BOD1L2

Summary

BOD1L2 (biorientation of chromosomes in cell division 1 like 2, HGNC:28505) is a protein-coding gene on chromosome 18q21.31, encoding Biorientation of chromosomes in cell division protein 1-like 2 (Q8IYS8). May play a role in proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.

Predicted to be involved in cell division. Predicted to be located in centrosome; cytoplasm; and kinetochore.

Source: NCBI Gene 284257 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 5 total — 1 pathogenic
• MANE Select transcript: NM_001257964

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28505
Approved symbol	BOD1L2
Name	biorientation of chromosomes in cell division 1 like 2
Location	18q21.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC33608
Ensembl gene	ENSG00000228075
Ensembl biotype	protein_coding
Entrez	284257

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000585477

RefSeq mRNA: 1 — MANE Select: NM_001257964 NM_001257964

CCDS: CCDS59322

Canonical transcript exons

ENST00000585477 — 1 exons

Exon	Start	End
ENSE00002942000	57147087	57150410

Expression profiles

Bgee: expression breadth broad, 63 present calls, max score 99.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.6248 / max 1652.7754, expressed in 16 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170343	1.2739	8
170344	0.3113	4
170345	0.0397	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.91	gold quality
adult organism	UBERON:0007023	99.30	gold quality
left testis	UBERON:0004533	98.55	gold quality
right testis	UBERON:0004534	98.44	gold quality
testis	UBERON:0000473	95.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.16	gold quality
oocyte	CL:0000023	75.60	gold quality
secondary oocyte	CL:0000655	71.13	silver quality
kidney epithelium	UBERON:0004819	69.62	gold quality
cauda epididymis	UBERON:0004360	68.46	gold quality
epithelial cell of pancreas	CL:0000083	66.29	gold quality
buccal mucosa cell	CL:0002336	64.30	gold quality
pancreatic ductal cell	CL:0002079	63.44	silver quality
cerebellar vermis	UBERON:0004720	63.24	gold quality
tibialis anterior	UBERON:0001385	60.79	silver quality
caput epididymis	UBERON:0004358	58.62	gold quality
epithelium of nasopharynx	UBERON:0001951	56.06	gold quality
amniotic fluid	UBERON:0000173	55.29	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
deltoid	UBERON:0001476	52.08	gold quality
corpus epididymis	UBERON:0004359	51.94	gold quality
myocardium	UBERON:0002349	50.25	gold quality
quadriceps femoris	UBERON:0001377	48.48	gold quality
ileal mucosa	UBERON:0000331	48.32	silver quality
thymus	UBERON:0002370	47.79	silver quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
upper leg skin	UBERON:0004262	46.75	silver quality
vastus lateralis	UBERON:0001379	45.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	31.54
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting BOD1L2, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-5582-3P	99.86	72.48	4221

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Bod1	ENSMUSG00000044502
rattus_norvegicus	Bod1	ENSRNOG00000020717

Paralogs (2): BOD1L1 (ENSG00000038219), BOD1 (ENSG00000145919)

Protein

Protein identifiers

Biorientation of chromosomes in cell division protein 1-like 2 — Q8IYS8 (reviewed: Q8IYS8)

Alternative names: Biorientation of chromosomes in cell division protein 1 pseudogene, Protein FAM44C

All UniProt accessions (1): Q8IYS8

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Chromosome. Centromere. Kinetochore.

Similarity. Belongs to the BOD1 family.

RefSeq proteins (1): NP_001244893* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR043244	BOD1L1	Family
IPR055264	BOD1/SHG1_dom	Domain

Pfam: PF05205

UniProt features (6 total): region of interest 2, compositionally biased region 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYS8-F1	75.49	0.17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 39 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GOCC_CHROMOSOMAL_REGION, GOBP_CELL_DIVISION, GOCC_CONDENSED_CHROMOSOME_CENTROMERIC_REGION, chr18q21, GOCC_SUPRAMOLECULAR_COMPLEX, MIR607, MIR651_3P, MIR548E_5P, MIR3671, MIR1297, MIR1250_3P, MIR182_5P, MIR4251

GO Biological Process (1): cell division (GO:0051301)

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

GO Cellular Component (6): kinetochore (GO:0000776), centrosome (GO:0005813), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	3
cellular process	1
binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
centriole	1
microtubule organizing center	1
chromosomal region	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

428 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BOD1L2	F5GXT2	F5GXT2	509
BOD1L2	ZCCHC18	P0CG32	507
BOD1L2	CFAP276	Q5T5A4	478
BOD1L2	ZNF729	A6NN14	452
BOD1L2	C14orf132	Q9NPU4	434
BOD1L2	ZNF479	Q96JC4	424
BOD1L2	PTPN20	Q4JDL3	399
BOD1L2	GARIN5B	Q8N5Q1	376
BOD1L2	TSSK2	Q96PF2	359
BOD1L2	STARD9	Q9P2P6	357
BOD1L2	ZNF532	Q9HCE3	346
BOD1L2	CCDC68	Q9H2F9	340
BOD1L2	SEC11C	Q9BY50	340
BOD1L2	ZBED8L	Q8TCP9	330
BOD1L2	ZCCHC12	Q6PEW1	325

IntAct

19 interactions, top by confidence:

A	B	Type	Score
MEOX2	BOD1L2	psi-mi:“MI:0915”(physical association)	0.560
PRKAR1B	BOD1L2	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	BOD1L2	psi-mi:“MI:0915”(physical association)	0.560
CRX	BOD1L2	psi-mi:“MI:0915”(physical association)	0.560
BOD1L2	LHX4	psi-mi:“MI:0915”(physical association)	0.560
LINC03122	H2AX	psi-mi:“MI:0914”(association)	0.530
BOD1	BPGM	psi-mi:“MI:0914”(association)	0.350
BOD1L2	BPGM	psi-mi:“MI:0914”(association)	0.350
BOD1L2	MEOX2	psi-mi:“MI:0915”(physical association)	0.000
BOD1L2	LHX4	psi-mi:“MI:0915”(physical association)	0.000
BOD1L2	PRKAR1B	psi-mi:“MI:0915”(physical association)	0.000
BOD1L2	TRAF2	psi-mi:“MI:0915”(physical association)	0.000
BOD1L2	CRX	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): BOD1L2 (Affinity Capture-MS), BOD1L2 (Affinity Capture-MS), BOD1L2 (Two-hybrid), BOD1L2 (Two-hybrid), BOD1L2 (Two-hybrid), BOD1L2 (Two-hybrid), BOD1L2 (Two-hybrid), BOD1L2 (Affinity Capture-MS), BOD1 (Affinity Capture-MS), BPGM (Affinity Capture-MS), DCP1B (Affinity Capture-MS), BOD1L2 (Affinity Capture-MS), FMN2 (Affinity Capture-MS), MSL3 (Affinity Capture-MS), ATG4A (Affinity Capture-MS)

ESM2 similar proteins: A5A6J5, D4AB66, E2RSQ2, F1M5F3, F1N2W9, F1QDI9, I0IUP4, O14795, P17863, P22681, P22682, P49797, Q02040, Q15014, Q24K03, Q2KHI9, Q2KJ58, Q2T9Y1, Q2YDJ8, Q496Y0, Q4KUS2, Q4R578, Q52L14, Q56K12, Q5C9Z4, Q5F3L9, Q5M7C8, Q5R6Y9, Q5R905, Q62768, Q62769, Q66JB6, Q69ZT9, Q6QI89, Q8BND4, Q8BZ60, Q8HXH0, Q8IYS8, Q8N5Y2, Q8VDV3

Diamond homologs: E9Q6J5, Q5SQY2, Q68FB1, Q6AYJ2, Q6DFL2, Q8IYS8, Q8NFC6, Q96IK1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
60000	GRCh38/hg38 18q21.2-21.31(chr18:55575588-57207463)x1	Pathogenic

SpliceAI

6 predictions. Top by Δscore:

Variant	Effect	Δscore
18:57147575:A:T	donor_gain	0.3600
18:57147871:T:TA	acceptor_gain	0.3400
18:57149966:T:G	acceptor_gain	0.2300
18:57147089:G:GT	donor_gain	0.2100
18:57147574:G:GT	donor_gain	0.2100
18:57147820:G:GT	donor_gain	0.2100

AlphaMissense

1128 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:57147739:T:C	F143L	0.900
18:57147741:C:A	F143L	0.900
18:57147741:C:G	F143L	0.900
18:57147466:T:C	F52L	0.794
18:57147468:T:A	F52L	0.794
18:57147468:T:G	F52L	0.794
18:57147706:T:C	F132L	0.749
18:57147708:C:A	F132L	0.749
18:57147708:C:G	F132L	0.749
18:57147475:T:C	F55L	0.748
18:57147477:C:A	F55L	0.748
18:57147477:C:G	F55L	0.748
18:57147547:T:C	F79L	0.642
18:57147549:T:A	F79L	0.642
18:57147549:T:G	F79L	0.642
18:57147453:G:C	K47N	0.636
18:57147453:G:T	K47N	0.636
18:57147425:T:C	L38P	0.628
18:57147437:T:A	I42N	0.606

dbSNP variants (sampled 300 via entrez): RS1000350033 (18:57150403 G>A), RS1000450521 (18:57148305 G>A), RS1002901212 (18:57150660 A>G), RS1003179374 (18:57145150 C>T), RS1003266131 (18:57148736 C>A), RS1003624390 (18:57146162 G>A), RS1004040785 (18:57146464 A>G), RS1004532283 (18:57149972 A>G), RS1004741838 (18:57145221 A>G), RS1004875311 (18:57150692 AAC>A), RS1005627181 (18:57146799 C>T), RS1005964184 (18:57145386 C>T), RS1006927348 (18:57147691 A>C), RS1008772572 (18:57147216 C>G,T), RS1008940484 (18:57145646 G>A)

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
GCST006479_52	Diverticular disease	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009959	diverticular disease

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	decreases expression	1
CGP 52608	increases reaction, affects binding	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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