CIBAR2

Summary

CIBAR2 (CBY1 interacting BAR domain containing 2, HGNC:24781) is a protein-coding gene on chromosome 16q24.1, encoding CBY1-interacting BAR domain-containing protein 2 (Q6ZTR7). May play a role in ciliogenesis.

Predicted to be involved in cilium assembly. Predicted to be located in cell projection; centriole; and cytoplasm. Predicted to be active in ciliary basal body and ciliary transition zone.

Source: NCBI Gene 339145 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 89 total
• MANE Select transcript: NM_198491

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24781
Approved symbol	CIBAR2
Name	CBY1 interacting BAR domain containing 2
Location	16q24.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ44299
Ensembl gene	ENSG00000153789
Ensembl biotype	protein_coding
OMIM	617274
Entrez	339145

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000539556, ENST00000618669

RefSeq mRNA: 2 — MANE Select: NM_198491 NM_001366920, NM_198491

CCDS: CCDS32500

Canonical transcript exons

ENST00000539556 — 9 exons

Exon	Start	End
ENSE00001012410	85108031	85108099
ENSE00001122032	85110226	85110460
ENSE00001175335	85107846	85107947
ENSE00001255747	85102214	85102327
ENSE00001255752	85105327	85105431
ENSE00001374285	85112333	85112472
ENSE00001378638	85098358	85099346
ENSE00001380119	85100139	85100240
ENSE00002484531	85107667	85107672

Expression profiles

Bgee: expression breadth ubiquitous, 105 present calls, max score 99.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2734 / max 65.0729, expressed in 57 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158381	0.2734	57

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.00	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.39	gold quality
fallopian tube	UBERON:0003889	85.02	gold quality
pituitary gland	UBERON:0000007	83.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.85	gold quality
adenohypophysis	UBERON:0002196	81.06	gold quality
right lung	UBERON:0002167	79.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.00	silver quality
bone marrow cell	CL:0002092	72.55	gold quality
hypothalamus	UBERON:0001898	71.91	gold quality
left uterine tube	UBERON:0001303	69.87	gold quality
quadriceps femoris	UBERON:0001377	65.49	gold quality
thymus	UBERON:0002370	65.30	silver quality
lung	UBERON:0002048	65.19	gold quality
cerebellar vermis	UBERON:0004720	64.61	gold quality
spleen	UBERON:0002106	64.02	gold quality
endometrium	UBERON:0001295	63.15	gold quality
duodenum	UBERON:0002114	62.84	gold quality
upper lobe of left lung	UBERON:0008952	62.44	gold quality
bone marrow	UBERON:0002371	61.10	gold quality
vermiform appendix	UBERON:0001154	60.42	gold quality
cerebellar hemisphere	UBERON:0002245	59.22	gold quality
cerebellar cortex	UBERON:0002129	59.19	gold quality
cerebellum	UBERON:0002037	59.09	gold quality
endocervix	UBERON:0000458	58.73	gold quality
right hemisphere of cerebellum	UBERON:0014890	57.65	gold quality
caudate nucleus	UBERON:0001873	55.01	gold quality
Ammon’s horn	UBERON:0001954	54.42	gold quality
ventricular zone	UBERON:0003053	54.10	gold quality
tonsil	UBERON:0002372	53.21	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	64.91
E-HCAD-1	yes	28.44
E-MTAB-10287	yes	26.03
E-GEOD-130148	yes	10.80
E-GEOD-110499	no	10.85
E-MTAB-8410	no	0.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting CIBAR2, 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-5692A	100.00	74.40	6850
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4496	99.88	68.89	2236
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-5697	99.39	67.74	1249
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-619-5P	98.57	64.97	1988

Literature-anchored findings (GeneRIF, showing 2)

• Genome-wide association studies-reported associations between the NELL1, NCF4, and FAM92B genes and susceptibility to Crohn’s disease could not be replicated in Canadian children and young adults. (PMID:21472827)
• FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes. (PMID:27528616)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cibar2	ENSMUSG00000042269
rattus_norvegicus	Cibar2	ENSRNOG00000021714
drosophila_melanogaster	Fam92	FBGN0032428

Paralogs (1): CIBAR1 (ENSG00000188343)

Protein

Protein identifiers

CBY1-interacting BAR domain-containing protein 2 — Q6ZTR7 (reviewed: Q6ZTR7)

Alternative names: Protein FAM92B

All UniProt accessions (2): A0A087WU51, A0A1X7SC74

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in ciliogenesis. In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis.

Subunit / interactions. Homodimer (via BAR-like domain). Heterodimer (via BAR-like domain) with FAM92A. Interacts with CBY1.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body.

Tissue specificity. Restricted to certain tissues, most prominently expressed in multicilaited tissues.

Domain organisation. The BAR-like domain displays limited similarity to other BAR domains.

Similarity. Belongs to the CIBAR family.

RefSeq proteins (2): NP_001353849, NP_940893* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009602	CBAR/FAM92	Family
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR035590	BAR_CBAR1/2	Domain

Pfam: PF06730

UniProt features (9 total): mutagenesis site 6, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZTR7-F1	81.77	0.71

Functional residue map

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

Mutagenesis-validated functional residues (6):

Position	Phenotype
105	abolishes ability to induce membrane remodeling in the presence of cby1; when associated with e-108; e-112; e-130; e-132
108	abolishes ability to induce membrane remodeling in the presence of cby1; when associated with e-105; e-112; e-130; e-132
112	abolishes ability to induce membrane remodeling in the presence of cby1; when associated with e-105; e-108; e-130; e-132
130	abolishes ability to induce membrane remodeling in the presence of cby1; when associated with e-105; e-108; e-112; e-132
132	abolishes ability to induce membrane remodeling in the presence of cby1; when associated with e-105; e-108; e-112; e-130
134	abolishes ability to induce membrane remodeling in the presence of cby1; when associated with e-105; e-108; e-1112; e-13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 44 (showing top): CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CENTRIOLE, GOCC_CILIARY_TRANSITION_ZONE, RFX1_01, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, MIKKELSEN_MEF_LCP_WITH_H3K27ME3, MARTENS_TRETINOIN_RESPONSE_UP, SUPT16H_TARGET_GENES, ZNF577_TARGET_GENES, ZNF664_TARGET_GENES

GO Biological Process (2): cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (0):

GO Cellular Component (4): centriole (GO:0005814), ciliary transition zone (GO:0035869), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
intracellular membraneless organelle	2
cilium	2
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
cellular anatomical structure	1

Protein interactions and networks

STRING

792 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CIBAR2	NCF4	Q15080	662
CIBAR2	KLHL36	Q8N4N3	626
CIBAR2	PHOX2B	Q99453	625
CIBAR2	KIAA0513	O60268	605
CIBAR2	DYDC2	Q96IM9	604
CIBAR2	ATG16L1	Q676U5	551
CIBAR2	PSTPIP1	O43586	524
CIBAR2	SNX33	Q8WV41	519
CIBAR2	CBY1	Q9Y3M2	512
CIBAR2	DZIP1L	Q8IYY4	491
CIBAR2	IL17RE	Q8NFR9	490
CIBAR2	IL17REL	Q6ZVW7	490
CIBAR2	CEP164	Q9UPV0	489
CIBAR2	PIBF1	Q8WXW3	478
CIBAR2	CCDC191	Q8NCU4	473

IntAct

5 interactions, top by confidence:

A	B	Type	Score
CIBAR2	INO80E	psi-mi:“MI:0915”(physical association)	0.400
CIBAR2		psi-mi:“MI:0915”(physical association)	0.370
CAMK2D	OGT	psi-mi:“MI:0914”(association)	0.350
OR4X2	PCBP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): FAM92B (Synthetic Lethality), INO80E (Affinity Capture-MS), FAM92B (Affinity Capture-MS), FAM92B (Affinity Capture-MS), FAM92B (Affinity Capture-MS), FAM92B (Affinity Capture-MS), FAM92B (Affinity Capture-MS)

ESM2 similar proteins: A1XBS5, B0S6J3, D4A208, O35180, O35964, O43295, O75044, P0DJJ0, P0DMP2, P25343, Q08DK5, Q15057, Q1LU86, Q1RMK1, Q2VR06, Q32LM0, Q3SZG6, Q3V2J0, Q5AFE4, Q5FVC7, Q5PPJ9, Q5PPZ5, Q5R8P5, Q5ZIR1, Q5ZJ81, Q5ZK62, Q62419, Q62421, Q68FW8, Q6AYE2, Q6GN09, Q6IVG4, Q6ZQK5, Q6ZTR7, Q7Z6B7, Q812A2, Q8AXU9, Q8BP22, Q8I190, Q8I1C0

Diamond homologs: A1XBS5, Q1LU86, Q1RMK1, Q2VR06, Q3SZG6, Q3V2J0, Q6GN09, Q6ZTR7, Q8BP22, Q9VK91

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1491 predictions. Top by Δscore:

Variant	Effect	Δscore
16:85102208:ACT:A	donor_loss	1.0000
16:85102209:CTC:C	donor_loss	1.0000
16:85102210:TCACC:T	donor_loss	1.0000
16:85102211:CA:C	donor_loss	1.0000
16:85102212:A:AC	donor_gain	1.0000
16:85102213:C:CC	donor_gain	1.0000
16:85102323:AATTT:A	acceptor_gain	1.0000
16:85102324:ATTT:A	acceptor_gain	1.0000
16:85102325:TTT:T	acceptor_gain	1.0000
16:85102326:TT:T	acceptor_gain	1.0000
16:85102327:TC:T	acceptor_loss	1.0000
16:85102328:C:A	acceptor_loss	1.0000
16:85102328:C:CC	acceptor_gain	1.0000
16:85105321:CCTCA:C	donor_loss	1.0000
16:85105322:CTCA:C	donor_loss	1.0000
16:85105323:TCACC:T	donor_loss	1.0000
16:85105324:CA:C	donor_loss	1.0000
16:85105326:C:CT	donor_loss	1.0000
16:85105439:C:CT	acceptor_gain	1.0000
16:85105439:C:T	acceptor_gain	1.0000
16:85105440:A:T	acceptor_gain	1.0000
16:85107831:T:TA	donor_gain	1.0000
16:85107844:A:AC	donor_gain	1.0000
16:85107845:C:CC	donor_gain	1.0000
16:85107845:CG:C	donor_gain	1.0000
16:85107845:CGAT:C	donor_gain	1.0000
16:85107946:GCCTG:G	acceptor_loss	1.0000
16:85107947:CCTG:C	acceptor_loss	1.0000
16:85107948:C:CC	acceptor_gain	1.0000
16:85107949:T:A	acceptor_loss	1.0000

AlphaMissense

2011 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:85110236:C:G	R82P	0.976
16:85102289:G:C	F192L	0.959
16:85102289:G:T	F192L	0.959
16:85102291:A:G	F192L	0.959
16:85102279:C:G	A196P	0.953
16:85110323:A:G	L53P	0.943
16:85110257:A:G	L75P	0.934
16:85102310:A:C	F185L	0.933
16:85102310:A:T	F185L	0.933
16:85102312:A:G	F185L	0.933
16:85102299:T:A	E189V	0.927
16:85110266:G:T	A72D	0.921
16:85110244:C:A	Q79H	0.918
16:85110244:C:G	Q79H	0.918
16:85102298:C:A	E189D	0.913
16:85102298:C:G	E189D	0.913
16:85110255:C:G	A76P	0.906
16:85110231:C:G	A84P	0.905
16:85110353:C:G	R43P	0.905
16:85102285:C:G	A194P	0.902
16:85105354:G:C	F170L	0.902
16:85105354:G:T	F170L	0.902
16:85105356:A:G	F170L	0.902
16:85102264:A:G	S201P	0.894
16:85102267:A:C	Y200D	0.894
16:85102258:C:G	A203P	0.893
16:85110267:C:G	A72P	0.893
16:85110356:A:G	L42P	0.893
16:85102281:T:A	K195I	0.889
16:85110345:C:G	A46P	0.889

dbSNP variants (sampled 300 via entrez): RS1000065261 (16:85108191 C>T), RS1000119533 (16:85109989 C>T), RS1000291687 (16:85108204 G>C), RS1000423872 (16:85110119 AC>A), RS1000454778 (16:85110773 T>A,C), RS1000697221 (16:85107385 TG>T), RS1000762901 (16:85106704 G>A), RS1000789098 (16:85104078 C>G), RS1001083986 (16:85098238 G>A), RS1001098983 (16:85100819 G>A,C), RS1001273206 (16:85100415 C>G,T), RS1001512952 (16:85113134 C>T), RS1001623379 (16:85098136 G>A,C), RS1001662944 (16:85109731 T>C), RS1002200242 (16:85107151 A>G)

Disease associations

OMIM: gene MIM:617274 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009615_18	Triglyceride levels x loop diuretics use interaction	3.000000e-07
GCST010242_224	HDL cholesterol levels	9.000000e-09
GCST010244_372	Triglyceride levels	7.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Camptothecin	increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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