RMND5B

Summary

RMND5B (required for meiotic nuclear division 5 homolog B, HGNC:26181) is a protein-coding gene on chromosome 5q35.3, encoding E3 ubiquitin-protein transferase RMND5B (Q96G75). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1.

Predicted to enable ubiquitin protein ligase activity and zinc ion binding activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol.

Source: NCBI Gene 64777 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_022762

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26181
Approved symbol	RMND5B
Name	required for meiotic nuclear division 5 homolog B
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22318, GID2, GID2B
Ensembl gene	ENSG00000145916
Ensembl biotype	protein_coding
Entrez	64777

Gene structure

Transcript identifiers

Ensembl transcripts: 45 — 39 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000313386, ENST00000502814, ENST00000507457, ENST00000507575, ENST00000507937, ENST00000508647, ENST00000512663, ENST00000512811, ENST00000513162, ENST00000515098, ENST00000515360, ENST00000542098, ENST00000890008, ENST00000890009, ENST00000890010, ENST00000890011, ENST00000890012, ENST00000890013, ENST00000890014, ENST00000890015, ENST00000890016, ENST00000890017, ENST00000890018, ENST00000890019, ENST00000890020, ENST00000940695, ENST00000940696, ENST00000940697, ENST00000940698, ENST00000940699, ENST00000940700, ENST00000940701, ENST00000940702, ENST00000940703, ENST00000940704, ENST00000949843, ENST00000949844, ENST00000949845, ENST00000949846, ENST00000949847, ENST00000949848, ENST00000949849, ENST00000949850, ENST00000949851, ENST00000949852

RefSeq mRNA: 3 — MANE Select: NM_022762 NM_001288794, NM_001288795, NM_022762

CCDS: CCDS4431, CCDS75382

Canonical transcript exons

ENST00000313386 — 11 exons

Exon	Start	End
ENSE00001021501	178131237	178131376
ENSE00001369432	178147969	178150568
ENSE00002024404	178131014	178131054
ENSE00003481209	178143627	178143727
ENSE00003485257	178146114	178146279
ENSE00003491258	178142852	178142992
ENSE00003565715	178142583	178142728
ENSE00003577204	178143942	178144108
ENSE00003577478	178138108	178138258
ENSE00003598669	178147533	178147635
ENSE00003686173	178147729	178147883

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 97.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5374 / max 135.7269, expressed in 1759 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60517	8.0904	1748
60518	1.0944	527
60519	0.3525	162

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	97.63	gold quality
left testis	UBERON:0004533	97.06	gold quality
right testis	UBERON:0004534	96.90	gold quality
esophagus mucosa	UBERON:0002469	95.67	gold quality
testis	UBERON:0000473	94.83	gold quality
apex of heart	UBERON:0002098	94.00	gold quality
esophagus	UBERON:0001043	93.64	gold quality
gastrocnemius	UBERON:0001388	93.04	gold quality
muscle of leg	UBERON:0001383	92.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.85	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.72	gold quality
lower esophagus	UBERON:0013473	91.49	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.47	gold quality
prefrontal cortex	UBERON:0000451	91.26	gold quality
epithelium of esophagus	UBERON:0001976	91.09	gold quality
skin of leg	UBERON:0001511	91.05	gold quality
adenohypophysis	UBERON:0002196	91.04	gold quality
ectocervix	UBERON:0012249	91.02	gold quality
popliteal artery	UBERON:0002250	91.01	gold quality
mucosa of transverse colon	UBERON:0004991	91.01	gold quality
tibial artery	UBERON:0007610	91.00	gold quality
thoracic aorta	UBERON:0001515	90.98	gold quality
ascending aorta	UBERON:0001496	90.96	gold quality
aorta	UBERON:0000947	90.92	gold quality
esophagus squamous epithelium	UBERON:0006920	90.91	gold quality
right adrenal gland	UBERON:0001233	90.90	gold quality
body of stomach	UBERON:0001161	90.82	gold quality
skin of abdomen	UBERON:0001416	90.80	gold quality
right adrenal gland cortex	UBERON:0035827	90.73	gold quality
right frontal lobe	UBERON:0002810	90.65	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.28
E-CURD-112	yes	3.73
E-GEOD-86618	no	87.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting RMND5B, 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-3065-5P	99.97	71.56	3281
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-6771-3P	98.20	66.53	971
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-4287	97.55	67.24	1247
HSA-MIR-4685-3P	97.55	67.35	1255
HSA-MIR-5089-3P	97.50	67.82	758
HSA-MIR-194-3P	97.36	65.96	1027

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rmnd5b	ENSDARG00000043359
mus_musculus	Rmnd5b	ENSMUSG00000001054
rattus_norvegicus	Rmnd5b	ENSRNOG00000047396
drosophila_melanogaster	Sou	FBGN0034573
caenorhabditis_elegans		WBGENE00020301

Paralogs (2): MAEA (ENSG00000090316), RMND5A (ENSG00000153561)

Protein

Protein identifiers

E3 ubiquitin-protein transferase RMND5B — Q96G75 (reviewed: Q96G75)

Alternative names: Protein RMD5 homolog B

All UniProt accessions (7): D6R9A2, D6RER3, D6RFE6, D6RFK1, Q96G75, D6RIF9, F5H6G4

UniProt curated annotations — full annotation on UniProt →

Function. Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. Catalytic activity of the complex is required for normal cell proliferation. The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1.

Subunit / interactions. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles.

Subcellular location. Cytoplasm. Cytosol.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96G75-1	1	yes
Q96G75-2	2

RefSeq proteins (3): NP_001275723, NP_001275724, NP_073599* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006594	LisH	Conserved_site
IPR006595	CTLH_C	Domain
IPR013144	CRA_dom	Domain
IPR024964	CTLH/CRA	Domain
IPR027370	Znf-RING_euk	Domain
IPR037681	RMD5B_dRING	Domain
IPR044063	ZF_RING_GID	Domain
IPR045098	Fyv10_fam	Family

Pfam: PF10607, PF13445

UniProt features (6 total): domain 2, chain 1, zinc finger region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96G75-F1	90.58	0.69

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9861718	Regulation of pyruvate metabolism
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-70268	Pyruvate metabolism

MSigDB gene sets: 165 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, MUELLER_PLURINET, GCM_DDX11, DOUGLAS_BMI1_TARGETS_DN, NRF2_01, GCM_NF2, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, REACTOME_PYRUVATE_METABOLISM, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOBP_PROTEOLYSIS

GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

GO Molecular Function (6): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), GID complex (GO:0034657)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Pyruvate metabolism	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
ubiquitin ligase complex	1

Protein interactions and networks

STRING

518 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RMND5B	ARMC8	Q8IUR7	894
RMND5B	GID4	Q8IVV7	840
RMND5B	WDR26	Q9H7D7	836
RMND5B	GID8	Q9NWU2	776
RMND5B	RANBP10	Q6VN20	716
RMND5B	YPEL5	P62699	676
RMND5B	MKLN1	Q9UL63	665
RMND5B	UBE2H	P37286	645
RMND5B	MAEA	Q7L5Y9	577
RMND5B	RANBP9	Q96S59	569
RMND5B	UBE2D2	P51669	554
RMND5B	SCFD1	Q8WVM8	534
RMND5B	RNF150	Q9ULK6	514
RMND5B	TACC2	O95359	447
RMND5B	ZMYND19	Q96E35	424

IntAct

74 interactions, top by confidence:

A	B	Type	Score
ARMC8	HTRA2	psi-mi:“MI:0914”(association)	0.750
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
GID8	HTRA2	psi-mi:“MI:0914”(association)	0.610
RMND5B	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
TARDBP	RMND5B	psi-mi:“MI:0915”(physical association)	0.560
PRG3	ZNF324	psi-mi:“MI:0914”(association)	0.530
PIGT	ZNF609	psi-mi:“MI:0914”(association)	0.530
BMP1	TLL1	psi-mi:“MI:0914”(association)	0.530
EMILIN3	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
INSL6	MYCBP2	psi-mi:“MI:0914”(association)	0.530
GNLY	YPEL5	psi-mi:“MI:0914”(association)	0.530
MAEA	HTRA2	psi-mi:“MI:0914”(association)	0.510
RMND5B	PSMA7	psi-mi:“MI:0914”(association)	0.510
RMND5B	UBE2D2	psi-mi:“MI:0915”(physical association)	0.370
RMND5B	UBE2D3	psi-mi:“MI:0915”(physical association)	0.370
UBE2D4	RMND5B	psi-mi:“MI:0915”(physical association)	0.370
UBE2E1	RMND5B	psi-mi:“MI:0915”(physical association)	0.370
UBE2E3	RMND5B	psi-mi:“MI:0915”(physical association)	0.370
RMND5B	UBE2W	psi-mi:“MI:0915”(physical association)	0.370
RMND5B	CDK9	psi-mi:“MI:0915”(physical association)	0.370
SMAD4	RMND5B	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (63): RMND5B (Affinity Capture-MS), RMND5B (Two-hybrid), RMND5B (Affinity Capture-MS), RMND5B (Affinity Capture-MS), RMND5B (Affinity Capture-MS), RMND5B (Affinity Capture-MS), RMND5B (Affinity Capture-MS), MAEA (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), PGRMC2 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), RANBP9 (Affinity Capture-MS), WDR26 (Affinity Capture-MS), PSMD6 (Affinity Capture-MS), UCK2 (Affinity Capture-MS)

ESM2 similar proteins: A2AWP8, A2RSQ0, A5PJM7, A6QL63, D4ABL6, E9PTA2, F1LTE0, O60941, O94759, P42229, P42231, P84060, Q29RM4, Q32PF0, Q3UFK8, Q3UMR5, Q4R4U1, Q4V8I4, Q5R5F8, Q5R5M3, Q5T6S3, Q5ZJA4, Q68FF6, Q6DDJ3, Q6DFV5, Q6DJB3, Q6GQW0, Q6ZN54, Q6ZPY2, Q6ZUT9, Q7T0P6, Q7Z6G3, Q8CIQ7, Q8CIW5, Q8IZD9, Q8TBP0, Q8VCX6, Q91YD4, Q923S8, Q96G75

Diamond homologs: Q640V2, Q6GLP4, Q80YQ8, Q91YQ7, Q96G75, Q9H871, Q9T075, O59668, Q11072

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RMND5B	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 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
Regulation of pyruvate metabolism	7	75.4×	8e-10
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	5	34.8×	5e-05
Antigen processing: Ubiquitination & Proteasome degradation	10	7.0×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein K11-linked ubiquitination	5	29.2×	1e-04
protein K48-linked ubiquitination	7	17.6×	3e-05
protein polyubiquitination	6	10.3×	2e-03
proteasome-mediated ubiquitin-dependent protein catabolic process	11	8.6×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1702 predictions. Top by Δscore:

Variant	Effect	Δscore
5:178131363:TCGG:T	donor_gain	1.0000
5:178131366:G:GT	donor_gain	1.0000
5:178142989:CCAGG:C	donor_loss	1.0000
5:178142990:CAGG:C	donor_loss	1.0000
5:178142991:AGGTA:A	donor_loss	1.0000
5:178142993:GTAC:G	donor_loss	1.0000
5:178142994:T:A	donor_loss	1.0000
5:178143622:TGTAG:T	acceptor_loss	1.0000
5:178143623:GTAGG:G	acceptor_loss	1.0000
5:178143624:TAGG:T	acceptor_loss	1.0000
5:178143625:AGG:A	acceptor_loss	1.0000
5:178143690:G:GT	donor_gain	1.0000
5:178143725:GGA:G	donor_gain	1.0000
5:178143726:GA:G	donor_gain	1.0000
5:178143726:GAG:G	donor_gain	1.0000
5:178143728:G:GG	donor_gain	1.0000
5:178143733:G:GT	donor_gain	1.0000
5:178143940:A:AG	acceptor_gain	1.0000
5:178143940:AGAT:A	acceptor_gain	1.0000
5:178143940:AGATG:A	acceptor_gain	1.0000
5:178143941:G:GG	acceptor_gain	1.0000
5:178143941:GA:G	acceptor_gain	1.0000
5:178143941:GAT:G	acceptor_gain	1.0000
5:178143941:GATG:G	acceptor_gain	1.0000
5:178143941:GATGG:G	acceptor_gain	1.0000
5:178144065:C:G	donor_gain	1.0000
5:178144104:GCGGG:G	donor_gain	1.0000
5:178144106:GGG:G	donor_gain	1.0000
5:178144106:GGGGT:G	donor_loss	1.0000
5:178144107:GG:G	donor_gain	1.0000

AlphaMissense

2561 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:178147777:T:C	C338R	1.000
5:178147778:G:A	C338Y	1.000
5:178147779:C:G	C338W	1.000
5:178147784:T:A	I340N	1.000
5:178147784:T:C	I340T	1.000
5:178147789:C:A	R342S	1.000
5:178147817:C:A	P351H	1.000
5:178147826:T:C	L354P	1.000
5:178147831:T:C	C356R	1.000
5:178147832:G:A	C356Y	1.000
5:178147837:C:G	H358D	1.000
5:178147839:T:A	H358Q	1.000
5:178147839:T:G	H358Q	1.000
5:178147844:T:A	I360N	1.000
5:178147847:C:T	S361F	1.000
5:178147973:A:G	K375E	1.000
5:178147975:G:C	K375N	1.000
5:178147975:G:T	K375N	1.000
5:178147976:T:A	C376S	1.000
5:178147976:T:C	C376R	1.000
5:178147977:G:C	C376S	1.000
5:178147985:T:C	C379R	1.000
5:178142683:G:C	K80N	0.999
5:178142683:G:T	K80N	0.999
5:178142714:A:G	K91E	0.999
5:178142716:A:C	K91N	0.999
5:178142716:A:T	K91N	0.999
5:178142949:T:C	L128P	0.999
5:178143943:T:A	W177R	0.999
5:178143943:T:C	W177R	0.999

dbSNP variants (sampled 300 via entrez): RS1000026529 (5:178138604 T>C), RS1000054862 (5:178137509 G>C), RS1000097282 (5:178144980 T>G), RS1000122032 (5:178131046 C>A,T), RS1000179599 (5:178132041 G>A), RS1000188177 (5:178150382 CTATT>C), RS1000223143 (5:178147620 C>T), RS1000430064 (5:178130838 G>A), RS1000634453 (5:178144677 C>T), RS1000904262 (5:178143764 T>A,C), RS1000963791 (5:178137206 G>A,C), RS1001022910 (5:178140214 C>A,T), RS1001225827 (5:178146471 G>A), RS1001229689 (5:178146129 T>C), RS1001236970 (5:178133464 T>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:127550, MIM:224230, MIM:613987

GenCC curated gene-disease

Mondo (3): dyskeratosis congenita (MONDO:0015780), dyskeratosis congenita, autosomal recessive 1 (MONDO:0009136), dyskeratosis congenita, autosomal recessive 2 (MONDO:0013519)

Orphanet (1): Dyskeratosis congenita (Orphanet:1775)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D019871	Dyskeratosis Congenita	C15.378.190.223.500.750; C16.131.831.150; C16.320.322.108; C16.320.850.235; C17.800.804.150; C17.800.827.235
C565611	Dyskeratosis Congenita, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Cyclosporine	increases expression	2
GSK-J4	decreases expression	1
sodium arsenite	increases abundance, affects cotreatment, decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Acrolein	affects cotreatment, decreases expression	1
Calcitriol	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Ozone	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	affects cotreatment, increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_D8G7	Ubigene H1 RMND5B KO	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004787	PHASE2	COMPLETED	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT01659606	PHASE2	ACTIVE_NOT_RECRUITING	Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
NCT03579875	PHASE2	RECRUITING	Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT04232085	PHASE2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT04638517	PHASE2	TERMINATED	The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT06477614	PHASE1	RECRUITING	Anti-cancer DC Cell Vaccination to Treat Solid Tumors
NCT06817590	PHASE1	RECRUITING	Nucleoside Therapy in Patients With Telomere Biology Disorders
NCT00455312	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
NCT01001598	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00499070	Not specified	COMPLETED	Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT02162420	Not specified	COMPLETED	Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT04959188	Not specified	COMPLETED	Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)
NCT06731036	Not specified	AVAILABLE	Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts