WDR27

Summary

WDR27 (WD repeat domain 27, HGNC:21248) is a protein-coding gene on chromosome 6q27, encoding WD repeat-containing protein 27 (A2RRH5).

This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined.

Source: NCBI Gene 253769 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 216 total — 1 pathogenic
• MANE Select transcript: NM_182552

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21248
Approved symbol	WDR27
Name	WD repeat domain 27
Location	6q27
Locus type	gene with protein product
Status	Approved
Aliases	MGC43690
Ensembl gene	ENSG00000184465
Ensembl biotype	protein_coding
OMIM	620936
Entrez	253769

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 9 protein_coding, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000423258, ENST00000441385, ENST00000448612, ENST00000467418, ENST00000474018, ENST00000476322, ENST00000479310, ENST00000486490, ENST00000496752, ENST00000546525, ENST00000546953, ENST00000647790, ENST00000647873, ENST00000647889, ENST00000648017, ENST00000648472, ENST00000649303, ENST00000649806, ENST00000650296, ENST00000850900, ENST00000897347, ENST00000923577

RefSeq mRNA: 5 — MANE Select: NM_182552 NM_001202550, NM_001350623, NM_001350624, NM_001350625, NM_182552

CCDS: CCDS47520, CCDS56459, CCDS94039

Canonical transcript exons

ENST00000448612 — 26 exons

Exon	Start	End
ENSE00002331353	169672255	169672396
ENSE00002372640	169636371	169636504
ENSE00002519451	169572419	169572540
ENSE00003480055	169660663	169660766
ENSE00003500007	169651930	169652008
ENSE00003509926	169602219	169602321
ENSE00003510434	169670569	169670693
ENSE00003514730	169659086	169659207
ENSE00003537161	169638539	169638660
ENSE00003541823	169643697	169643786
ENSE00003545903	169649198	169649275
ENSE00003562162	169665486	169665556
ENSE00003570353	169658276	169658358
ENSE00003585295	169613559	169613656
ENSE00003587921	169688817	169689012
ENSE00003622940	169664166	169664286
ENSE00003647942	169582836	169582934
ENSE00003659062	169662304	169662424
ENSE00003662899	169632947	169633068
ENSE00003663162	169647773	169647870
ENSE00003663948	169634428	169634525
ENSE00003672638	169667136	169667187
ENSE00003685937	169659451	169659518
ENSE00003837811	169701551	169702029
ENSE00004282658	169457212	169457634
ENSE00004282659	169667982	169668185

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 98.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9761 / max 146.6726, expressed in 1675 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76792	8.5258	1664
76791	0.4218	211
76788	0.0286	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.29	gold quality
left ovary	UBERON:0002119	95.80	gold quality
left lobe of thyroid gland	UBERON:0001120	95.34	gold quality
body of uterus	UBERON:0009853	95.01	gold quality
right ovary	UBERON:0002118	94.90	gold quality
right lobe of thyroid gland	UBERON:0001119	94.71	gold quality
endocervix	UBERON:0000458	94.68	gold quality
thyroid gland	UBERON:0002046	94.13	gold quality
ectocervix	UBERON:0012249	93.77	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.66	gold quality
pancreatic ductal cell	CL:0002079	93.52	gold quality
lower esophagus mucosa	UBERON:0035834	93.46	gold quality
apex of heart	UBERON:0002098	93.21	gold quality
ventricular zone	UBERON:0003053	92.99	gold quality
left testis	UBERON:0004533	92.81	gold quality
cerebellar hemisphere	UBERON:0002245	92.77	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.75	gold quality
minor salivary gland	UBERON:0001830	92.69	gold quality
right testis	UBERON:0004534	92.63	gold quality
transverse colon	UBERON:0001157	92.62	gold quality
body of pancreas	UBERON:0001150	92.49	gold quality
cerebellar cortex	UBERON:0002129	92.41	gold quality
left uterine tube	UBERON:0001303	92.03	gold quality
tibial nerve	UBERON:0001323	91.84	gold quality
body of stomach	UBERON:0001161	91.78	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.75	gold quality
metanephros cortex	UBERON:0010533	91.72	gold quality
ovary	UBERON:0000992	91.62	gold quality
esophagus mucosa	UBERON:0002469	91.42	gold quality
right adrenal gland cortex	UBERON:0035827	91.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting WDR27, 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-6873-3P	100.00	71.42	2626
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-4326	98.97	67.63	962
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-4327	97.21	67.71	676
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-3169	96.40	67.58	698
HSA-MIR-550B-3P	95.43	67.73	599

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr27	ENSDARG00000053386
mus_musculus	Wdr27	ENSMUSG00000046991
rattus_norvegicus	Wdr27	ENSRNOG00000015609

Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), PAK1IP1 (ENSG00000111845), WDR75 (ENSG00000115368), DCAF4 (ENSG00000119599), DAW1 (ENSG00000123977), TEP1 (ENSG00000129566), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)

Protein

Protein identifiers

WD repeat-containing protein 27 — A2RRH5 (reviewed: A2RRH5)

All UniProt accessions (9): A2RRH5, A0A3B3IRT0, A0A3B3IS64, A0A3B3ISN9, A0A3B3IT90, A0A3B3ITF5, B4DDD4, F8VUY7, H7C3H5

Isoforms (4)

UniProt ID	Names	Canonical?
A2RRH5-1	1	yes
A2RRH5-2	2
A2RRH5-3	3
A2RRH5-4	4

RefSeq proteins (5): NP_001189479, NP_001337552, NP_001337553, NP_001337554, NP_872358* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR011047	Quinoprotein_ADH-like_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR042411	WDR27	Family

Pfam: PF00400

UniProt features (29 total): repeat 14, splice variant 5, sequence variant 5, sequence conflict 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A2RRH5-F1	81.09	0.50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, chr6q27, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, TGGAAA_NFAT_Q4_01, CDC5_01, BANP_TARGET_GENES, CBX5_TARGET_GENES, DYRK1A_TARGET_GENES, FOXD2_TARGET_GENES, FOXN3_TARGET_GENES, GLI3_TARGET_GENES, H1_6_TARGET_GENES, HOXB4_TARGET_GENES, HOXC6_TARGET_GENES, IRF5_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (1): nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

890 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR27	DYNLT2	Q8IZS6	759
WDR27	STEEP1	Q9H5V9	646
WDR27	C6orf120	Q7Z4R8	607
WDR27	PHF10	Q8WUB8	577
WDR27	FRMD1	Q8N878	547
WDR27	HTR5A	P47898	545
WDR27	CD8B2	A6NJW9	520
WDR27	DACT2	Q5SW24	516
WDR27	SMOC2	Q9H3U7	511
WDR27	CDCP2	Q5VXM1	508
WDR27	PDXDC1	Q6P996	480
WDR27	FAM120B	Q96EK7	477
WDR27	TMEM132E	Q6IEE7	469
WDR27	LRRC23	Q53EV4	461
WDR27	MROH7	Q68CQ1	457

IntAct

7 interactions, top by confidence:

A	B	Type	Score
WDR27	ASNS	psi-mi:“MI:0915”(physical association)	0.560
ASNS	WDR27	psi-mi:“MI:0915”(physical association)	0.560
WDR27	HSPA8	psi-mi:“MI:0915”(physical association)	0.400
	WDR27	psi-mi:“MI:0915”(physical association)	0.400
ADAM18	WDR27	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): WDR27 (Two-hybrid), WDR27 (Affinity Capture-RNA), WDR27 (Affinity Capture-RNA), WDR27 (Affinity Capture-MS), WDR27 (Affinity Capture-RNA), HSPA8 (Affinity Capture-MS), WDR27 (Affinity Capture-MS), WDR27 (Affinity Capture-MS), WDR27 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A2AWP8, A2RRH5, C9J798, O43374, O70277, O95294, P04629, P59926, Q0GA42, Q13368, Q14318, Q16512, Q29RM4, Q2HY40, Q2T9P3, Q2TBA3, Q5BIM1, Q5M7W1, Q5R5M3, Q5R811, Q5T7P8, Q5XIS9, Q62746, Q6PFQ7, Q6PFY8, Q7TNM2, Q7TP90, Q7Z4K8, Q8BG60, Q8BHT7, Q8BQC3, Q8C6N3, Q8CIW5, Q8IZ69, Q8NCT1, Q920N2, Q92546, Q925B4

Diamond homologs: A2RRH5, Q54KL5, Q6DIF4, Q7K0L4, Q8C5V5, A2RRU3, A7MB12, C3XVT5, O02482, O54929, O82266, O94365, P87060, Q04305, Q0J7U6, Q0V8J1, Q12417, Q54QU5, Q5F3D7, Q5REE0, Q5XGE2, Q6P1V3, Q7T2F6, Q7ZW33, Q7ZXZ2, Q8C7V3, Q8TED0, Q9D2V7, Q9NYS7, Q9Y6I7, A3LQ86, A5DL92, A6ZPA9, A7RHG8, A7TMF9, A8ILK1, A8PD13, A8XEN7, A9UZS7, B0DWM8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	151
Likely benign	26
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
979749	GRCh37/hg19 6q27(chr6:167580012-170919482)x1	Pathogenic

SpliceAI

7273 predictions. Top by Δscore:

Variant	Effect	Δscore
6:169602214:CATA:C	donor_gain	1.0000
6:169602215:ATAC:A	donor_loss	1.0000
6:169602217:A:AC	donor_gain	1.0000
6:169602217:ACGT:A	donor_loss	1.0000
6:169602218:C:CT	donor_gain	1.0000
6:169602218:CG:C	donor_gain	1.0000
6:169602218:CGT:C	donor_gain	1.0000
6:169602218:CGTG:C	donor_gain	1.0000
6:169602218:CGTGT:C	donor_gain	1.0000
6:169602317:CACAC:C	acceptor_gain	1.0000
6:169602318:ACAC:A	acceptor_gain	1.0000
6:169602319:CAC:C	acceptor_gain	1.0000
6:169602319:CACC:C	acceptor_gain	1.0000
6:169602320:ACCTA:A	acceptor_loss	1.0000
6:169602322:CTA:C	acceptor_loss	1.0000
6:169634521:TATAT:T	acceptor_gain	1.0000
6:169634523:TAT:T	acceptor_gain	1.0000
6:169634524:AT:A	acceptor_gain	1.0000
6:169634526:C:CC	acceptor_gain	1.0000
6:169634526:CTG:C	acceptor_loss	1.0000
6:169638492:AGCT:A	donor_gain	1.0000
6:169659537:C:CT	acceptor_gain	1.0000
6:169659538:A:T	acceptor_gain	1.0000
6:169659546:CATGA:C	acceptor_gain	1.0000
6:169659547:A:C	acceptor_gain	1.0000
6:169659550:A:AC	acceptor_gain	1.0000
6:169659550:A:C	acceptor_gain	1.0000
6:169660661:AC:A	donor_gain	1.0000
6:169660662:CC:C	donor_gain	1.0000
6:169664191:AAC:A	donor_gain	1.0000

AlphaMissense

5807 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000007461 (6:169504110 TAAAAC>T), RS1000032007 (6:169504425 T>C), RS1000041004 (6:169662838 C>A), RS1000042268 (6:169564114 C>T), RS1000056340 (6:169475541 T>C,G), RS1000063877 (6:169548392 A>G), RS1000080389 (6:169664559 C>T), RS1000109940 (6:169475780 T>G), RS1000112942 (6:169451913 A>C), RS1000115726 (6:169517343 C>A), RS1000120527 (6:169632373 A>T), RS1000127001 (6:169701914 G>A,T), RS1000133492 (6:169464796 A>G), RS1000148906 (6:169688132 A>C,T), RS1000162274 (6:169653009 C>T)

Disease associations

OMIM: gene MIM:620936 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001255_3	Type 1 diabetes	8.000000e-09
GCST003329_2	Response to anti-TNF therapy in rheumatoid arthritis	6.000000e-07
GCST003981_7	Insomnia	3.000000e-08
GCST006105_7	Eye morphology	8.000000e-10
GCST006488_2	Insomnia complaints	2.000000e-08
GCST009849_8	Hallux valgus	2.000000e-06
GCST010151_15	Carotid intima media thickness x smoking interaction	2.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004653	response to TNF antagonist
EFO:0007876	insomnia measurement
EFO:0006527	smoking status measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	5
entinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects expression, affects methylation, decreases methylation	2
Nickel	decreases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Arsenic	affects methylation	1
Cisplatin	decreases expression	1
Lead	increases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	increases methylation	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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