RAB34

Summary

RAB34 (RAB34, member RAS oncogene family, HGNC:16519) is a protein-coding gene on chromosome 17q11.2, encoding Ras-related protein Rab-34, isoform NARR (P0DI83).

This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame.

Source: NCBI Gene 83871 — RefSeq curated summary.

At a glance

• Gene–disease (curated): orofaciodigital syndrome 20 (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 58 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 32
• MANE Select transcript: NM_031934

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16519
Approved symbol	RAB34
Name	RAB34, member RAS oncogene family
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	RAB39, RAH, NARR
Ensembl gene	ENSG00000109113
Ensembl biotype	protein_coding
OMIM	610917
Entrez	83871

Gene structure

Transcript identifiers

Ensembl transcripts: 70 — 62 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay

ENST00000301043, ENST00000353676, ENST00000395243, ENST00000395245, ENST00000412625, ENST00000415040, ENST00000419712, ENST00000422279, ENST00000430132, ENST00000436730, ENST00000450529, ENST00000453384, ENST00000474704, ENST00000481501, ENST00000482688, ENST00000483554, ENST00000484161, ENST00000496866, ENST00000580843, ENST00000582934, ENST00000583538, ENST00000625712, ENST00000636154, ENST00000636513, ENST00000636534, ENST00000636772, ENST00000892087, ENST00000892088, ENST00000892089, ENST00000892090, ENST00000892091, ENST00000892092, ENST00000892093, ENST00000892094, ENST00000892095, ENST00000892096, ENST00000892097, ENST00000892098, ENST00000892099, ENST00000892100, ENST00000892101, ENST00000924443, ENST00000924444, ENST00000924445, ENST00000924446, ENST00000924447, ENST00000924448, ENST00000924450, ENST00000924451, ENST00000924452, ENST00000924453, ENST00000924454, ENST00000924455, ENST00000924456, ENST00000924457, ENST00000924458, ENST00000924459, ENST00000924460, ENST00000924461, ENST00000959029, ENST00000959030, ENST00000959031, ENST00000959032, ENST00000959033, ENST00000959034, ENST00000959035, ENST00000959036, ENST00000959037, ENST00000959038, ENST00000959039

RefSeq mRNA: 9 — MANE Select: NM_031934 NM_001142624, NM_001142625, NM_001144942, NM_001144943, NM_001256276, NM_001256277, NM_001256278, NM_001256281, NM_031934

CCDS: CCDS11240, CCDS45636, CCDS54101, CCDS58536, CCDS82096

Canonical transcript exons

ENST00000395245 — 10 exons

Exon	Start	End
ENSE00000707019	28715195	28715276
ENSE00003567250	28714793	28714900
ENSE00003654024	28715456	28715507
ENSE00003785486	28716903	28716994
ENSE00003791871	28714284	28714710
ENSE00003794000	28715800	28715901
ENSE00003795189	28717213	28717868
ENSE00003797839	28715641	28715705
ENSE00003800732	28715032	28715122
ENSE00003890092	28715993	28716058

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 98.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.8163 / max 279.2795, expressed in 1587 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165063	30.5019	1570
165060	11.4834	1294
165061	6.1964	1362
165058	2.1882	897
165059	1.7292	862
165056	1.6146	891
165065	0.6181	238
165057	0.3621	197
165066	0.3550	125
165064	0.3181	103

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
descending thoracic aorta	UBERON:0002345	98.60	gold quality
left ovary	UBERON:0002119	98.59	gold quality
right ovary	UBERON:0002118	98.57	gold quality
stromal cell of endometrium	CL:0002255	98.50	gold quality
endocervix	UBERON:0000458	98.42	gold quality
thoracic aorta	UBERON:0001515	98.42	gold quality
ascending aorta	UBERON:0001496	98.40	gold quality
mucosa of stomach	UBERON:0001199	98.39	gold quality
body of uterus	UBERON:0009853	98.36	gold quality
right coronary artery	UBERON:0001625	98.35	gold quality
left uterine tube	UBERON:0001303	98.28	gold quality
aorta	UBERON:0000947	98.15	gold quality
popliteal artery	UBERON:0002250	98.00	gold quality
tibial artery	UBERON:0007610	98.00	gold quality
smooth muscle tissue	UBERON:0001135	97.91	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.88	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.83	gold quality
lower esophagus	UBERON:0013473	97.81	gold quality
left adrenal gland cortex	UBERON:0035825	97.77	gold quality
left coronary artery	UBERON:0001626	97.73	gold quality
coronary artery	UBERON:0001621	97.64	gold quality
right adrenal gland	UBERON:0001233	97.62	gold quality
ectocervix	UBERON:0012249	97.62	gold quality
right adrenal gland cortex	UBERON:0035827	97.61	gold quality
tibial nerve	UBERON:0001323	97.58	gold quality
adrenal cortex	UBERON:0001235	97.57	gold quality
left adrenal gland	UBERON:0001234	97.54	gold quality
right lobe of thyroid gland	UBERON:0001119	97.45	gold quality
right uterine tube	UBERON:0001302	97.45	gold quality
metanephros cortex	UBERON:0010533	97.44	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	67.89
E-HCAD-10	yes	36.64
E-HCAD-13	yes	24.42
E-MTAB-5061	yes	10.95
E-MTAB-8271	yes	7.86
E-CURD-10	no	287.96
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NKX2-2

miRNA regulators (miRDB)

45 targeting RAB34, 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-9-5P	100.00	72.28	2361
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-454-3P	99.91	74.01	1925
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-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-766-5P	99.47	67.91	2225

Literature-anchored findings (GeneRIF, showing 18)

• The data together indicate that RILP, as already demonstrated for several other Rab effector proteins, is capable of self-association, thus probably forming a homo-dimer. (PMID:15996637)
• Data suggest that diacylglycerol-activated hmunc13 serves as an effector of Rab34, mediating lysosome-Golgi trafficking. (PMID:16138900)
• define Rab34 as a novel member of the secretory pathway acting at the Golgi (PMID:17881736)
• B coxsackievirus entry depends on occludin and require the activity of Rab34, Ras, and Rab5, GTPases known to regulate macropinocytosis. (PMID:18005733)
• mechanistic basis for high glucose-induced protein secretion is through interaction of munc13 and rab34, indicating a potentially critical role for this newly described pathway in the pathogenesis of DN. (PMID:19641095)
• Rab36 may regulate the spatial distribution of late endosomes and lysosomes through a similar mechanism to Rab34. (PMID:19961360)
• NARR is ubiquitously expressed and resides in nucleoli where it colocalizes with ribosomal DNA gene clusters. (PMID:21586586)
• Although Rab34 regulates both lysosomal positioning and lysosome to phagosome fusion, the latter effect is not due to the regulation of the cytoplasmic accessibility of lysosomes to phagosomes by Rab34. (PMID:23871933)
• MMP19 were positively correlated with RAB34. (PMID:25501506)
• Rab34 activity is modulated by SopD2 and is required for maturation of the Salmonella containing vacuole. (PMID:28185347)
• The present study demonstrated that RAB34 plays an important role in the initiation and progression of hepatocellular carcinoma (HCC). Our results suggest a new therapeutic target for the clinical treatment of HCC. (PMID:29048615)
• Silencing Rab34 by shRNA inhibits cell migration, invasion, and adhesion of breast cancer cells. (PMID:29622794)
• Authors demonstrate that endocytic recycling protein Rab34 localizes to cilia, and that its mutation results in significant decrease of ciliogenesis in both cultured cells and mice. Rab34 is required for the successive fusion of preciliary vesicles to generate ciliary vesicles and for the migration of the mother centriole from perinuclear region to plasma membrane. (PMID:30301781)
• A comprehensive analysis of Rab GTPases reveals a role for Rab34 in serum starvation-induced primary ciliogenesis. (PMID:32669361)
• Rab34 GTPase mediates ciliary membrane formation in the intracellular ciliogenesis pathway. (PMID:33989527)
• Rab34 plays a critical role as a bidirectional regulator of osteoclastogenesis. (PMID:35285960)
• Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome. (PMID:37384395)
• Localization, traffic and function of Rab34 in adipocyte lipid and endocrine functions. (PMID:38183057)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab34a	ENSDARG00000045628
mus_musculus	Rab34	ENSMUSG00000002059
rattus_norvegicus	Rab34	ENSRNOG00000023375

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)

Protein

Protein identifiers

Ras-related protein Rab-34, isoform NARR — P0DI83 (reviewed: P0DI83, Q9BZG1)

Alternative names: Nine amino-acid residue-repeats

All UniProt accessions (15): P0DI83, Q9BZG1, A0A1B0GTQ2, A0A1B0GVI6, A0A1B0GWB1, A0A1C7CYW6, C9JBG0, C9JY26, E7ES60, H7C0Y7, J3QLC6, K7EIF2, K7EJW7, Q96PJ7, V9GY61

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. May interact with EIF5A and ERF1.

Subcellular location. Nucleus. Nucleolus.

Post-translational modifications. Phosphorylated during M-phase.

Isoforms (4)

UniProt ID	Names	Canonical?
P0DI83-1	NARR	yes
Q9BZG1-1	1
Q9BZG1-2	2
Q9BZG1-4	4

RefSeq proteins (9): NP_001136096, NP_001136097, NP_001138414, NP_001138415, NP_001243205, NP_001243206, NP_001243207, NP_001243210, NP_114140* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR050227	Rab	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (60 total): binding site 15, repeat 13, modified residue 9, sequence variant 6, region of interest 3, compositionally biased region 3, chain 2, short sequence motif 2, lipid moiety-binding region 2, splice variant 2, sequence conflict 2, initiator methionine 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DI83-F1	46.94	0.00
AF-Q9BZG1-F1	86.35	0.70

Functional residue map

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

P0DI83 (canonical)

Post-translational modifications (6): 13, 69, 78, 87, 96, 123

Q9BZG1

Ligand- & substrate-binding residues (15): 81; 84; 84; 107; 110; 167; 169; 198; 62; 63; 64; 65 …

Post-translational modifications (5): 1, 241, 244, 257, 258

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 327 (showing top): CREL_01, GOBP_PINOCYTOSIS, GOBP_VACUOLE_ORGANIZATION, GOBP_VESICLE_ORGANIZATION, SP3_Q3, GOBP_MEMBRANE_FUSION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_RUFFLE, GOMF_GTPASE_BINDING, CHANDRAN_METASTASIS_DN, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, chr17q11, GOCC_MICROTUBULE_ORGANIZING_CENTER, BRUECKNER_TARGETS_OF_MIRLET7A3_DN

GO Biological Process (11): antigen processing and presentation (GO:0019882), lysosome localization (GO:0032418), Golgi to plasma membrane protein transport (GO:0043001), positive regulation of smoothened signaling pathway (GO:0045880), cilium assembly (GO:0060271), cytosolic ciliogenesis (GO:0061824), protein localization to plasma membrane (GO:0072659), phagosome maturation (GO:0090382), phagosome-lysosome fusion (GO:0090385), protein transport (GO:0015031), cell projection organization (GO:0030030)

GO Molecular Function (9): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GTP-dependent protein binding (GO:0030742), small GTPase binding (GO:0031267), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (19): nucleolus (GO:0005730), Golgi apparatus (GO:0005794), Golgi stack (GO:0005795), centrosome (GO:0005813), centriole (GO:0005814), cilium (GO:0005929), phagocytic vesicle membrane (GO:0030670), vesicle (GO:0031982), Golgi cisterna (GO:0031985), phagocytic vesicle (GO:0045335), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), Golgi membrane (GO:0000139), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membraneless organelle	3
cytoplasm	3
phagolysosome assembly	2
intracellular membrane-bounded organelle	2
Golgi apparatus subcompartment	2
microtubule organizing center	2
membrane-bounded organelle	2
immune system process	1
vacuolar localization	1
Golgi to plasma membrane transport	1
protein transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cilium assembly	1
protein localization to membrane	1
protein localization to cell periphery	1
exocytosis	1
organelle organization	1
vesicle fusion	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
cellular component organization	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

19 interactions, top by confidence:

A	B	Type	Score
GPC3	CLGN	psi-mi:“MI:0914”(association)	0.530
RAB34	NME2P1	psi-mi:“MI:0915”(physical association)	0.400
Zbtb48	VWA8	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
E	RAB34	psi-mi:“MI:0914”(association)	0.350
RYBP	PIPSL	psi-mi:“MI:0914”(association)	0.350
TGFA	TNPO2	psi-mi:“MI:0914”(association)	0.350
GDI1	NADK	psi-mi:“MI:0914”(association)	0.350
EPHX1	RAB34	psi-mi:“MI:0914”(association)	0.350
NOX1	RAB34	psi-mi:“MI:0914”(association)	0.350
RILP	RAB34	psi-mi:“MI:0914”(association)	0.350
RAB34	RAP1GDS1	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
SLC11A1	TRAFD1	psi-mi:“MI:0914”(association)	0.350
SLC26A11	CNOT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): NARR (Affinity Capture-MS), NARR (Affinity Capture-MS), NARR (Affinity Capture-MS), NARR (Affinity Capture-MS), NARR (Affinity Capture-MS), NARR (Affinity Capture-MS), NARR (Proximity Label-MS)

ESM2 similar proteins: A0A1W2PPE3, A0A3B3IS91, A0A6I8MX38, A0A6I8PU40, A8MTW9, B1AH88, B3EWF7, C0HLS1, C0HMD6, H3BQW9, I3L0S3, I3L1E1, O70738, O75638, P03289, P0C880, P0DI83, P11300, P13985, P16807, P29164, P33485, P59091, P80612, Q01480, Q01900, Q3SYB3, Q5JLA7, Q5SY85, Q5T4H9, Q63003, Q6EEV4, Q6VB84, Q86SI9, Q8N1I8, Q8N1X5, Q8N319, Q8N6K4, Q8N6U2, Q8N726

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	34
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2921270	NM_031934.6(RAB34):c.652G>A (p.Glu218Lys)	Pathogenic
2921273	NM_031934.6(RAB34):c.632G>A (p.Arg211His)	Pathogenic
2506966	NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)	Likely pathogenic
2506967	NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)	Likely pathogenic

SpliceAI

1453 predictions. Top by Δscore:

Variant	Effect	Δscore
17:28714791:A:AC	donor_gain	1.0000
17:28714792:C:CC	donor_gain	1.0000
17:28714792:CGGA:C	donor_gain	1.0000
17:28714801:T:TA	donor_gain	1.0000
17:28714802:C:A	donor_gain	1.0000
17:28714899:ACC:A	acceptor_loss	1.0000
17:28714900:CCTGA:C	acceptor_loss	1.0000
17:28715027:CTCA:C	donor_loss	1.0000
17:28715028:TCA:T	donor_loss	1.0000
17:28715029:CA:C	donor_loss	1.0000
17:28715030:A:AC	donor_gain	1.0000
17:28715030:AC:A	donor_gain	1.0000
17:28715031:C:CT	donor_gain	1.0000
17:28715031:CC:C	donor_gain	1.0000
17:28715031:CCA:C	donor_gain	1.0000
17:28715060:AG:A	donor_gain	1.0000
17:28715060:AGC:A	donor_gain	1.0000
17:28715061:G:C	donor_gain	1.0000
17:28715123:C:CC	acceptor_gain	1.0000
17:28715194:CA:C	donor_gain	1.0000
17:28715450:A:AC	donor_gain	1.0000
17:28715451:C:CC	donor_gain	1.0000
17:28715451:CTTA:C	donor_gain	1.0000
17:28715452:TTACT:T	donor_loss	1.0000
17:28715454:A:AC	donor_gain	1.0000
17:28715455:C:CT	donor_gain	1.0000
17:28715701:CCCAA:C	acceptor_gain	1.0000
17:28715702:CCAA:C	acceptor_gain	1.0000
17:28715702:CCAAC:C	acceptor_gain	1.0000
17:28715703:CAA:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001110218 (17:28716278 C>A,T), RS1001198027 (17:28716363 C>T), RS1002162539 (17:28718946 G>C), RS1002499492 (17:28719714 AGTGAGCCGAGATCGCGCC>A), RS1002511645 (17:28718579 T>G), RS1003521582 (17:28717634 G>A,T), RS1003553756 (17:28714734 G>A), RS1003595362 (17:28717850 C>G,T), RS1004059044 (17:28718958 G>A), RS1005516418 (17:28717899 G>A), RS1005922219 (17:28717083 G>A,C), RS1006401451 (17:28720199 G>T), RS1007432769 (17:28717392 G>A,C,T), RS1007736498 (17:28714192 C>G,T), RS1007788131 (17:28714559 A>C)

Disease associations

OMIM: gene MIM:610917 | disease phenotypes: MIM:208500, MIM:620718

GenCC curated gene-disease

Disease	Classification	Inheritance
orofaciodigital syndrome 20	Strong	Autosomal recessive

Mondo (2): Jeune syndrome (MONDO:0018770), orofaciodigital syndrome 20 (MONDO:0958230)

Orphanet (1): Jeune syndrome (Orphanet:474)

HPO phenotypes

32 total (30 of 32 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000175	Cleft palate
HP:0000180	Lobulated tongue
HP:0000256	Macrocephaly
HP:0000262	Turricephaly
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000337	Broad forehead
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000664	Synophrys
HP:0001162	Postaxial hand polydactyly
HP:0001177	Preaxial hand polydactyly
HP:0001274	Agenesis of corpus callosum
HP:0001321	Cerebellar hypoplasia
HP:0001561	Polyhydramnios
HP:0001629	Ventricular septal defect
HP:0001660	Truncus arteriosus
HP:0001830	Postaxial foot polydactyly
HP:0001841	Preaxial foot polydactyly
HP:0002023	Anal atresia
HP:0003097	Short femur
HP:0006159	Mesoaxial hand polydactyly
HP:0006695	Atrioventricular canal defect
HP:0008551	Microtia
HP:0010112	Mesoaxial foot polydactyly
HP:0010880	Increased nuchal translucency
HP:0033183	Bilobed right lung
HP:0034198	Second trimester onset

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001877_15	Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	4.000000e-06
GCST002830_5	Urate levels in lean individuals	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537571	Jeune syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	4
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Ozone	increases abundance, affects cotreatment, increases oxidation	2
Particulate Matter	increases abundance, decreases expression	2
aristolochic acid I	increases expression	1
3,19-(2-bromobenzylidene)andrographolide	decreases expression, decreases response to substance	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
sodium arsenite	decreases expression	1
1-nitropyrene	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
LDN 193189	decreases expression, affects cotreatment	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases expression, increases abundance	1
Cadmium	decreases expression	1
Carbamazepine	affects expression	1
Carcinogens	decreases expression	1
Ivermectin	decreases expression	1
Mutagens	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Cadmium Chloride	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00948376	Not specified	COMPLETED	Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
NCT04143841	Not specified	TERMINATED	Viveye Ocular Magnetic Neurostimulation System (OMNS) for the Management of Severe Dry Eye Disease
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)