RWDD4

Summary

RWDD4 (RWD domain containing 4, HGNC:23750) is a protein-coding gene on chromosome 4q35.1, encoding RWD domain-containing protein 4 (Q6NW29).

At a glance

• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_152682

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23750
Approved symbol	RWDD4
Name	RWD domain containing 4
Location	4q35.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC10198
Ensembl gene	ENSG00000182552
Ensembl biotype	protein_coding
Entrez	201965

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 nonsense_mediated_decay

ENST00000326397, ENST00000327570, ENST00000506467, ENST00000510702, ENST00000510968, ENST00000512740, ENST00000514322

RefSeq mRNA: 2 — MANE Select: NM_152682 NM_001307922, NM_152682

CCDS: CCDS34111, CCDS77986

Canonical transcript exons

ENST00000326397 — 8 exons

Exon	Start	End
ENSE00001268827	183639635	183641468
ENSE00001331393	183651218	183651327
ENSE00001331395	183655881	183655961
ENSE00002066594	183658929	183659185
ENSE00003502969	183649451	183649568
ENSE00003510170	183646351	183646353
ENSE00003535698	183646488	183646537
ENSE00003550970	183650984	183651131

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 96.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.0981 / max 114.1383, expressed in 1807 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55097	17.4621	1804
55098	1.6360	1128

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.31	gold quality
tibialis anterior	UBERON:0001385	96.02	gold quality
deltoid	UBERON:0001476	96.02	gold quality
adrenal tissue	UBERON:0018303	95.91	gold quality
epithelial cell of pancreas	CL:0000083	95.90	gold quality
quadriceps femoris	UBERON:0001377	94.67	gold quality
vastus lateralis	UBERON:0001379	94.60	gold quality
oviduct epithelium	UBERON:0004804	94.46	gold quality
right adrenal gland cortex	UBERON:0035827	94.43	gold quality
left adrenal gland	UBERON:0001234	94.24	gold quality
left adrenal gland cortex	UBERON:0035825	94.15	gold quality
adrenal cortex	UBERON:0001235	94.10	gold quality
right adrenal gland	UBERON:0001233	94.05	gold quality
amniotic fluid	UBERON:0000173	93.71	gold quality
adrenal gland	UBERON:0002369	93.68	gold quality
biceps brachii	UBERON:0001507	93.42	gold quality
gastrocnemius	UBERON:0001388	93.25	gold quality
palpebral conjunctiva	UBERON:0001812	93.13	gold quality
muscle of leg	UBERON:0001383	93.07	gold quality
esophagus squamous epithelium	UBERON:0006920	92.98	gold quality
skeletal muscle tissue	UBERON:0001134	92.90	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.56	gold quality
oocyte	CL:0000023	92.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.06	gold quality
calcaneal tendon	UBERON:0003701	91.82	gold quality
muscle tissue	UBERON:0002385	91.78	gold quality
ovary	UBERON:0000992	91.73	gold quality
germinal epithelium of ovary	UBERON:0001304	91.45	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.21	gold quality
left ovary	UBERON:0002119	91.10	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.68
E-GEOD-125970	no	3.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting RWDD4, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rwdd	ENSDARG00000068256
mus_musculus	Rwdd4a	ENSMUSG00000031568
rattus_norvegicus	Rwdd4	ENSRNOG00000022500
drosophila_melanogaster	CG10343	FBGN0032703

Protein

Protein identifiers

RWD domain-containing protein 4 — Q6NW29 (reviewed: Q6NW29)

Alternative names: Protein FAM28A

All UniProt accessions (6): Q6NW29, D6R9C7, D6RCM5, D6RDH6, E7EV43, K4DI92

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NW29-1	1	yes
Q6NW29-2	2

RefSeq proteins (2): NP_001294851, NP_689895* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006575	RWD_dom	Domain
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR042770	RWDD4	Family

Pfam: PF05773

UniProt features (11 total): sequence conflict 3, initiator methionine 1, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NW29-F1	80.26	0.55

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, chr4q35, TTGGAGA_MIR5155P_MIR519E, RYTTCCTG_ETS2_B, ELK1_01, TGCCTTA_MIR124A, CETS1P54_01, AP4_01, LEE_BMP2_TARGETS_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, FORTSCHEGGER_PHF8_TARGETS_DN, KAT5_TARGET_GENES, PRKDC_TARGET_GENES, KAECH_NAIVE_VS_MEMORY_CD8_TCELL_UP

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

1108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RWDD4	RWDD1	Q9H446	556
RWDD4	RWDD2A	Q9UIY3	478
RWDD4	WDR97	A6NE52	475
RWDD4	CFAP96	A7E2U8	447
RWDD4	ANKRD62	A6NC57	445
RWDD4	CENPU	Q71F23	439
RWDD4	ZNF599	Q96NL3	405
RWDD4	DDX11	Q96FC9	368
RWDD4	I3L0A0	I3L0A0	349
RWDD4	LCN6	P62502	336
RWDD4	RWDD2B	P57060	334
RWDD4	ZC3H15	Q8WU90	333
RWDD4	BRINP2	Q9C0B6	325
RWDD4	ASB15	Q8WXK1	315
RWDD4	CFAP97	Q9P2B7	313

IntAct

23 interactions, top by confidence:

A	B	Type	Score
RWDD4	ZNF330	psi-mi:“MI:0915”(physical association)	0.810
PACSIN1	COBLL1	psi-mi:“MI:0914”(association)	0.660
RWDD4	HEXB	psi-mi:“MI:0915”(physical association)	0.560
ECE1	RWDD4	psi-mi:“MI:0915”(physical association)	0.370
KCTD17	RWDD4	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
CUL4B	APBB1	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
RWDD4	MOB3C	psi-mi:“MI:0914”(association)	0.350
AHR	SHTN1	psi-mi:“MI:0914”(association)	0.350
ZBTB2	SHTN1	psi-mi:“MI:0914”(association)	0.350
FCGRT	WBP4	psi-mi:“MI:0914”(association)	0.350
RWDD4	UBE2O	psi-mi:“MI:0914”(association)	0.350
RWDD4	CRP	psi-mi:“MI:0914”(association)	0.350
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350
ZNF330	RWDD4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): RWDD4 (Two-hybrid), RWDD4 (Affinity Capture-MS), ZNF330 (Affinity Capture-MS), RWDD4 (Biochemical Activity), RWDD4 (Affinity Capture-MS), RWDD4 (Two-hybrid), RWDD4 (Negative Genetic), RWDD4 (Affinity Capture-RNA), MOB3C (Affinity Capture-MS), ZNF330 (Affinity Capture-MS), RWDD4 (Affinity Capture-MS), UBE2O (Affinity Capture-MS), RWDD4 (Affinity Capture-MS), RWDD4 (Affinity Capture-MS), RWDD4 (Affinity Capture-MS)

ESM2 similar proteins: A0JN39, A7SM54, A8Q8J2, A9UR29, B0WVC4, B3MC02, B3NPZ0, B3RTL9, B4H538, B4HSI1, B4J9W6, B4KQQ4, B4LL39, B4MIX7, B4P6S9, B4QHD6, B9EM04, C1BKD1, C1BZU2, C3ZDX5, D2SW95, O55236, O60942, P23514, P53618, Q03598, Q178A5, Q1JPX4, Q1ZXC9, Q28FC1, Q28X71, Q4R6R4, Q569B7, Q5E953, Q5R922, Q5RCC1, Q66HV4, Q6BBI8, Q6DEN0, Q6NW29

Diamond homologs: Q569B7, Q6NW29, Q9CPR1, Q9CQK7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1711 predictions. Top by Δscore:

Variant	Effect	Δscore
4:183646398:T:TC	acceptor_gain	1.0000
4:183646400:G:GC	acceptor_gain	1.0000
4:183646483:TATA:T	donor_loss	1.0000
4:183646484:ATACC:A	donor_loss	1.0000
4:183646485:TACC:T	donor_loss	1.0000
4:183646486:A:AT	donor_loss	1.0000
4:183646487:C:A	donor_loss	1.0000
4:183646487:CCT:C	donor_gain	1.0000
4:183646534:TGAT:T	acceptor_gain	1.0000
4:183646538:C:CA	acceptor_loss	1.0000
4:183646538:C:CC	acceptor_gain	1.0000
4:183646539:T:C	acceptor_loss	1.0000
4:183649471:CG:C	donor_gain	1.0000
4:183649471:CGCTT:C	donor_gain	1.0000
4:183649564:GATGT:G	acceptor_gain	1.0000
4:183649566:TGT:T	acceptor_gain	1.0000
4:183649566:TGTC:T	acceptor_loss	1.0000
4:183649567:GT:G	acceptor_gain	1.0000
4:183649568:TCTA:T	acceptor_loss	1.0000
4:183649569:C:CC	acceptor_gain	1.0000
4:183649569:CTAAA:C	acceptor_loss	1.0000
4:183650971:A:C	donor_gain	1.0000
4:183650975:CATA:C	donor_gain	1.0000
4:183650978:A:AC	donor_gain	1.0000
4:183650979:C:CT	donor_gain	1.0000
4:183650979:CT:C	donor_gain	1.0000
4:183650979:CTCA:C	donor_gain	1.0000
4:183650980:TCACT:T	donor_loss	1.0000
4:183650981:CACTG:C	donor_loss	1.0000
4:183650982:A:AC	donor_gain	1.0000

AlphaMissense

1249 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:183646503:C:A	W172C	1.000
4:183646503:C:G	W172C	1.000
4:183646505:A:G	W172R	1.000
4:183646505:A:T	W172R	1.000
4:183651282:A:G	W51R	1.000
4:183651282:A:T	W51R	1.000
4:183649473:C:A	K153N	0.999
4:183649473:C:G	K153N	0.999
4:183651036:G:T	A104D	0.999
4:183651055:A:C	Y98D	0.999
4:183646495:A:T	V175D	0.998
4:183646504:C:G	W172S	0.998
4:183646514:C:G	G169R	0.998
4:183649471:C:G	R154P	0.998
4:183649475:T:C	K153E	0.998
4:183649482:T:A	K150N	0.998
4:183649482:T:G	K150N	0.998
4:183651096:A:G	L84P	0.998
4:183651226:G:C	N69K	0.998
4:183651226:G:T	N69K	0.998
4:183651280:C:A	W51C	0.998
4:183651280:C:G	W51C	0.998
4:183651281:C:G	W51S	0.998
4:183655936:A:G	I17T	0.998
4:183655936:A:T	I17N	0.998
4:183655945:A:G	L14S	0.998
4:183655954:A:G	L11P	0.998
4:183655958:C:T	E10K	0.998
4:183646501:A:T	V173D	0.997
4:183646513:C:T	G169D	0.997

dbSNP variants (sampled 300 via entrez): RS1000099024 (4:183658427 T>C), RS10004167 (4:183657256 A>C), RS1000553962 (4:183655534 T>C), RS1000606322 (4:183655476 G>A), RS1000677805 (4:183643573 A>G), RS1000723349 (4:183642984 G>A,C), RS1000781435 (4:183651804 A>G), RS1000783349 (4:183650453 C>A,G,T), RS1000798734 (4:183649202 T>G), RS1000897541 (4:183652048 C>T), RS1001164086 (4:183660840 A>G,T), RS1001165768 (4:183656696 G>A,T), RS1001219235 (4:183653541 A>G), RS1001490864 (4:183660906 G>A), RS10015804 (4:183649562 T>A,C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
sodium arsenite	decreases expression	1
pyrimidifen	increases expression	1
jinfukang	decreases expression	1
Temozolomide	decreases expression	1
Atrazine	decreases expression	1
Vehicle Emissions	affects expression, increases abundance	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ozone	affects expression, increases abundance	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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