986

dbSNP variants (sampled 300 via entrez): RS1000084458 (5:179074952 A>C), RS1000478750 (5:179079872 T>C), RS1000553549 (5:179069640 T>C,G), RS1000560800 (5:179074619 T>C), RS1000818171 (5:179079476 A>G), RS1000869686 (5:179075100 T>C,G), RS1000945995 (5:179075215 C>T), RS1001078329 (5:179062990 G>A), RS1001219123 (5:179081403 A>G,T), RS1001419555 (5:179077979 G>A,T), RS1001482916 (5:179076228 C>T), RS1001499182 (5:179068281 C>T), RS1001548551 (5:179070823 T>C,G), RS1001630788 (5:179071640 C>T), RS1001643393 (5:179071028 T>C)

Disease associations

OMIM: gene MIM:619511 | disease phenotypes: MIM:225410, MIM:105550, MIM:602080, MIM:117550

GenCC curated gene-disease

Mondo (4): Ehlers-Danlos syndrome, dermatosparaxis type (MONDO:0009161), frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (MONDO:0007105), Paget disease of bone 2, early-onset (MONDO:0011183), Sotos syndrome (MONDO:0019349)

Orphanet (3): Dermatosparaxis Ehlers-Danlos syndrome (Orphanet:1901), Frontotemporal dementia with motor neuron disease (Orphanet:275872), Sotos syndrome (Orphanet:821)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003824_2	Depression in response to interferon-based therapy in chronic hepatitis C	8.000000e-08
GCST007294_118	Body fat distribution (trunk fat ratio)	1.000000e-17
GCST007294_78	Body fat distribution (trunk fat ratio)	7.000000e-18
GCST007295_174	Body fat distribution (leg fat ratio)	3.000000e-14
GCST007295_42	Body fat distribution (leg fat ratio)	2.000000e-14
GCST012297_10	Schizophrenia, bipolar disorder or major depressive disorder	2.000000e-06
GCST012300_4	Schizophrenia, bipolar disorder or major depressive disorder	5.000000e-07
GCST90020024_945	A body shape index	2.000000e-08
GCST90020029_1509	Waist circumference adjusted for body mass index	1.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007006	depressive symptom measurement
EFO:0007859	response to interferon
EFO:0004341	body fat distribution
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D058495	Sotos Syndrome	C16.131.077.889; C16.131.260.905; C16.320.180.905
C567527	Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
TAK-243	increases sumoylation	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	decreases expression	1
trichostatin A	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	decreases expression	1
Sunitinib	increases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Hydralazine	increases expression, affects cotreatment	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_HD23	HEK293 eGFP-ZNF354C	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02964637	Not specified	RECRUITING	Diagnosing Frontotemporal Lobar Degeneration
NCT06051123	Not specified	RECRUITING	Effects of Probiotics in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia Spectrum Disorder (ALS-FTDSD) Patients
NCT04993235	Not specified	UNKNOWN	Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development