BRICD5

Summary

BRICD5 (BRICHOS domain containing 5, HGNC:28309) is a protein-coding gene on chromosome 16p13.3, encoding BRICHOS domain-containing protein 5 (Q6PL45).

Predicted to be involved in regulation of cell population proliferation. Predicted to be located in membrane. Predicted to be active in extracellular space.

Source: NCBI Gene 283870 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 82 total — 4 pathogenic
• MANE Select transcript: NM_182563

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28309
Approved symbol	BRICD5
Name	BRICHOS domain containing 5
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC21830
Ensembl gene	ENSG00000182685
Ensembl biotype	protein_coding
Entrez	283870

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000328540, ENST00000562360, ENST00000566018, ENST00000566795

RefSeq mRNA: 1 — MANE Select: NM_182563 NM_182563

CCDS: CCDS10463

Canonical transcript exons

ENST00000328540 — 6 exons

Exon	Start	End
ENSE00001299735	2209950	2210051
ENSE00001303186	2210522	2210650
ENSE00001305450	2209553	2209706
ENSE00001325646	2210783	2210863
ENSE00001327367	2209253	2209456
ENSE00001330419	2210126	2210281

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 97.25.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	97.25	gold quality
cerebellar hemisphere	UBERON:0002245	97.00	gold quality
cerebellar cortex	UBERON:0002129	96.87	gold quality
cerebellum	UBERON:0002037	95.37	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.15	gold quality
apex of heart	UBERON:0002098	90.46	gold quality
right frontal lobe	UBERON:0002810	90.02	gold quality
right lobe of thyroid gland	UBERON:0001119	89.43	gold quality
left lobe of thyroid gland	UBERON:0001120	89.16	gold quality
mucosa of transverse colon	UBERON:0004991	88.07	gold quality
right testis	UBERON:0004534	88.01	gold quality
left testis	UBERON:0004533	87.96	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.51	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.94	gold quality
anterior cingulate cortex	UBERON:0009835	86.65	gold quality
thyroid gland	UBERON:0002046	86.58	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.82	gold quality
adenohypophysis	UBERON:0002196	85.18	gold quality
testis	UBERON:0000473	84.83	gold quality
lower esophagus mucosa	UBERON:0035834	84.63	gold quality
granulocyte	CL:0000094	84.50	gold quality
metanephros cortex	UBERON:0010533	84.43	gold quality
nucleus accumbens	UBERON:0001882	84.31	gold quality
hypothalamus	UBERON:0001898	84.31	gold quality
caudate nucleus	UBERON:0001873	84.19	gold quality
putamen	UBERON:0001874	84.06	gold quality
pituitary gland	UBERON:0000007	83.44	gold quality
spleen	UBERON:0002106	83.27	gold quality
right lung	UBERON:0002167	82.73	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	82.63	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

1 targeting BRICD5, 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-3202	99.66	67.70	2737

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	bricd5	ENSDARG00000056247
mus_musculus	Bricd5	ENSMUSG00000045744
rattus_norvegicus	Bricd5	ENSRNOG00000009611

Paralogs (2): GKN1 (ENSG00000169605), GKN2 (ENSG00000183607)

Protein

Protein identifiers

BRICHOS domain-containing protein 5 — Q6PL45 (reviewed: Q6PL45)

All UniProt accessions (2): Q6PL45, H3BV65

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6PL45-1	1	yes
Q6PL45-2	2

RefSeq proteins (1): NP_872369* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007084	BRICHOS_dom	Domain
IPR051772	Gastrokine	Family

Pfam: PF04089

UniProt features (13 total): sequence variant 3, transmembrane region 2, chain 1, sequence conflict 1, topological domain 1, domain 1, region of interest 1, glycosylation site 1, disulfide bond 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PL45-F1	70.89	0.32

Functional residue map

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

Disulfide bonds (1): 125–185

Glycosylation sites (1): 79

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): PAX2_02, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, MARTENS_TRETINOIN_RESPONSE_DN, SETD7_TARGET_GENES, SNRNP70_TARGET_GENES, JINESH_BLEBBISHIELD_VS_LIVE_CONTROL_UP, JINESH_BLEBBISHIELD_TRANSFORMED_STEM_CELL_SPHERES_DN, DESCARTES_MAIN_FETAL_PDE1C_ACSM3_POSITIVE_CELLS, BDP1_TARGET_GENES, ZNF224_TARGET_GENES, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_DN, GSE17974_CTRL_VS_ACT_IL4_AND_ANTI_IL12_0.5H_CD4_TCELL_UP, BANG_VERTEPORFIN_ENDOMETRIAL_CANCER_CELLS_DN, GOBP_REGULATION_OF_CELL_POPULATION_PROLIFERATION, GSE26928_EFF_MEM_VS_CENTR_MEM_CD4_TCELL_UP

GO Biological Process (1): regulation of cell population proliferation (GO:0042127)

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

GO Cellular Component (2): obsolete extracellular space (GO:0005615), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	1
regulation of cellular process	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BRICD5	ZPLD1	Q8TCW7	566
BRICD5	CIB3	Q96Q77	544
BRICD5	TECTB	Q96PL2	543
BRICD5	RNF151	Q2KHN1	519
BRICD5	AGR3	Q8TD06	506
BRICD5	FAHD1	Q6P587	506
BRICD5	CCDC61	Q9Y6R9	468
BRICD5	ZNF764	Q96H86	446
BRICD5	CASKIN1	Q8WXD9	438
BRICD5	TEDC2	Q7L2K0	418
BRICD5	PCDH20	Q8N6Y1	397
BRICD5	SYNGR3	O43761	392
BRICD5	ZNF598	Q86UK7	385
BRICD5	MEIOB	Q8N635	383
BRICD5	TBL3	Q12788	375

IntAct

8 interactions, top by confidence:

A	B	Type	Score
SYNE4	BRICD5	psi-mi:“MI:0915”(physical association)	0.560
PGAP2	BRICD5	psi-mi:“MI:0915”(physical association)	0.400
BRICD5	POTEF	psi-mi:“MI:0914”(association)	0.350
BRICD5	TMEM131L	psi-mi:“MI:0914”(association)	0.350
BRICD5	PODXL	psi-mi:“MI:0914”(association)	0.350

BioGRID (195): BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid), BRICD5 (Two-hybrid)

ESM2 similar proteins: A0EQL2, A5PJC7, D4AB34, D7PDD4, O55237, O70540, O75888, O77755, O95866, P01374, P04278, P04924, P05111, P07994, P09225, P0C6B3, P10154, P18627, P26445, P32970, P38440, P40238, P41273, P43031, P51435, P55101, P59695, P61125, Q06332, Q06600, Q08351, Q14773, Q1WM27, Q3ZDR4, Q5NKT8, Q5TM20, Q5WR07, Q61790, Q61826, Q6PGN1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	55
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	Pathogenic
3063473	GRCh37/hg19 16p13.3(chr16:2130809-2285561)x1	Pathogenic
564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	Pathogenic
978067	Single allele	Pathogenic

SpliceAI

661 predictions. Top by Δscore:

Variant	Effect	Δscore
16:2209551:AC:A	donor_gain	1.0000
16:2209552:CC:C	donor_gain	1.0000
16:2209552:CCCT:C	donor_gain	1.0000
16:2209947:CAC:C	donor_loss	1.0000
16:2209948:A:AC	donor_gain	1.0000
16:2209948:ACCTT:A	donor_loss	1.0000
16:2209949:C:CC	donor_gain	1.0000
16:2209949:C:CT	donor_loss	1.0000
16:2210047:CAGCC:C	acceptor_gain	1.0000
16:2210049:GCCC:G	acceptor_loss	1.0000
16:2210050:CC:C	acceptor_gain	1.0000
16:2210050:CCCT:C	acceptor_loss	1.0000
16:2210051:CC:C	acceptor_gain	1.0000
16:2210051:CCT:C	acceptor_loss	1.0000
16:2210052:C:CC	acceptor_gain	1.0000
16:2210053:T:A	acceptor_loss	1.0000
16:2210124:A:AC	donor_gain	1.0000
16:2210125:C:CC	donor_gain	1.0000
16:2210125:CG:C	donor_gain	1.0000
16:2210125:CGCT:C	donor_gain	1.0000
16:2210153:G:C	donor_gain	1.0000
16:2209551:A:AC	donor_gain	0.9900
16:2209552:C:CC	donor_gain	0.9900
16:2209704:GACCT:G	acceptor_loss	0.9900
16:2209707:C:CA	acceptor_loss	0.9900
16:2209707:C:CC	acceptor_gain	0.9900
16:2209716:AGGCT:A	acceptor_gain	0.9900
16:2209948:AC:A	donor_gain	0.9900
16:2209949:CC:C	donor_gain	0.9900
16:2210048:AGCC:A	acceptor_gain	0.9900

AlphaMissense

1458 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:2209380:A:C	F255L	0.979
16:2209380:A:T	F255L	0.979
16:2209382:A:G	F255L	0.979
16:2209591:C:G	C185S	0.974
16:2209592:A:T	C185S	0.974
16:2210011:A:C	F126C	0.974
16:2209591:C:T	C185Y	0.970
16:2210015:A:G	C125R	0.970
16:2209411:A:C	F245C	0.969
16:2209590:G:C	C185W	0.968
16:2210011:A:G	F126S	0.968
16:2210013:G:C	C125W	0.966
16:2210014:C:G	C125S	0.963
16:2210014:C:T	C125Y	0.963
16:2210015:A:T	C125S	0.963
16:2210010:G:C	F126L	0.960
16:2210010:G:T	F126L	0.960
16:2210012:A:G	F126L	0.960
16:2210039:A:C	Y117D	0.960
16:2209381:A:C	F255C	0.958
16:2210040:A:C	C116W	0.957
16:2210139:A:C	F108C	0.955
16:2209998:C:A	M130I	0.952
16:2209998:C:G	M130I	0.952
16:2209998:C:T	M130I	0.952
16:2209381:A:G	F255S	0.951
16:2209410:G:C	F245L	0.951
16:2209410:G:T	F245L	0.951
16:2209412:A:G	F245L	0.951
16:2209592:A:G	C185R	0.947

dbSNP variants (sampled 300 via entrez): RS1002731996 (16:2211153 G>A,T), RS1003215184 (16:2211320 C>G,T), RS1003242181 (16:2209034 C>T), RS1003275110 (16:2209174 C>A,G,T), RS1003813865 (16:2212202 C>A,G), RS1003914057 (16:2209892 C>T), RS1004145341 (16:2212061 C>G,T), RS1005449095 (16:2210487 A>G), RS1006051985 (16:2211567 G>A), RS1006864036 (16:2209796 T>C), RS1007321656 (16:2211980 G>A), RS1007552708 (16:2211188 G>A), RS1007660419 (16:2211827 C>A), RS1008313244 (16:2209373 G>A,C,T), RS1009532217 (16:2211144 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:600273, MIM:616415

GenCC curated gene-disease

Mondo (3): autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (MONDO:0010856), familial adenomatous polyposis 3 (MONDO:0014630), autosomal dominant polycystic kidney disease (MONDO:0004691)

Orphanet (4): Attenuated familial adenomatous polyposis (Orphanet:220460), NTHL1-related polyposis (Orphanet:454840), Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (Orphanet:88924), Autosomal dominant polycystic kidney disease (Orphanet:730)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90000025_78	Appendicular lean mass	2.000000e-27

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004980	appendicular lean mass

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016891	Polycystic Kidney, Autosomal Dominant	C12.050.351.968.419.403.875.500; C12.200.777.419.403.875.500; C12.950.419.403.875.500; C16.131.077.717.500; C16.320.184.625.500
C536328	Polycystic kidneys, severe infantile with tuberous sclerosis (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
perfluorooctanoic acid	decreases expression	1
clothianidin	decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00414440	PHASE4	COMPLETED	Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT03273413	PHASE4	ACTIVE_NOT_RECRUITING	Statin Therapy in Patients With Early Stage ADPKD
NCT03949894	PHASE4	COMPLETED	Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease
NCT00309283	PHASE3	COMPLETED	Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study
NCT00346918	PHASE3	COMPLETED	Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT00428948	PHASE3	COMPLETED	Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01022424	PHASE3	COMPLETED	A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002]
NCT01214421	PHASE3	COMPLETED	Tolvaptan Extension Study in Participants With ADPKD
NCT01377246	PHASE3	COMPLETED	Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency
NCT01616927	PHASE3	UNKNOWN	Study of Lanreotide to Treat Polycystic Kidney Disease
NCT01853553	PHASE3	COMPLETED	Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT02115659	PHASE3	UNKNOWN	Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT02134899	PHASE3	COMPLETED	The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients
NCT02160145	PHASE3	COMPLETED	Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease
NCT02964273	PHASE3	COMPLETED	Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease)
NCT03764605	PHASE3	UNKNOWN	Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease
NCT03918447	PHASE3	TERMINATED	A Trial of Bardoxolone Methyl in Patients With ADPKD - FALCON
NCT04064346	PHASE3	TERMINATED	Efficacy and Safety of Lixivaptan in the Treatment of Autosomal Dominant Polycystic Kidney Disease
NCT04152837	PHASE3	TERMINATED	Safety of Lixivaptan in Subjects Previously Treated With Tolvaptan for Autosomal Dominant Polycystic Kidney Disease
NCT04939935	PHASE3	RECRUITING	Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD)
NCT05373264	PHASE3	RECRUITING	HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of Life
NCT00841568	PHASE2	COMPLETED	A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001]
NCT01210560	PHASE2	COMPLETED	Dose-finding Study of New Tolvaptan Formulation in Subjects With ADPKD
NCT01336972	PHASE2	COMPLETED	Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01451827	PHASE2	COMPLETED	8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01670110	PHASE2	COMPLETED	Pasireotide LAR in Severe Polycystic Liver Disease
NCT01932450	PHASE2	UNKNOWN	Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control
NCT02527863	PHASE2	COMPLETED	Effect of the Aquaretic Tolvaptan on Nitric Oxide System
NCT02616055	PHASE2	TERMINATED	Long-Term Treatment and Follow up of Subjects Completing 24 Months of Treatment With Tesevatinib on Study KD019-101
NCT03203642	PHASE2	COMPLETED	Study of the Efficacy and Safety of Tesevatinib in Subjects With ADPKD
NCT03487913	PHASE2	COMPLETED	The ELiSA Study - Evaluation of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease
NCT03541447	PHASE2	COMPLETED	Tolvaptan-Octreotide LAR Combination in ADPKD
NCT04284657	PHASE2	COMPLETED	Pravastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT04578548	PHASE2	TERMINATED	A Study to Evaluate the Effects of GLPG2737 in Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT05190744	PHASE2	COMPLETED	Probenecid (PB) to Treat Hereditary Nephrogenic Diabetes Insipidus (NDI), ADPKD Treated With Tolvaptan, and Severely Polyuric Patients With Previous Lithium Administration
NCT05870007	PHASE2	ENROLLING_BY_INVITATION	Atorvastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT06100133	PHASE2	UNKNOWN	Treat Autosomal Dominant Polycystic Kidney Disease With Oral Ketone Ester?
NCT06289998	PHASE2	ACTIVE_NOT_RECRUITING	Study of Tamibarotene in Patients With ADPKD
NCT06435858	PHASE2	RECRUITING	Short-term Effects of an SGLT2 Inhibitor on Divalent Ions in Autosomal Dominant Polycystic Kidney Disease
NCT06800651	PHASE2	RECRUITING	Trial of JMKX003142 in Participants With Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD)