ZRANB1

Summary

ZRANB1 (zinc finger RANBP2-type containing 1, HGNC:18224) is a protein-coding gene on chromosome 10q26.13, encoding Ubiquitin thioesterase ZRANB1 (Q9UGI0). Ubiquitin thioesterase, which specifically hydrolyzes ‘Lys-29’-linked and ‘Lys-33’-linked diubiquitin.

Enables K63-linked polyubiquitin modification-dependent protein binding activity and cysteine-type deubiquitinase activity. Involved in several processes, including positive regulation of Wnt signaling pathway; protein deubiquitination; and regulation of cell morphogenesis. Located in cytosol and nucleoplasm. Is active in cytoplasm and nucleus.

Source: NCBI Gene 54764 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_017580

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18224
Approved symbol	ZRANB1
Name	zinc finger RANBP2-type containing 1
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Aliases	TRABID
Ensembl gene	ENSG00000019995
Ensembl biotype	protein_coding
OMIM	611749
Entrez	54764

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000359653, ENST00000471421

RefSeq mRNA: 1 — MANE Select: NM_017580 NM_017580

CCDS: CCDS7642

Canonical transcript exons

ENST00000359653 — 9 exons

Exon	Start	End
ENSE00001095081	124981709	124981829
ENSE00001095091	124966594	124966781
ENSE00001191648	124983459	124983688
ENSE00001191660	124974200	124974398
ENSE00001191664	124973645	124973716
ENSE00001191668	124971965	124972118
ENSE00001420305	124984774	124988189
ENSE00001448061	124942123	124943307
ENSE00003668625	124983175	124983304

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.04.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	98.04	gold quality
endothelial cell	CL:0000115	96.83	gold quality
deltoid	UBERON:0001476	96.48	gold quality
sperm	CL:0000019	94.56	gold quality
amniotic fluid	UBERON:0000173	94.50	gold quality
vastus lateralis	UBERON:0001379	94.04	gold quality
biceps brachii	UBERON:0001507	93.93	gold quality
upper arm skin	UBERON:0004263	93.88	gold quality
quadriceps femoris	UBERON:0001377	93.79	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.56	gold quality
skeletal muscle tissue	UBERON:0001134	93.40	gold quality
gastrocnemius	UBERON:0001388	93.30	gold quality
left ventricle myocardium	UBERON:0006566	93.07	gold quality
epithelial cell of pancreas	CL:0000083	92.97	gold quality
muscle of leg	UBERON:0001383	92.97	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.61	gold quality
middle temporal gyrus	UBERON:0002771	92.36	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.97	gold quality
pancreatic ductal cell	CL:0002079	91.64	silver quality
myocardium	UBERON:0002349	91.63	gold quality
muscle tissue	UBERON:0002385	91.62	gold quality
secondary oocyte	CL:0000655	91.51	gold quality
upper leg skin	UBERON:0004262	91.27	gold quality
heart right ventricle	UBERON:0002080	90.96	gold quality
skin of hip	UBERON:0001554	90.73	gold quality
tibia	UBERON:0000979	90.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.63	gold quality
oviduct epithelium	UBERON:0004804	90.07	gold quality
cortical plate	UBERON:0005343	90.02	gold quality
right adrenal gland cortex	UBERON:0035827	89.82	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-99795	no	51.75
E-ANND-3	no	3.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

171 targeting ZRANB1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872

Literature-anchored findings (GeneRIF, showing 8)

• Data show that the ankyrin-repeat ubiquitin-binding domain is crucial for TRABID efficiency and linkage specificity. (PMID:22157957)
• ZRANB1 binds, deubiquitinates, and stabilizes EZH2. Depletion of ZRANB1 in breast cancer cells results in EZH2 destabilization and growth inhibition. (PMID:29669287)
• Knockdown of Trabid promoted hepatocellular carcinoma growth and metastasis via regulating Twist1 K63-ubiquitination. (PMID:29748601)
• The deubiquitinase TRABID stabilizes the K29/K48-specific E3 ubiquitin ligase HECTD1. (PMID:33853758)
• ZRANB1 enhances stem-cell-like features and accelerates tumor progression by regulating Sox9-mediated USP22/Wnt/beta-catenin pathway in colorectal cancer. (PMID:34798260)
• TRABID targets DDB2 for deubiquitination to promote proliferation of hepatocellular carcinoma cells. (PMID:35944360)
• The deubiquitinase ZRANB1 is an E3 ubiquitin ligase for SLC7A11 and regulates ferroptotic resistance. (PMID:37831441)
• Trabid patient mutations impede the axonal trafficking of adenomatous polyposis coli to disrupt neurite growth. (PMID:38099646)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	zranb1a	ENSDARG00000060257
danio_rerio	zranb1b	ENSDARG00000063190
mus_musculus	Zranb1	ENSMUSG00000030967
rattus_norvegicus	Zranb1	ENSRNOG00000017294
drosophila_melanogaster	trbd	FBGN0037734

Protein

Protein identifiers

Ubiquitin thioesterase ZRANB1 — Q9UGI0 (reviewed: Q9UGI0)

Alternative names: TRAF-binding domain-containing protein, Zinc finger Ran-binding domain-containing protein 1

All UniProt accessions (1): Q9UGI0

UniProt curated annotations — full annotation on UniProt →

Function. Ubiquitin thioesterase, which specifically hydrolyzes ‘Lys-29’-linked and ‘Lys-33’-linked diubiquitin. Also cleaves ‘Lys-63’-linked chains, but with 40-fold less efficiency compared to ‘Lys-29’-linked ones. Positive regulator of the Wnt signaling pathway that deubiquitinates APC protein, a negative regulator of Wnt-mediated transcription. Acts as a regulator of autophagy by mediating deubiquitination of PIK3C3/VPS34, thereby promoting autophagosome maturation. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the stress fiber dynamics and cell migration.

Subunit / interactions. Interacts with TRAF6. Interacts with APC.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed.

Domain organisation. The RanBP2-type zinc fingers, also called NZFs, mediate the interaction with ubiquitin and determine linkage specificity. RanBP2-type zinc fingers 1 and 2 (also named NZF1 and NZF2) specifically recognize and bind ‘Lys-29’- and ‘Lys-33’-linked ubiquitin. RanBP2-type zinc finger 3 (also named NZF3) binds ‘Lys-33’-linked ubiquitin and shows weak binding to ‘Lys-6’-, ‘Lys-48’- and ‘Lys-63’-linked ubiquitin chains but it does not interact with ‘Lys-29’-linked chains. The OTU domain mediates the deubiquitinating activity. The second ankyrin repeat ANK 2 is termed AnkUBD, it interacts with ubiquitin hydrophobic patch and contributes to linkage specificity.

Similarity. Belongs to the peptidase C64 family.

RefSeq proteins (1): NP_060050* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001876	Znf_RanBP2	Domain
IPR003323	OTU_dom	Domain
IPR036443	Znf_RanBP2_sf	Homologous_superfamily
IPR041294	AnkUBD	Domain
IPR049768	ZRANB1_OTU	Domain
IPR051346	OTU_Deubiquitinase	Family

Pfam: PF00641, PF02338, PF18418

UniProt features (84 total): helix 21, mutagenesis site 16, strand 13, binding site 12, turn 6, zinc finger region 3, sequence conflict 3, region of interest 3, repeat 2, active site 2, chain 1, compositionally biased region 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3ZRH	X-RAY DIFFRACTION	2.23
5AF6	X-RAY DIFFRACTION	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UGI0-F1	77.83	0.48

Functional residue map

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

Catalytic / active sites (2): 443 (nucleophile); 585 (proton acceptor)

Ligand- & substrate-binding residues (12): 10; 13; 24; 27; 90; 93; 104; 107; 155; 158; 169; 172

Mutagenesis-validated functional residues (16):

Position	Phenotype
10	abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with 14-lv-15; a-90; 94
12	does not affect binding to ’lys-29’- and ’lys-33’-linked ubiquitin.
14–15	abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with a-10; a-90; 94-lv-
14	abolished binding to ’lys-29’- and ’lys-33’-linked ubiquitin.
15	strongly reduced binding to ’lys-29’- and ’lys-33’-linked ubiquitin.
16	does not affect binding to ’lys-29’- and ’lys-33’-linked ubiquitin.
18	abolished binding to ’lys-33’-linked diubiquitin.
20	strongly reduced binding to ’lys-33’-linked diubiquitin.
25	does not affect binding to ’lys-29’- and ’lys-33’-linked ubiquitin.
25	abolished binding to ’lys-33’-linked diubiquitin.
26	abolished binding to ’lys-29’- and ’lys-33’-linked ubiquitin.
90	abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with a-10; 14-lv-15; 94
94–95	abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with a-10; 14-lv-15; a-
155	abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with a-10; 14-lv-15; a-
159–160	abolishes the binding to ubiquitin chains but not the deubiquitinating activity; when associated with a-10; 14-lv-15; a-
443	abolishes the deubiquitinating activity but not the binding to ubiquitin chains.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-195253	Degradation of beta-catenin by the destruction complex
R-HSA-5689896	Ovarian tumor domain proteases

MSigDB gene sets: 186 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, RORA1_01, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AP4_Q6, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, CAGCTG_AP4_Q5, NKX61_01, EVI1_05, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, MYOD_01

GO Biological Process (13): cytoskeleton organization (GO:0007010), Wnt signaling pathway (GO:0016055), cell migration (GO:0016477), protein deubiquitination (GO:0016579), regulation of cell morphogenesis (GO:0022604), positive regulation of Wnt signaling pathway (GO:0030177), protein K29-linked deubiquitination (GO:0035523), protein K63-linked deubiquitination (GO:0070536), protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947), protein K33-linked deubiquitination (GO:1990168), autophagosome assembly (GO:0000045), proteolysis (GO:0006508), phosphatidylinositol phosphate biosynthetic process (GO:0046854)

GO Molecular Function (11): cysteine-type deubiquitinase activity (GO:0004843), zinc ion binding (GO:0008270), polyubiquitin modification-dependent protein binding (GO:0031593), K63-linked polyubiquitin modification-dependent protein binding (GO:0070530), deubiquitinase activity (GO:0101005), catalytic activity (GO:0003824), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Signaling by WNT	1
Deubiquitination	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein deubiquitination	4
cellular anatomical structure	3
organelle organization	1
cell surface receptor signaling pathway	1
cell motility	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
cell morphogenesis	1
regulation of anatomical structure morphogenesis	1
positive regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
ubiquitin-dependent protein catabolic process	1
Atg12 activating enzyme activity	1
protein-phosphatidylethanolamide deconjugating activity	1
Atg12 conjugating enzyme activity	1
Atg12 ligase activity	1
organelle assembly	1
Atg1/ULK1 kinase complex assembly	1
autophagosome organization	1
protein metabolic process	1
glycerophospholipid biosynthetic process	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
transition metal ion binding	1
modification-dependent protein binding	1
polyubiquitin modification-dependent protein binding	1
ubiquitin-like protein peptidase activity	1
molecular_function	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1314 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZRANB1	TRAF6	Q9Y4K3	935
ZRANB1	OTUD3	Q5T2D3	713
ZRANB1	CYLD	Q9NQC7	692
ZRANB1	OTUB1	Q96FW1	673
ZRANB1	NPLOC4	Q8TAT6	666
ZRANB1	USP39	Q53GS9	652
ZRANB1	OTULIN	Q96BN8	646
ZRANB1	STAMBP	O95630	624
ZRANB1	ZUP1	Q96AP4	621
ZRANB1	YOD1	Q5VVQ6	614
ZRANB1	PSMD14	O00487	610
ZRANB1	KDM4D	Q6B0I6	595
ZRANB1	OTUD5	Q96G74	590
ZRANB1	OTUB2	Q96DC9	577
ZRANB1	OTUD6A	Q7L8S5	567

IntAct

446 interactions, top by confidence:

A	B	Type	Score
PBLD	ZRANB1	psi-mi:“MI:0915”(physical association)	0.760
PB2	HAX1	psi-mi:“MI:0914”(association)	0.350
ZNF414	ANKHD1	psi-mi:“MI:0914”(association)	0.350
EHHADH	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
GPKOW	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
LMO3	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
ZNF575	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
FAM50B	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
ERF	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
KIFC3	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
IQUB	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
CBX8	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
ZNF775	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
CCDC120	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
SDCBP	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
TBC1D3F	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
ENKD1	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
GLIS2	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
ZNF417	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
TRAPPC2	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
ZNF764	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
PPP1R18	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
USP2	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
DCX	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
CDC5L	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
TRAF6	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
RNPS1	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
BAHD1	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000
CDC45	ZRANB1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4429): ZRANB1 (Affinity Capture-Western), ZRANB1 (Affinity Capture-RNA), ZRANB1 (Affinity Capture-RNA), UBC (Reconstituted Complex), ZRANB1 (Affinity Capture-Western), ZRANB1 (Affinity Capture-MS), ZRANB1 (Affinity Capture-MS), UBC (Biochemical Activity), ZRANB1 (Reconstituted Complex), ZRANB1 (Co-crystal Structure), UBC (Reconstituted Complex), UBC (Biochemical Activity), UBC (Reconstituted Complex), ZRANB1 (Reconstituted Complex), ZRANB1 (Co-crystal Structure)

ESM2 similar proteins: A0JMQ9, A1L1R5, A5PF44, A6QP16, B1H2Q2, B4HWV2, B4JE52, B4KKN5, B4LS82, B5E0H4, D3YWQ0, E7FEV0, F1MAB7, G5E8P1, M9PD06, O46080, O75912, O95696, O96838, P59438, Q10024, Q1L8G6, Q2NKQ1, Q3UGY8, Q3V0G7, Q4G017, Q5TH69, Q5U595, Q5VUJ5, Q5VVW2, Q5VW22, Q6NUB7, Q6P5D3, Q7M760, Q7ZUL9, Q80TM9, Q80U12, Q8AXQ3, Q8BPQ7, Q8K3Y6

Diamond homologs: A0JMQ9, A6QP16, B1H2Q2, B2RUR8, P21580, Q4R8W3, Q5U595, Q60769, Q6GQQ9, Q6NUB7, Q7M760, Q8R554, Q8TE49, Q9UGI0, Q9VH90

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
AKT1	“up-regulates activity”	ZRANB1	phosphorylation
ZRANB1	“down-regulates activity”	TWIST1	deubiquitination
CSNK1A1	“up-regulates activity”	ZRANB1	phosphorylation
ZRANB1	“up-regulates activity”	UVRAG	deubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 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
mRNA Splicing	6	9.2×	6e-03
mRNA Splicing - Major Pathway	10	7.6×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2248 predictions. Top by Δscore:

Variant	Effect	Δscore
10:124943304:GTGG:G	donor_gain	1.0000
10:124943306:GG:G	donor_gain	1.0000
10:124943307:GG:G	donor_gain	1.0000
10:124943308:G:GG	donor_gain	1.0000
10:124943309:TAAG:T	donor_loss	1.0000
10:124962284:AAG:A	acceptor_gain	1.0000
10:124962285:A:G	acceptor_gain	1.0000
10:124962408:GGTA:G	donor_loss	1.0000
10:124962409:GT:G	donor_loss	1.0000
10:124962410:T:G	donor_loss	1.0000
10:124966590:TTAG:T	acceptor_loss	1.0000
10:124966591:TAG:T	acceptor_loss	1.0000
10:124966592:AG:A	acceptor_gain	1.0000
10:124966592:AGG:A	acceptor_gain	1.0000
10:124966592:AGGG:A	acceptor_gain	1.0000
10:124966593:G:GA	acceptor_loss	1.0000
10:124966593:GG:G	acceptor_gain	1.0000
10:124966593:GGG:G	acceptor_gain	1.0000
10:124966593:GGGG:G	acceptor_gain	1.0000
10:124966777:CAGAG:C	donor_gain	1.0000
10:124966778:AGAG:A	donor_gain	1.0000
10:124966779:GAG:G	donor_gain	1.0000
10:124966779:GAGG:G	donor_gain	1.0000
10:124966780:AGG:A	donor_loss	1.0000
10:124966782:G:C	donor_loss	1.0000
10:124966782:G:GG	donor_gain	1.0000
10:124966783:T:G	donor_loss	1.0000
10:124972064:G:GT	donor_gain	1.0000
10:124973639:TTGTA:T	acceptor_loss	1.0000
10:124973640:TGTA:T	acceptor_loss	1.0000

AlphaMissense

4651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:124942515:T:A	W8R	1.000
10:124942515:T:C	W8R	1.000
10:124942517:G:C	W8C	1.000
10:124942517:G:T	W8C	1.000
10:124942521:T:C	C10R	1.000
10:124942522:G:A	C10Y	1.000
10:124942523:T:G	C10W	1.000
10:124942530:T:A	C13S	1.000
10:124942530:T:C	C13R	1.000
10:124942531:G:A	C13Y	1.000
10:124942531:G:C	C13S	1.000
10:124942532:T:G	C13W	1.000
10:124942544:C:A	N17K	1.000
10:124942544:C:G	N17K	1.000
10:124942563:T:A	C24S	1.000
10:124942563:T:C	C24R	1.000
10:124942564:G:A	C24Y	1.000
10:124942564:G:C	C24S	1.000
10:124942565:T:G	C24W	1.000
10:124942572:T:A	C27S	1.000
10:124942572:T:C	C27R	1.000
10:124942573:G:C	C27S	1.000
10:124942755:T:A	W88R	1.000
10:124942755:T:C	W88R	1.000
10:124942757:G:C	W88C	1.000
10:124942757:G:T	W88C	1.000
10:124942761:T:A	C90S	1.000
10:124942761:T:C	C90R	1.000
10:124942762:G:A	C90Y	1.000
10:124942762:G:C	C90S	1.000

dbSNP variants (sampled 300 via entrez): RS1000075745 (10:124971057 G>A,T), RS1000174742 (10:124926930 A>G), RS1000332555 (10:124919512 A>C), RS1000435770 (10:124958403 A>C,G), RS1000435955 (10:124961707 G>T), RS1000436484 (10:124949436 T>C), RS1000471125 (10:124928087 G>A,C), RS1000576814 (10:124953942 T>C), RS1000585697 (10:124953725 G>A,T), RS1000604821 (10:124947565 C>T), RS1000649308 (10:124952321 G>A), RS1000770895 (10:124918816 C>G), RS1000804716 (10:124960850 G>A), RS1000813775 (10:124917087 G>A), RS1000862604 (10:124984662 G>A)

Disease associations

OMIM: gene MIM:611749 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002702_11	Height	2.000000e-07
GCST006014_18	Creatine kinase levels	4.000000e-08
GCST008062_111	Blood urea nitrogen levels	1.000000e-08
GCST008839_43	Height	2.000000e-21
GCST011974_3	Lung cancer	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004534	creatine kinase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
Cadmium Chloride	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Formaldehyde	decreases expression	1
Menthol	decreases expression	1
Phenobarbital	affects expression	1
Testosterone	decreases expression	1
Tretinoin	increases expression	1
Urethane	increases expression	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2LZ	Abcam HeLa ZRANB1 KO	Cancer cell line	Female
CVCL_TZ56	HAP1 ZRANB1 (-) 1	Cancer cell line	Male
CVCL_TZ57	HAP1 ZRANB1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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