BBLN

Summary

BBLN (bublin coiled coil protein, HGNC:17823) is a protein-coding gene on chromosome 9q34.11, encoding Bublin coiled-coil protein (Q9BUW7). Essential for intermediate filament organization in intestinal cells, interacts with intermediate filament and regulates intestinal lumen morphology.

Enables molecular adaptor activity. Involved in intermediate filament bundle assembly. Located in cell junction; polymeric cytoskeletal fiber; and subapical part of cell.

Source: NCBI Gene 79095 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_024112

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17823
Approved symbol	BBLN
Name	bublin coiled coil protein
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	Hero9, MGC4639, EST00098, FLJ12823
Ensembl gene	ENSG00000171159
Ensembl biotype	protein_coding
Entrez	79095

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000372994, ENST00000486420, ENST00000489240, ENST00000492588

RefSeq mRNA: 1 — MANE Select: NM_024112 NM_024112

CCDS: CCDS6893

Canonical transcript exons

ENST00000372994 — 2 exons

Exon	Start	End
ENSE00001146045	128163443	128163924
ENSE00001459261	128160265	128160486

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 114.6032 / max 688.3489, expressed in 1828 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98730	80.0674	1827
98729	24.6758	1816
98731	9.8599	1757

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	99.04	gold quality
right adrenal gland	UBERON:0001233	99.00	gold quality
left adrenal gland cortex	UBERON:0035825	98.99	gold quality
left adrenal gland	UBERON:0001234	98.93	gold quality
adrenal cortex	UBERON:0001235	98.90	gold quality
amygdala	UBERON:0001876	98.83	gold quality
endometrium epithelium	UBERON:0004811	98.64	gold quality
right frontal lobe	UBERON:0002810	98.60	gold quality
cingulate cortex	UBERON:0003027	98.46	gold quality
anterior cingulate cortex	UBERON:0009835	98.42	gold quality
prefrontal cortex	UBERON:0000451	98.39	gold quality
CA1 field of hippocampus	UBERON:0003881	98.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.71	gold quality
skin of leg	UBERON:0001511	97.69	gold quality
skin of abdomen	UBERON:0001416	97.68	gold quality
Ammon’s horn	UBERON:0001954	97.68	gold quality
nucleus accumbens	UBERON:0001882	97.50	gold quality
caudate nucleus	UBERON:0001873	97.44	gold quality
adrenal gland	UBERON:0002369	97.39	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.39	gold quality
frontal cortex	UBERON:0001870	97.27	gold quality
granulocyte	CL:0000094	97.22	gold quality
putamen	UBERON:0001874	97.21	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.18	gold quality
neocortex	UBERON:0001950	97.08	gold quality
lower esophagus mucosa	UBERON:0035834	97.08	gold quality
right coronary artery	UBERON:0001625	96.94	gold quality
thoracic aorta	UBERON:0001515	96.88	gold quality
ascending aorta	UBERON:0001496	96.87	gold quality
temporal lobe	UBERON:0001871	96.83	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-46	yes	20.84
E-HCAD-10	yes	17.42
E-MTAB-10042	yes	9.08
E-GEOD-125970	yes	7.61
E-HCAD-13	yes	7.52
E-CURD-120	no	31.57
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting BBLN, 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-6825-5P	99.96	69.81	3431
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
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-939-3P	98.97	65.07	2347
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-7114-3P	98.42	66.53	569
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-1180-5P	98.16	65.32	460
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-4281	92.91	63.60	271

Literature-anchored findings (GeneRIF, showing 1)

• C9orf16 represents the aberrant genetic programs and drives the progression of PDAC. (PMID:36307773)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	bbln	ENSDARG00000086753
mus_musculus	Bbln	ENSMUSG00000039195

Protein

Protein identifiers

Bublin coiled-coil protein — Q9BUW7 (reviewed: Q9BUW7)

Alternative names: UPF0184 protein C9orf16

All UniProt accessions (1): Q9BUW7

UniProt curated annotations — full annotation on UniProt →

Function. Essential for intermediate filament organization in intestinal cells, interacts with intermediate filament and regulates intestinal lumen morphology.

Subcellular location. Cell junction. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the UPF0184 (EST00098) family.

RefSeq proteins (1): NP_077017* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005374	BBLN_eukaryota	Family

Pfam: PF03670

UniProt features (5 total): chain 1, region of interest 1, coiled-coil region 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUW7-F1	82.25	0.56

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): 82

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 167 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, CAGCTG_AP4_Q5, PATIL_LIVER_CANCER, GOBP_BONE_DEVELOPMENT, AP1_Q4_01, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP

GO Biological Process (8): gene expression (GO:0010467), intermediate filament bundle assembly (GO:0045110), bone resorption (GO:0045453), bone development (GO:0060348), multinuclear osteoclast differentiation (GO:0072674), apoptotic signaling pathway (GO:0097190), apoptotic process (GO:0006915), osteoclast differentiation (GO:0030316)

GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (7): intermediate filament (GO:0005882), cell junction (GO:0030054), anchoring junction (GO:0070161), subapical part of cell (GO:0120219), cytoplasm (GO:0005737), kinetochore microtubule (GO:0005828), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
macromolecule biosynthetic process	1
cellular component assembly	1
intermediate filament organization	1
tissue homeostasis	1
bone remodeling	1
skeletal system development	1
animal organ development	1
osteoclast differentiation	1
apoptotic process	1
signal transduction	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
myeloid leukocyte differentiation	1
molecular_function	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
cell junction	1
intracellular anatomical structure	1
spindle microtubule	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BBLN	C19orf53	Q9UNZ5	432
BBLN	A0A2U3TZT1	A0A2U3TZT1	431
BBLN	DNAL4	O96015	397
BBLN	TLCD1	Q96CP7	397
BBLN	STEEP1	Q9H5V9	379
BBLN	OCEL1	Q9H607	377
BBLN	DHRS12	A0PJE2	369
BBLN	C1orf115	Q9H7X2	355
BBLN	LRRC73	Q5JTD7	347
BBLN	ANKRD13D	Q6ZTN6	347
BBLN	TEPSIN	Q96N21	325
BBLN	CHLSN	Q9BRJ6	322
BBLN	SPSB2	Q99619	320
BBLN	SERF2	P84101	317
BBLN	PHYHD1	Q5SRE7	306
BBLN	PPDPF	Q9H3Y8	306

IntAct

86 interactions, top by confidence:

A	B	Type	Score
KRT20	BBLN	psi-mi:“MI:0915”(physical association)	0.810
BBLN	KRT20	psi-mi:“MI:0915”(physical association)	0.810
BBLN	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.780
ATP6V1D	BBLN	psi-mi:“MI:0915”(physical association)	0.780
CEP290	BBLN	psi-mi:“MI:0915”(physical association)	0.720
BBLN	CEP290	psi-mi:“MI:0915”(physical association)	0.720
ATP6V1D	BBLN	psi-mi:“MI:0915”(physical association)	0.560
BBLN	IKBIP	psi-mi:“MI:0915”(physical association)	0.560
ATP6V1E2	BBLN	psi-mi:“MI:0915”(physical association)	0.560
BBLN	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.560
IKBIP	BBLN	psi-mi:“MI:0915”(physical association)	0.560
BBLN	ATP6V1E2	psi-mi:“MI:0915”(physical association)	0.560
BBLN	VMA8	psi-mi:“MI:0915”(physical association)	0.560
BBLN	SNN1	psi-mi:“MI:0915”(physical association)	0.560
VMA8	BBLN	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (39): C9orf16 (Two-hybrid), C9orf16 (Two-hybrid), C9orf16 (Two-hybrid), CEP290 (Two-hybrid), ATP6V1E2 (Two-hybrid), IKBIP (Two-hybrid), C9orf16 (Affinity Capture-MS), C9orf16 (Affinity Capture-MS), C9orf16 (Affinity Capture-MS), C9orf16 (Two-hybrid), ATP6V1E2 (Two-hybrid), C9orf16 (Affinity Capture-MS), C9orf16 (Affinity Capture-MS), C9orf16 (Affinity Capture-MS), C9orf16 (Affinity Capture-MS)

ESM2 similar proteins: B2RXB2, B5X3I1, C9JCN9, D4A7N1, D4A9E1, O75506, P58686, Q0P4J3, Q0VCF3, Q13503, Q2NKS9, Q3TY65, Q3ZC22, Q4R6N3, Q4V7L5, Q5E9D3, Q5EAU9, Q5FWT9, Q5R561, Q5R8J5, Q5RDI2, Q5RE46, Q5RGJ6, Q5ZKJ4, Q66H15, Q68EW7, Q6DF11, Q6ID77, Q6IP02, Q6P255, Q6TA25, Q7SYL1, Q7T338, Q8AVR2, Q8GW48, Q8K3X8, Q8R0H9, Q99LE1, Q9BRQ6, Q9BRV8

Diamond homologs: B5FY93, O73881, P0C8Y3, P58686, Q2NKS9, Q6SXP0, Q9BUW7, Q8N1Y9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

391 predictions. Top by Δscore:

Variant	Effect	Δscore
9:128160480:G:T	donor_gain	1.0000
9:128163441:A:AG	acceptor_gain	1.0000
9:128163441:AGAAT:A	acceptor_loss	1.0000
9:128163442:G:GA	acceptor_gain	1.0000
9:128163442:GA:G	acceptor_gain	1.0000
9:128163442:GAA:G	acceptor_gain	1.0000
9:128163442:GAAT:G	acceptor_gain	1.0000
9:128160456:G:GT	donor_gain	0.9900
9:128160465:G:GT	donor_gain	0.9900
9:128160468:G:GT	donor_gain	0.9900
9:128160480:G:GT	donor_gain	0.9900
9:128163429:C:CA	acceptor_gain	0.9900
9:128163442:GAATA:G	acceptor_gain	0.9900
9:128160483:GCAGG:G	donor_loss	0.9800
9:128160484:C:T	donor_gain	0.9800
9:128160485:AGGTG:A	donor_loss	0.9800
9:128160486:GGT:G	donor_loss	0.9800
9:128160487:G:T	donor_loss	0.9800
9:128160497:G:GT	donor_gain	0.9800
9:128162132:GCC:G	donor_gain	0.9800
9:128160461:C:T	donor_gain	0.9700
9:128162196:G:GT	donor_gain	0.9700
9:128160483:GCAG:G	donor_gain	0.9600
9:128162113:C:T	donor_gain	0.9600
9:128163447:C:G	acceptor_gain	0.9600
9:128160662:GCCCC:G	donor_gain	0.9500
9:128160527:G:GT	donor_gain	0.9400
9:128160528:G:T	donor_gain	0.9400
9:128160605:TCCG:T	donor_gain	0.9400
9:128160443:G:GA	donor_gain	0.9300

AlphaMissense

545 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:128163467:T:C	L35P	0.999
9:128163476:T:C	I38T	0.999
9:128163476:T:G	I38S	0.999
9:128163488:T:C	L42P	0.999
9:128163530:T:C	L56P	0.999
9:128163539:T:C	L59P	0.999
9:128163467:T:A	L35Q	0.998
9:128163488:T:A	L42Q	0.998
9:128163547:T:C	S62P	0.998
9:128163473:A:C	Q37P	0.997
9:128163476:T:A	I38N	0.997
9:128163497:T:C	L45P	0.997
9:128163518:T:C	L52P	0.997
9:128163455:T:A	I31N	0.996
9:128163510:T:A	N49K	0.996
9:128163510:T:G	N49K	0.996
9:128163542:T:C	L60P	0.996
9:128163554:G:C	R64P	0.996
9:128163455:T:G	I31S	0.995
9:128163508:A:G	N49D	0.995
9:128163518:T:A	L52H	0.995
9:128163530:T:A	L56H	0.995
9:128163459:C:A	N32K	0.994
9:128163459:C:G	N32K	0.994
9:128163509:A:T	N49I	0.994
9:128163552:C:A	N63K	0.994
9:128163552:C:G	N63K	0.994
9:128163445:T:C	Y28H	0.993
9:128163497:T:A	L45Q	0.993
9:128163539:T:A	L59Q	0.993

dbSNP variants (sampled 300 via entrez): RS1000077164 (9:128159037 A>G,T), RS1001073189 (9:128160214 C>G,T), RS1001408930 (9:128164238 C>T), RS1001567191 (9:128158289 G>C), RS1001867983 (9:128159767 C>A,G,T), RS1001934098 (9:128158498 C>G), RS1002235715 (9:128163898 G>C), RS1002302534 (9:128159498 T>C), RS1003717887 (9:128163031 C>G,T), RS1003881129 (9:128162304 G>A), RS1004136077 (9:128160825 G>T), RS1004250616 (9:128161106 TAGC>T), RS1004315212 (9:128162137 G>A), RS1005185819 (9:128159736 G>A), RS1006188249 (9:128158400 G>A,C)

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

1 associations (top):

Study	Trait	p-value
GCST005951_65	Body mass index	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Acetaminophen	increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Tobacco Smoke Pollution	increases expression, increases methylation	2
Valproic Acid	affects expression, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
tobacco tar	decreases expression	1
coumarin	decreases phosphorylation	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Bortezomib	decreases expression	1
Zoledronic Acid	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Aspirin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Potassium Dichromate	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Thimerosal	decreases expression	1
Vitallium	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Isotretinoin	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1

Clinical trials (associated diseases)

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