RAB5IF

Summary

RAB5IF (RAB5 interacting factor, HGNC:15870) is a protein-coding gene on chromosome 20q11.23, encoding GEL complex subunit OPTI (Q9BUV8). Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes.

Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane. Located in mitochondrion. Part of multi-pass translocon complex. Implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2.

Source: NCBI Gene 55969 — RefSeq curated summary.

At a glance

• Gene–disease (curated): craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 (Limited, GenCC)
• Clinical variants (ClinVar): 2 total
• Phenotypes (HPO): 11
• Druggable target: yes
• MANE Select transcript: NM_018840

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15870
Approved symbol	RAB5IF
Name	RAB5 interacting factor
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	PNAS-11, RIP5, RCAF1, OPTI
Ensembl gene	ENSG00000101084
Ensembl biotype	protein_coding
OMIM	619960
Entrez	55969

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000342422, ENST00000344795, ENST00000373852, ENST00000483815, ENST00000491113, ENST00000492721, ENST00000494506, ENST00000948725

RefSeq mRNA: 4 — MANE Select: NM_018840 NM_001199534, NM_001374178, NM_018840, NM_199483

CCDS: CCDS13279, CCDS13280, CCDS56190

Canonical transcript exons

ENST00000344795 — 4 exons

Exon	Start	End
ENSE00001900925	36605779	36606065
ENSE00003579946	36607715	36607818
ENSE00003581661	36609601	36609730
ENSE00003621737	36612010	36612557

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 99.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 106.9017 / max 1038.0155, expressed in 1828 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184445	102.7103	1828
184446	3.3033	1317
184444	0.8882	504

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.03	gold quality
monocyte	CL:0000576	98.87	gold quality
leukocyte	CL:0000738	98.85	gold quality
esophagus mucosa	UBERON:0002469	98.67	gold quality
granulocyte	CL:0000094	98.34	gold quality
blood	UBERON:0000178	98.30	gold quality
mucosa of transverse colon	UBERON:0004991	98.23	gold quality
gastrocnemius	UBERON:0001388	98.06	gold quality
bone marrow	UBERON:0002371	97.46	gold quality
muscle of leg	UBERON:0001383	97.34	gold quality
rectum	UBERON:0001052	97.20	gold quality
spleen	UBERON:0002106	97.09	gold quality
right lobe of liver	UBERON:0001114	97.07	gold quality
esophagus	UBERON:0001043	96.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.94	gold quality
skeletal muscle tissue	UBERON:0001134	96.71	gold quality
transverse colon	UBERON:0001157	96.61	gold quality
adult mammalian kidney	UBERON:0000082	96.55	gold quality
islet of Langerhans	UBERON:0000006	96.52	gold quality
bone marrow cell	CL:0002092	96.48	gold quality
minor salivary gland	UBERON:0001830	96.47	gold quality
vermiform appendix	UBERON:0001154	96.44	gold quality
liver	UBERON:0002107	96.41	gold quality
muscle tissue	UBERON:0002385	96.34	gold quality
upper lobe of left lung	UBERON:0008952	96.31	gold quality
right adrenal gland	UBERON:0001233	96.28	gold quality
duodenum	UBERON:0002114	96.26	gold quality
adrenal tissue	UBERON:0018303	96.25	gold quality
saliva-secreting gland	UBERON:0001044	96.24	gold quality
body of stomach	UBERON:0001161	96.18	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	870.81
E-HCAD-4	yes	42.09
E-MTAB-10855	no	412.41
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting RAB5IF, 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-3134	100.00	66.43	777
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-5697	99.39	67.74	1249
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-4272	98.76	68.74	1810

Literature-anchored findings (GeneRIF, showing 2)

• This protein seems to play a role in mitochondrial respirasome assembly and function and we propose to rename it as RCAF1 (Respirasome Complex Assembly Factor 1). (PMID:31536960)
• The Pivotal Role of Long Noncoding RNA RAB5IF in the Proliferation of Hepatocellular Carcinoma Via LGR5 Mediated beta-Catenin and c-Myc Signaling. (PMID:31717443)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab5if	ENSDARG00000074790
mus_musculus	Rab5if	ENSMUSG00000027637
rattus_norvegicus	Rab5if	ENSRNOG00000020317
drosophila_melanogaster	CG12107	FBGN0033209
caenorhabditis_elegans		WBGENE00018431

Protein

Protein identifiers

GEL complex subunit OPTI — Q9BUV8 (reviewed: Q9BUV8)

Alternative names: Obligate partner of TMCO1 insertase, Rab5-interacting protein, Respirasome Complex Assembly Factor 1

All UniProt accessions (1): Q9BUV8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes. The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions. Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane. In addition to its role in multi-pass membrane insertion, RAB5IF/OPTI also acts as an assembly factor for mitochondrial respiratory complexes.

Subunit / interactions. Component of the GET- and EMC-like (GEL) complex, composed of RAB5IF/OPTI and TMCO1. The GEL complex is part of the multi-pass translocon (MPT) complex, composed of three subcomplexes, the GEL complex (composed of RAB5IF/OPTI and TMCO1), the BOS complex (composed of NCLN/Nicalin, NOMO and TMEM147) and the PAT complex (composed of WDR83OS/Asterix and CCDC47). The MPT complex associates with the SEC61 complex. Interacts with NDUFS3, COXFA4, NDUFV1, NDUFA9 and NDUFS8 of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). Interacts with UQCRC2 of the ubiquinol-cytochrome c reductase complex (Complex III). Interacts with COX5A and COX7C of the cytochrome c oxidase complex (Complex IV).

Subcellular location. Endoplasmic reticulum membrane. Mitochondrion inner membrane.

Tissue specificity. Expressed in embryonic stem cells and differentiated neuronal cells.

Disease relevance. Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2 (CFSMR2) [MIM:616994] An autosomal recessive disorder characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech. The disease may be caused by variants affecting the gene represented in this entry. Loss of RAB5IF in fibroblasts from a CFSMR2 patient carrying RAB5IF variant p.Trp25ter and negative for TMCO1 pathogenic variants, is associated with lack of TMCO1 expression. This suggests a possible functional relation between the two proteins and involvement in a common disease mechanism.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the EMC6 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9BUV8-1	1	yes
Q9BUV8-2	2
Q9BUV8-3	3
Q9BUV8-4	4
Q9BUV8-5	5

RefSeq proteins (4): NP_001186463, NP_001361107, NP_061328, NP_955777 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010742	RCAF1	Family
IPR029008	EMC6-like	Family

Pfam: PF07019

UniProt features (19 total): sequence conflict 6, topological domain 4, splice variant 4, transmembrane region 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUV8-F1	71.99	0.00

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9864848	Complex IV assembly

MSigDB gene sets: 223 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, SP3_Q3, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, CCATCCA_MIR432, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GNF2_MYD88, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, NRF2_Q4, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE

GO Biological Process (2): mitochondrial respirasome assembly (GO:0097250), multi-pass transmembrane protein insertion into ER membrane (GO:0160063)

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

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), endoplasmic reticulum membrane (GO:0005789), multi-pass translocon complex (GO:0160064), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
intracellular membrane-bounded organelle	2
mitochondrion organization	1
mitochondrial respiratory chain complex assembly	1
protein insertion into ER membrane	1
binding	1
organelle inner membrane	1
mitochondrial membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
ER membrane insertion complex	1
endomembrane system	1
cellular anatomical structure	1

Protein interactions and networks

STRING

538 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB5IF	TBC1D31	Q96DN5	508
RAB5IF	RAB5A	P20339	481
RAB5IF	DHX35	Q9H5Z1	476
RAB5IF	GGT7	Q9UJ14	450
RAB5IF	MRGBP	Q9NV56	417
RAB5IF	ZHX3	Q9H4I2	415
RAB5IF	NOC4L	Q9BVI4	408
RAB5IF	GART	P22102	408
RAB5IF	NPIPB9	F8W1W9	396
RAB5IF	MT-ND2	P03891	395
RAB5IF	SACK1A	Q86UY5	395
RAB5IF	ADRM1	Q16186	372
RAB5IF	MT-ND6	P03923	371
RAB5IF	EMC6	Q9BV81	370
RAB5IF	MTRNR2L10	P0CJ77	359

IntAct

77 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
PDCD1	RTL8C	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
TMEM51	WWP2	psi-mi:“MI:0914”(association)	0.530
CMKLR1	SC5D	psi-mi:“MI:0914”(association)	0.530
env	PGRMC1	psi-mi:“MI:0914”(association)	0.460
RAB5IF	CHRM3	psi-mi:“MI:0915”(physical association)	0.370
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
CHCHD10	ACSL4	psi-mi:“MI:0914”(association)	0.350
PTPMT1	NDUFAB1	psi-mi:“MI:0914”(association)	0.350
BPNT1	LYN	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
MTMR2	LUC7L3	psi-mi:“MI:0914”(association)	0.350
TMCO1	PGRMC1	psi-mi:“MI:0914”(association)	0.350
TMED10	PGRMC1	psi-mi:“MI:0914”(association)	0.350
NCLN	PGRMC1	psi-mi:“MI:0914”(association)	0.350
TMEM74	KLRG2	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
BTNL9	GPR89A	psi-mi:“MI:0914”(association)	0.350
CMKLR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
TPST2	NDC80	psi-mi:“MI:0914”(association)	0.350
TPST2	GPC1	psi-mi:“MI:0914”(association)	0.350
VASN	DENND11	psi-mi:“MI:0914”(association)	0.350
RAB5IF	ATXN10	psi-mi:“MI:0915”(physical association)	0.000
RAB5IF	TNPO3	psi-mi:“MI:0915”(physical association)	0.000
RAB5IF		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (111): C20orf24 (Affinity Capture-RNA), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-MS), C20orf24 (Affinity Capture-RNA), C20orf24 (Affinity Capture-RNA)

ESM2 similar proteins: A0A8I3S9V6, A0M8U1, A6NH52, E1BWM5, O35089, P13666, P86050, Q00765, Q0VCK9, Q0X0A5, Q1RLU8, Q29S14, Q2PG42, Q3KNM2, Q3ZC24, Q5BJU5, Q5M7T4, Q5R9I4, Q5R9K4, Q5RE33, Q5T4T1, Q5ZJ41, Q5ZJD7, Q6DD32, Q6GM44, Q6NYF1, Q6P360, Q6PI25, Q7TQ48, Q86TD4, Q8C407, Q8L5Y9, Q8MK44, Q8R1Z9, Q91ZQ0, Q940S0, Q96GC9, Q99K70, Q99KU0, Q9BSR8

Diamond homologs: A0A8I3S9V6, Q9BUV8, Q9CQT9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

742 predictions. Top by Δscore:

Variant	Effect	Δscore
20:36606064:AGG:A	donor_loss	1.0000
20:36606065:GGTA:G	donor_loss	1.0000
20:36606066:GTACG:G	donor_loss	1.0000
20:36607712:CA:C	acceptor_loss	1.0000
20:36607712:CAG:C	acceptor_loss	1.0000
20:36607713:A:AG	acceptor_gain	1.0000
20:36607713:AGG:A	acceptor_loss	1.0000
20:36607714:G:GA	acceptor_gain	1.0000
20:36607714:G:T	acceptor_loss	1.0000
20:36607714:GGAT:G	acceptor_gain	1.0000
20:36607814:GCAGG:G	donor_gain	1.0000
20:36607817:GG:G	donor_gain	1.0000
20:36607818:GG:G	donor_gain	1.0000
20:36609665:G:GT	donor_gain	1.0000
20:36609698:G:GT	donor_gain	1.0000
20:36609699:A:T	donor_gain	1.0000
20:36609702:GGTT:G	donor_gain	1.0000
20:36606060:GA:G	donor_gain	0.9900
20:36607711:A:AG	acceptor_gain	0.9900
20:36607711:ACAG:A	acceptor_gain	0.9900
20:36607712:C:G	acceptor_gain	0.9900
20:36607713:AG:A	acceptor_gain	0.9900
20:36607713:AGGAT:A	acceptor_gain	0.9900
20:36607714:GG:G	acceptor_gain	0.9900
20:36607714:GGATG:G	acceptor_gain	0.9900
20:36607781:G:GT	donor_gain	0.9900
20:36607781:G:T	donor_gain	0.9900
20:36607815:CAGGG:C	donor_loss	0.9900
20:36607816:AGGG:A	donor_loss	0.9900
20:36607818:GGT:G	donor_loss	0.9900

AlphaMissense

837 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:36609701:G:A	G107R	1.000
20:36609701:G:C	G107R	1.000
20:36607722:T:C	F41S	0.999
20:36607758:C:A	A53D	0.999
20:36607769:G:C	G57R	0.999
20:36607770:G:A	G57D	0.999
20:36609602:T:C	F74L	0.999
20:36609604:C:A	F74L	0.999
20:36609604:C:G	F74L	0.999
20:36609605:T:C	C75R	0.999
20:36609616:T:A	N78K	0.999
20:36609616:T:G	N78K	0.999
20:36609690:T:A	L103H	0.999
20:36609690:T:C	L103P	0.999
20:36609697:G:C	K105N	0.999
20:36609697:G:T	K105N	0.999
20:36609701:G:T	G107W	0.999
20:36609702:G:A	G107E	0.999
20:36606054:T:A	W35R	0.998
20:36606054:T:C	W35R	0.998
20:36606056:G:C	W35C	0.998
20:36606056:G:T	W35C	0.998
20:36607725:T:C	L42S	0.998
20:36607736:T:G	Y46D	0.998
20:36607739:T:A	W47R	0.998
20:36607739:T:C	W47R	0.998
20:36607799:G:A	G67R	0.998
20:36607799:G:C	G67R	0.998
20:36607800:G:A	G67E	0.998
20:36609620:G:A	G80R	0.998

dbSNP variants (sampled 300 via entrez): RS1000014129 (20:36609297 G>A), RS1000139994 (20:36604693 C>G), RS1001014514 (20:36610467 C>T), RS1001032150 (20:36605725 T>A,C,G), RS1001048874 (20:36610239 G>A), RS1001472148 (20:36609921 C>A,G,T), RS1001807954 (20:36610206 C>T), RS1001832354 (20:36609987 T>C,G), RS1002420013 (20:36605212 A>G), RS1002929336 (20:36608050 A>C,G), RS1003471316 (20:36613032 A>G), RS1003475454 (20:36609231 A>C,G), RS1003506525 (20:36608945 A>C), RS1003567650 (20:36608645 C>CCT), RS1003676744 (20:36603803 C>T)

Disease associations

OMIM: gene MIM:619960 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	Limited	Autosomal recessive

Mondo (1): craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 (MONDO:0859567)

Orphanet (0):

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000369	Low-set ears
HP:0000470	Short neck
HP:0000767	Pectus excavatum
HP:0000914	Shield chest
HP:0001344	Absent speech
HP:0002389	Cavum septum pellucidum
HP:0002943	Thoracic scoliosis
HP:0010864	Severe intellectual disability
HP:0012368	Flat face
HP:0100336	Bilateral cleft lip

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066366 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.49	Kd	327.1	nM	CHEMBL5653589
6.49	ED50	327.1	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147970: Binding affinity to human C20orf24 incubated for 45 mins by Kinobead based pull down assay	kd	0.3271	uM

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	4
Valproic Acid	affects expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
Particulate Matter	decreases expression, decreases reaction	2
aristolochic acid I	increases expression	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
lead acetate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
chloropicrin	decreases expression	1
ICG 001	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
Vehicle Emissions	decreases expression, decreases reaction	1
Cadmium	increases abundance, increases expression	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	decreases methylation	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Xylitol	decreases expression	1
Isotretinoin	decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651012	Binding	Binding affinity to human C20orf24 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3FN	Abcam HEK293T RAB5IF KO	Transformed cell line	Female
CVCL_SG28	HAP1 C20orf24 (-) 1	Cancer cell line	Male
CVCL_XM29	HAP1 C20orf24 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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