RWDD2B

Summary

RWDD2B (RWD domain containing 2B, HGNC:1302) is a protein-coding gene on chromosome 21q21.3, encoding RWD domain-containing protein 2B (P57060).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_016940

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1302
Approved symbol	RWDD2B
Name	RWD domain containing 2B
Location	21q21.3
Locus type	gene with protein product
Status	Approved
Aliases	GL011
Ensembl gene	ENSG00000156253
Ensembl biotype	protein_coding
OMIM	617843
Entrez	10069

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 protein_coding

ENST00000286777, ENST00000466746, ENST00000471269, ENST00000472184, ENST00000481411, ENST00000486719, ENST00000493196, ENST00000929248

RefSeq mRNA: 2 — MANE Select: NM_016940 NM_001320724, NM_016940

CCDS: CCDS13582

Canonical transcript exons

ENST00000493196 — 5 exons

Exon	Start	End
ENSE00001025429	29019211	29019349
ENSE00001849080	29004384	29006651
ENSE00003538911	29007761	29008123
ENSE00003647905	29008240	29008307
ENSE00003681891	29008395	29008621

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 93.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.2698 / max 376.7165, expressed in 1690 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190065	11.2698	1690

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.69	gold quality
gluteal muscle	UBERON:0002000	93.56	gold quality
biceps brachii	UBERON:0001507	92.87	gold quality
triceps brachii	UBERON:0001509	92.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.36	gold quality
muscle of leg	UBERON:0001383	92.13	gold quality
gastrocnemius	UBERON:0001388	92.04	gold quality
vastus lateralis	UBERON:0001379	91.80	gold quality
muscle organ	UBERON:0001630	91.80	gold quality
skeletal muscle organ	UBERON:0014892	91.80	gold quality
quadriceps femoris	UBERON:0001377	91.22	gold quality
deltoid	UBERON:0001476	90.43	gold quality
tendon of biceps brachii	UBERON:0008188	90.14	gold quality
skeletal muscle tissue	UBERON:0001134	90.05	gold quality
right adrenal gland	UBERON:0001233	88.79	gold quality
right adrenal gland cortex	UBERON:0035827	88.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.52	gold quality
diaphragm	UBERON:0001103	88.01	silver quality
tendon	UBERON:0000043	87.87	gold quality
muscle tissue	UBERON:0002385	87.86	gold quality
stromal cell of endometrium	CL:0002255	87.63	gold quality
descending thoracic aorta	UBERON:0002345	87.56	gold quality
left adrenal gland	UBERON:0001234	87.53	gold quality
tibialis anterior	UBERON:0001385	87.23	silver quality
left adrenal gland cortex	UBERON:0035825	86.89	gold quality
thoracic aorta	UBERON:0001515	86.87	gold quality
ascending aorta	UBERON:0001496	86.78	gold quality
calcaneal tendon	UBERON:0003701	86.78	gold quality
body of pancreas	UBERON:0001150	86.77	gold quality
right coronary artery	UBERON:0001625	86.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting RWDD2B, 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-196A-1-3P	99.99	72.15	2772
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-3611	98.76	68.76	1290
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-6793-3P	97.66	65.78	1084
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-1343-5P	96.48	66.06	1506

Literature-anchored findings (GeneRIF, showing 2)

• The RWDD2B distal promoter contains an activating cis-regulatory element that is responsive to Trichostatin A (TSA) treatment and to serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
• Multi-Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility. (PMID:32755071)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rwdd2b	ENSDARG00000055426
mus_musculus	Rwdd2b	ENSMUSG00000041079
rattus_norvegicus	Rwdd2b	ENSRNOG00000001599
drosophila_melanogaster	CG30338	FBGN0050338

Paralogs (1): RWDD2A (ENSG00000013392)

Protein

Protein identifiers

RWD domain-containing protein 2B — P57060 (reviewed: P57060)

All UniProt accessions (1): P57060

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Ubiquitous.

RefSeq proteins (2): NP_001307653, NP_058636* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006575	RWD_dom	Domain
IPR010541	Prp3_C	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR017359	Phi-like	Family
IPR059181	RWDD2A-B_C	Domain

Pfam: PF05773, PF06544

UniProt features (11 total): helix 4, strand 4, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DAX	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57060-F1	81.96	0.52

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): 275

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 56 (showing top): CHANDRAN_METASTASIS_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, ROZANOV_MMP14_TARGETS_UP, DOUGLAS_BMI1_TARGETS_DN, chr21q21, ENK_UV_RESPONSE_EPIDERMIS_UP, ZWANG_EGF_PERSISTENTLY_DN, CAMP_UP.V1_DN, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_DN, ZNF22_TARGET_GENES, ZNF362_TARGET_GENES, ZNF407_TARGET_GENES, ZNF7_TARGET_GENES, ZSCAN21_TARGET_GENES, MIR4668_5P

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

304 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RWDD2B	YBEY	P58557	631
RWDD2B	POFUT2	Q9Y2G5	572
RWDD2B	FAM24B	Q8N5W8	570
RWDD2B	COLGALT2	Q8IYK4	486
RWDD2B	MAP3K7CL	P57077	471
RWDD2B	GADD45G	O95257	465
RWDD2B	USP16	Q9Y5T5	463
RWDD2B	KLRG2	A4D1S0	463
RWDD2B	RWDD1	Q9H446	449
RWDD2B	PCBP3	P57721	437
RWDD2B	DNAH2	Q9P225	418
RWDD2B	JSRP1	Q96MG2	417
RWDD2B	BRCA1	P38398	398
RWDD2B	EVA1C	P58658	388
RWDD2B	SPATC1L	Q9H0A9	370

IntAct

58 interactions, top by confidence:

A	B	Type	Score
RWDD2B	GADD45G	psi-mi:“MI:0915”(physical association)	0.830
GADD45G	RWDD2B	psi-mi:“MI:0915”(physical association)	0.830
RWDD2B	KRT40	psi-mi:“MI:0915”(physical association)	0.720
KRT40	RWDD2B	psi-mi:“MI:0915”(physical association)	0.720
RWDD2B	IKZF1	psi-mi:“MI:0915”(physical association)	0.670
IKZF1	RWDD2B	psi-mi:“MI:0915”(physical association)	0.670
EPB41	RWDD2B	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	RWDD2B	psi-mi:“MI:0915”(physical association)	0.560
PHC2	RWDD2B	psi-mi:“MI:0915”(physical association)	0.560
KIAA1958	RWDD2B	psi-mi:“MI:0915”(physical association)	0.560
RWDD2B	DVL3	psi-mi:“MI:0915”(physical association)	0.560
RWDD2B	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
RWDD2B	EPB41	psi-mi:“MI:0915”(physical association)	0.560
RWDD2B	PHC2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (56): RWDD2B (Two-hybrid), RWDD2B (Two-hybrid), RWDD2B (Two-hybrid), IKZF1 (Two-hybrid), GADD45G (Two-hybrid), KRT40 (Two-hybrid), KIAA1958 (Two-hybrid), KRTAP10-7 (Two-hybrid), BRCA1 (Two-hybrid), RWDD2B (Affinity Capture-MS), C6orf211 (Affinity Capture-MS), MYH11 (Affinity Capture-MS), PLS1 (Affinity Capture-MS), PDLIM5 (Affinity Capture-MS), HS1BP3 (Affinity Capture-MS)

ESM2 similar proteins: A0A8J1LLF7, A1KXW8, A6QL50, B0K012, B3DLA6, E1BGQ2, H0Y354, O94955, P42694, P47224, P54277, P57060, Q08326, Q1A730, Q1JQA1, Q1RMS8, Q1RMZ1, Q2KHT6, Q3T0J1, Q4R372, Q4R528, Q504Q3, Q5F480, Q5R9U9, Q5RCQ0, Q5RDU9, Q5RFG8, Q5TYM5, Q5ZLS2, Q641X7, Q6DFV5, Q6IE70, Q6L9T8, Q7SXV1, Q7Z6J8, Q86X60, Q8BFZ8, Q8BGF7, Q8BX13, Q8N5C7

Diamond homologs: P57060, Q4R6P2, Q5R9U9, Q99M03, Q9D9S3, Q9UIY3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

549 predictions. Top by Δscore:

Variant	Effect	Δscore
21:29006647:TGAGT:T	acceptor_gain	1.0000
21:29006652:C:CC	acceptor_gain	1.0000
21:29008414:T:TA	donor_gain	1.0000
21:29008617:AGTTT:A	acceptor_gain	1.0000
21:29008618:GTTT:G	acceptor_gain	1.0000
21:29008619:TTT:T	acceptor_gain	1.0000
21:29008619:TTTCT:T	acceptor_loss	1.0000
21:29008620:TT:T	acceptor_gain	1.0000
21:29008620:TTCT:T	acceptor_loss	1.0000
21:29008621:TC:T	acceptor_loss	1.0000
21:29008622:C:CC	acceptor_gain	1.0000
21:29008622:C:T	acceptor_loss	1.0000
21:29006650:GT:G	acceptor_gain	0.9900
21:29006651:TCTGA:T	acceptor_loss	0.9900
21:29006652:C:CA	acceptor_loss	0.9900
21:29008390:ATTAC:A	donor_loss	0.9900
21:29008391:TTACC:T	donor_loss	0.9900
21:29008392:TACC:T	donor_loss	0.9900
21:29008393:A:G	donor_loss	0.9900
21:29008630:G:C	acceptor_gain	0.9900
21:29008630:G:GC	acceptor_gain	0.9900
21:29019206:CTCA:C	donor_loss	0.9900
21:29019207:TCAC:T	donor_loss	0.9900
21:29019208:CAC:C	donor_loss	0.9900
21:29019209:A:T	donor_loss	0.9900
21:29019210:C:CA	donor_loss	0.9900
21:29006648:GAGT:G	acceptor_gain	0.9800
21:29006648:GAGTC:G	acceptor_gain	0.9800
21:29006649:AGT:A	acceptor_gain	0.9800
21:29007955:T:TA	donor_gain	0.9800

AlphaMissense

2118 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:29006635:A:G	W248R	0.998
21:29006635:A:T	W248R	0.998
21:29007836:C:T	G217E	0.998
21:29007904:G:C	S194R	0.997
21:29007904:G:T	S194R	0.997
21:29007906:T:G	S194R	0.997
21:29007915:A:G	W191R	0.997
21:29007915:A:T	W191R	0.997
21:29006633:C:A	W248C	0.996
21:29006633:C:G	W248C	0.996
21:29007877:T:A	R203S	0.996
21:29007877:T:G	R203S	0.996
21:29007880:T:A	K202N	0.996
21:29007880:T:G	K202N	0.996
21:29007900:G:C	H196D	0.995
21:29007901:A:C	H195Q	0.995
21:29007901:A:T	H195Q	0.995
21:29007917:A:G	L190P	0.995
21:29008555:A:G	L45P	0.995
21:29007795:C:G	G231R	0.994
21:29007806:A:T	V227D	0.994
21:29007812:C:T	G225D	0.994
21:29007898:A:C	H196Q	0.994
21:29007898:A:T	H196Q	0.994
21:29007903:G:C	H195D	0.994
21:29008076:A:G	L137P	0.994
21:29007832:A:C	F218L	0.993
21:29007832:A:T	F218L	0.993
21:29007834:A:G	F218L	0.993
21:29007837:C:A	G217W	0.993

dbSNP variants (sampled 300 via entrez): RS1000101708 (21:29009823 G>A), RS1000325691 (21:29010626 AAAAAAACC>A), RS1000487508 (21:29004420 C>T), RS1000547552 (21:29009326 C>G), RS1000663586 (21:29009151 G>A), RS1000890847 (21:29007316 T>G), RS1001178004 (21:29015376 G>A,C), RS1001322533 (21:29018873 A>C), RS1001330719 (21:29012178 C>CA,CG,CT), RS1001550702 (21:29013313 G>A,T), RS1001600311 (21:29019167 C>A), RS1001666453 (21:29004871 G>A,T), RS1001717097 (21:29004641 G>A), RS1001937210 (21:29020641 G>C), RS1002044226 (21:29005853 G>A)

Disease associations

OMIM: gene MIM:617843 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90013407_200	Liver enzyme levels (gamma-glutamyl transferase)	1.000000e-18

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance	2
Benzo(a)pyrene	increases expression, increases methylation	2
Tobacco Smoke Pollution	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
monomethylarsonous acid	increases expression	1
jinfukang	affects cotreatment, increases expression	1
prothioconazole	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Sodium Dodecyl Sulfate	decreases expression	1
Testosterone	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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