ODF2

Summary

ODF2 (outer dense fiber of sperm tails 2, HGNC:8114) is a protein-coding gene on chromosome 9q34.11, encoding Outer dense fiber protein 2 (Q5BJF6). Seems to be a major component of sperm tail outer dense fibers (ODF).

The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as ‘Cenexins’, encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers.

Source: NCBI Gene 4957 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 113 total — 1 likely-pathogenic
• MANE Select transcript: NM_001351578

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8114
Approved symbol	ODF2
Name	outer dense fiber of sperm tails 2
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	ODF84, CT134
Ensembl gene	ENSG00000136811
Ensembl biotype	protein_coding
OMIM	602015
Entrez	4957

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 16 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron

ENST00000351030, ENST00000372791, ENST00000372807, ENST00000372814, ENST00000393527, ENST00000393533, ENST00000421776, ENST00000432065, ENST00000434106, ENST00000444119, ENST00000444993, ENST00000446274, ENST00000448249, ENST00000469582, ENST00000470061, ENST00000483070, ENST00000488909, ENST00000497812, ENST00000546203, ENST00000604420, ENST00000686232, ENST00000688016

RefSeq mRNA: 23 — MANE Select: NM_001351578 NM_001242352, NM_001242353, NM_001242354, NM_001351577, NM_001351578, NM_001351579, NM_001351580, NM_001351581, NM_001351582, NM_001351583, NM_001351584, NM_001351585, NM_001351586, NM_001351587, NM_001351588, NM_002540, NM_153432, NM_153433, NM_153435, NM_153436, NM_153437, NM_153439, NM_153440

CCDS: CCDS56585, CCDS56586, CCDS56587, CCDS56588, CCDS56589, CCDS56590, CCDS6902, CCDS94497, CCDS94498

Canonical transcript exons

ENST00000351030 — 21 exons

Exon	Start	End
ENSE00002233879	128456006	128456255
ENSE00003498571	128460550	128460666
ENSE00003503631	128500067	128501292
ENSE00003702789	128482816	128482887
ENSE00003702931	128484701	128484886
ENSE00003703130	128487890	128488025
ENSE00003703887	128485365	128485474
ENSE00003704309	128494510	128494668
ENSE00003704542	128469183	128469353
ENSE00003704692	128460942	128461067
ENSE00003705620	128496041	128496141
ENSE00003706359	128483938	128484054
ENSE00003707309	128498413	128498575
ENSE00003708508	128492426	128492536
ENSE00003708522	128492701	128492805
ENSE00003709593	128459567	128459657
ENSE00003709697	128471308	128471468
ENSE00003709767	128481580	128481651
ENSE00003710720	128472913	128473042
ENSE00003711462	128499001	128499126
ENSE00003785187	128473610	128473741

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 99.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.0631 / max 485.8185, expressed in 1813 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98787	31.9868	1813
98789	0.2881	44
98785	0.2677	129
98794	0.1948	72
98786	0.1010	23
98801	0.0647	8
98792	0.0540	4
98793	0.0418	7
98791	0.0368	3
98790	0.0195	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.42	gold quality
left testis	UBERON:0004533	99.30	gold quality
right testis	UBERON:0004534	99.22	gold quality
male germ cell	CL:0000015	98.74	gold quality
adult organism	UBERON:0007023	97.04	gold quality
testis	UBERON:0000473	96.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.41	gold quality
right uterine tube	UBERON:0001302	94.15	gold quality
cerebellar hemisphere	UBERON:0002245	94.11	gold quality
cerebellar cortex	UBERON:0002129	93.87	gold quality
adenohypophysis	UBERON:0002196	93.87	gold quality
pituitary gland	UBERON:0000007	92.88	gold quality
stromal cell of endometrium	CL:0002255	92.15	gold quality
ventricular zone	UBERON:0003053	92.05	gold quality
sural nerve	UBERON:0015488	91.68	gold quality
tendon of biceps brachii	UBERON:0008188	91.41	gold quality
cerebellum	UBERON:0002037	91.18	gold quality
endocervix	UBERON:0000458	91.09	gold quality
body of uterus	UBERON:0009853	90.84	gold quality
left uterine tube	UBERON:0001303	90.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.79	gold quality
lower esophagus	UBERON:0013473	89.75	gold quality
ectocervix	UBERON:0012249	89.72	gold quality
granulocyte	CL:0000094	89.69	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.54	gold quality
ganglionic eminence	UBERON:0004023	89.40	gold quality
calcaneal tendon	UBERON:0003701	89.36	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.83	gold quality
right ovary	UBERON:0002118	88.81	gold quality
tibial artery	UBERON:0007610	88.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	32.97
E-ANND-3	yes	6.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1, PAX6, RFX3, TBXT

miRNA regulators (miRDB)

58 targeting ODF2, 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-3646	100.00	73.56	5283
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615

Literature-anchored findings (GeneRIF, showing 13)

• We propose that hCenexin1 is a critical centrosomal component whose C-terminal extension is required for proper recruitment of Plk1 and other components crucial for normal mitosis. (PMID:16966375)
• A splice variant of hODF2 called hCenexin1, but not hODF2 itself, efficiently localizes to somatic centrosomes via a variant-specific C-terminal extension and recruits Plk1 through a Cdc2-dependent phospho-S796 motif within the extension. (PMID:19386263)
• Cdk5 in the centriolar appendages mediates cenexin1 localization and primary cilia formation. (PMID:20234188)
• Trichoplein controls microtubule anchoring at the centrosome by binding to Odf2 and ninein. (PMID:21325031)
• Cby plays an important role in organization of both primary and motile cilia in collaboration with Cnx. (PMID:22911743)
• Cenexin controls centrosome positioning during cell migration by modulating microtubule organization and stability.Cenexin is required for spindle orientation. (PMID:26948879)
• Odf2 interacts with Cep128 to form the subdistal appendage of the centriole. (PMID:30623524)
• C3G localizes to the mother centriole in a cenexin-dependent manner and regulates centrosome duplication and primary cilium length. (PMID:32371504)
• MicroRNA-targeting in spermatogenesis: Over-expressions of microRNA-23a/b-3p and its affected targeting of the genes ODF2 and UBQLN3 in spermatozoa of patients with oligoasthenozoospermia. (PMID:33784796)
• alpha-/gamma-Taxilin are required for centriolar subdistal appendage assembly and microtubule organization. (PMID:35119360)
• Pericentriolar matrix (PCM) integrity relies on cenexin and polo-like kinase (PLK)1. (PMID:35609215)
• Sperm DNA fragmentation and apoptosis in the sperm of men with oligozoospermia are closely related to anti-ODF2 autoantibodies. (PMID:37086632)
• Mouse and rat ODF2 protein homolog sequences and expression are compared. (PMID:9740324)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	odf2b	ENSDARG00000020702
danio_rerio	odf2a	ENSDARG00000028900
mus_musculus	Odf2	ENSMUSG00000026790
rattus_norvegicus	Odf2	ENSRNOG00000014584

Paralogs (1): ODF2L (ENSG00000122417)

Protein

Protein identifiers

Outer dense fiber protein 2 — Q5BJF6 (reviewed: Q5BJF6)

Alternative names: Cenexin, Outer dense fiber of sperm tails protein 2

All UniProt accessions (12): A0A8I5KUN7, A0A8I5KWC9, A0A8J8YVX4, A0A8J8Z1C3, A0A8J8ZBD8, Q5BJF6, Q5T4C3, Q5T4C6, Q5T4C8, S4R3R9, S4R411, S4R462

UniProt curated annotations — full annotation on UniProt →

Function. Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to the centrosomes. Required for the formation and/or maintenance of normal CETN1 assembly.

Subunit / interactions. Self-associates. Associates with microtubules and forms a fibrillar structure partially linked to the microtubule network. Interacts via its C-terminus with PLK1. Interacts with ODF1. Interacts with MARK4; the interaction is required for localization of ODF2 to centrioles. Interacts with TSSK4. Interacts with AKNA. Interacts with QRICH2. Interacts with CFAP58. Interacts with BBOF1. Interacts with CCDC38. Interacts with CCDC42. Interacts with CEP128; the interaction is required for the formation of the subdistal appendage of the centriole.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cell projection. Cilium. Centriole. Spindle pole. Flagellum.

Tissue specificity. Testis-specific (at protein level). Highly expressed in cytoplasm of step 2 round spermatids. Detected in the middle piece and extends to about half the principal piece of the sperm tails.

Post-translational modifications. Tyrosine phosphorylated. Phosphorylated by TSSK4 on Ser-95.

Miscellaneous. Major.

Similarity. Belongs to the ODF2 family.

Isoforms (10)

UniProt ID	Names	Canonical?
Q5BJF6-1	1	yes
Q5BJF6-2	2
Q5BJF6-3	3, Cenexin 1
Q5BJF6-4	4, Cenexin 1 variant 1
Q5BJF6-5	5, Cenexin 1, ODF2/1
Q5BJF6-6	6, Isoform 3, ODF2/2
Q5BJF6-7	7
Q5BJF6-8	8
Q5BJF6-9	9
Q5BJF6-10	10

RefSeq proteins (23): NP_001229281, NP_001229282, NP_001229283, NP_001338506, NP_001338507, NP_001338508, NP_001338509, NP_001338510, NP_001338511, NP_001338512, NP_001338513, NP_001338514, NP_001338515, NP_001338516, NP_001338517, NP_002531, NP_702910, NP_702911, NP_702913, NP_702914, NP_702915, NP_702917, NP_702918 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026099	ODF2/BCAP	Family

UniProt features (32 total): modified residue 13, splice variant 9, coiled-coil region 3, region of interest 2, sequence conflict 2, chain 1, cross-link 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BJF6-F1	78.64	0.41

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 (14): 106, 109, 110, 115, 129, 139, 231, 261, 632, 138, 73, 74, 92, 95

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-8854518	AURKA Activation by TPX2

MSigDB gene sets: 172 (showing top): RNGTGGGC_UNKNOWN, CMYB_01, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GOBP_MALE_GAMETE_GENERATION, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, YY1_02, PID_PLK1_PATHWAY, WCTCNATGGY_UNKNOWN

GO Biological Process (6): spermatogenesis (GO:0007283), intracellular protein localization (GO:0008104), centriole-centriole cohesion (GO:0010457), cell differentiation (GO:0030154), cilium organization (GO:0044782), regulation of cilium assembly (GO:1902017)

GO Molecular Function (3): structural molecule activity (GO:0005198), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (18): spindle pole (GO:0000922), nucleus (GO:0005634), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), microtubule (GO:0005874), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), centriolar subdistal appendage (GO:0120103), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), motile cilium (GO:0031514), cell projection (GO:0042995), ciliary transition fiber (GO:0097539)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
G2/M Transition	2
Centrosome maturation	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cilium	4
microtubule organizing center	3
intracellular membraneless organelle	2
sperm flagellum	2
intracellular protein-containing complex	2
developmental process involved in reproduction	1
male gamete generation	1
macromolecule localization	1
centrosome cycle	1
cell cycle process	1
cellular developmental process	1
organelle organization	1
plasma membrane bounded cell projection organization	1
cilium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
molecular_function	1
GTPase binding	1
binding	1
spindle	1
intracellular membrane-bounded organelle	1
centriole	1
cytoplasm	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
9+2 motile cilium	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ODF2	CNTRL	Q7Z7A1	930
ODF2	ODF1	Q14990	900
ODF2	NIN	Q8N4C6	879
ODF2	EVI5	O60447	793
ODF2	CEP83	Q9Y592	766
ODF2	TUBE1	Q9UJT0	732
ODF2	CEP128	Q6ZU80	719
ODF2	RAB3IP	Q96QF0	703
ODF2	MNS1	Q8NEH6	697
ODF2	CBY1	Q9Y3M2	678
ODF2	CEP164	Q9UPV0	673
ODF2	RAB8A	P24407	657
ODF2	PCNT	O95613	633
ODF2	CC2D2A	Q9P2K1	632
ODF2	RAB11A	P24410	604
ODF2	CEP170	Q5SW79	604

IntAct

39 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
ODAD1	HGS	psi-mi:“MI:0914”(association)	0.850
NRP1	CSNK2A2	psi-mi:“MI:0914”(association)	0.790
CCDC120	ODF2	psi-mi:“MI:0403”(colocalization)	0.600
CCDC120	ODF2	psi-mi:“MI:0915”(physical association)	0.600
LTBR	ZNF724	psi-mi:“MI:0914”(association)	0.530
ODF2	NUFIP2	psi-mi:“MI:0915”(physical association)	0.500
ODF2	PLK1	psi-mi:“MI:0914”(association)	0.480
LRRK1	ODF2	psi-mi:“MI:0407”(direct interaction)	0.440
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ODF2	PRPF6	psi-mi:“MI:0914”(association)	0.350
ODF2	ELAPOR2	psi-mi:“MI:0914”(association)	0.350
CDK5RAP2	SPTBN2	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
ODF2	EIF3F	psi-mi:“MI:0914”(association)	0.350
POC5	PDHX	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SYT5	psi-mi:“MI:0914”(association)	0.350
CEACAM16	SBNO1	psi-mi:“MI:0914”(association)	0.350
RAB3IL1	PPFIA3	psi-mi:“MI:0914”(association)	0.350
IKZF5	PEX14	psi-mi:“MI:0914”(association)	0.350
PLOD1	PLK4	psi-mi:“MI:0914”(association)	0.350
ODF2	DDX3X	psi-mi:“MI:2364”(proximity)	0.270
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CNTRL	ANKRD28	psi-mi:“MI:2364”(proximity)	0.270
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
ODF2	CCDC66	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (183): ODF2 (Two-hybrid), ODF2 (Reconstituted Complex), ODF2 (Two-hybrid), ODF2 (Biochemical Activity), ODF2 (Affinity Capture-MS), ODF2 (Affinity Capture-MS), ODF2 (Proximity Label-MS), ODF2 (Proximity Label-MS), ODF2 (Proximity Label-MS), ODF2 (Proximity Label-MS), ABLIM1 (Proximity Label-MS), CEP131 (Proximity Label-MS), CCDC102A (Proximity Label-MS), CCDC138 (Proximity Label-MS), CEP120 (Proximity Label-MS)

ESM2 similar proteins: A0A2R8QCI3, A0JMK8, A3KGV1, A7YH32, A9X1A5, B0KWC9, B6MFW3, B8JK76, G5E861, G9G127, O35550, O35551, P59242, P85120, Q15276, Q3V6T2, Q502I3, Q5BJF6, Q5RG45, Q5SNZ0, Q5TZ80, Q5ZJ27, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6DIX6, Q6NRB0, Q6P402, Q6P5D4, Q6PGZ0, Q6VGS5, Q6ZU80, Q7TMK6, Q80UF4, Q80YF0, Q80YT7, Q86SQ7, Q8BIL5, Q8CJ99

Diamond homologs: A3KGV1, Q2MJU7, Q2T9U2, Q4R8C3, Q5BJF6, Q5PQ23, Q5R829, Q5ZKK5, Q6AYX5, Q08B20, Q0VBY1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CDK1	“up-regulates activity”	ODF2	phosphorylation
MARK4	“up-regulates activity”	ODF2	phosphorylation
SMURF1	unknown	ODF2	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 49 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Loss of Nlp from mitotic centrosomes	7	32.7×	1e-07
Loss of proteins required for interphase microtubule organization from the centrosome	7	32.7×	1e-07
AURKA Activation by TPX2	7	31.4×	1e-07
Recruitment of mitotic centrosome proteins and complexes	7	28.0×	2e-07
Regulation of PLK1 Activity at G2/M Transition	7	26.1×	3e-07
Recruitment of NuMA to mitotic centrosomes	7	24.0×	4e-07
Anchoring of the basal body to the plasma membrane	7	23.3×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	6	9.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	73
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4682143	NM_001351578.2(ODF2):c.788G>A (p.Arg263Lys)	Likely pathogenic

SpliceAI

2954 predictions. Top by Δscore:

Variant	Effect	Δscore
9:128459558:T:TA	acceptor_gain	1.0000
9:128459559:G:A	acceptor_gain	1.0000
9:128459561:GTGCA:G	acceptor_loss	1.0000
9:128459563:GCA:G	acceptor_loss	1.0000
9:128459564:CA:C	acceptor_loss	1.0000
9:128460541:A:AG	acceptor_gain	1.0000
9:128460541:ACCT:A	acceptor_gain	1.0000
9:128460544:T:A	acceptor_gain	1.0000
9:128460936:CCACA:C	acceptor_loss	1.0000
9:128460937:CACAG:C	acceptor_loss	1.0000
9:128460938:ACAGA:A	acceptor_loss	1.0000
9:128460939:CA:C	acceptor_loss	1.0000
9:128460940:A:AC	acceptor_loss	1.0000
9:128460940:A:AG	acceptor_gain	1.0000
9:128460941:G:GA	acceptor_loss	1.0000
9:128460941:G:GG	acceptor_gain	1.0000
9:128460941:GAA:G	acceptor_gain	1.0000
9:128469177:C:G	acceptor_gain	1.0000
9:128471449:G:GT	donor_gain	1.0000
9:128471469:G:GG	donor_gain	1.0000
9:128472904:T:TA	acceptor_gain	1.0000
9:128472911:A:AG	acceptor_gain	1.0000
9:128472912:G:GA	acceptor_gain	1.0000
9:128473030:G:GT	donor_gain	1.0000
9:128473030:G:T	donor_gain	1.0000
9:128473043:G:GG	donor_gain	1.0000
9:128473605:TCCAG:T	acceptor_loss	1.0000
9:128473608:A:AC	acceptor_loss	1.0000
9:128473608:A:AG	acceptor_gain	1.0000
9:128473609:G:GC	acceptor_gain	1.0000

AlphaMissense

6013 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:128472963:T:C	L211P	1.000
9:128472971:G:C	A214P	1.000
9:128473665:T:C	L256P	1.000
9:128473677:T:C	L260P	1.000
9:128500101:T:C	L779P	1.000
9:128500113:T:C	L783P	1.000
9:128500155:T:A	V797D	1.000
9:128500160:T:C	F799L	1.000
9:128500161:T:C	F799S	1.000
9:128500162:C:A	F799L	1.000
9:128500162:C:G	F799L	1.000
9:128500164:T:A	L800H	1.000
9:128500164:T:C	L800P	1.000
9:128472983:G:T	G218W	0.999
9:128472992:G:C	A221P	0.999
9:128472993:C:A	A221D	0.999
9:128473014:T:C	L228S	0.999
9:128473644:T:C	L249P	0.999
9:128473685:T:C	F263L	0.999
9:128473687:T:A	F263L	0.999
9:128473687:T:G	F263L	0.999
9:128473707:T:C	L270P	0.999
9:128473716:T:C	L273P	0.999
9:128473719:T:C	L274P	0.999
9:128484008:T:C	L353P	0.999
9:128484833:G:C	A413P	0.999
9:128492722:G:C	A557P	0.999
9:128494565:T:C	L603P	0.999
9:128494658:T:C	L634P	0.999
9:128499077:T:C	L751P	0.999

dbSNP variants (sampled 300 via entrez): RS1000174987 (9:128473095 A>G), RS1000210082 (9:128484480 T>C), RS1000329992 (9:128479827 C>G), RS1000430335 (9:128486754 C>T), RS1000468159 (9:128467174 A>C), RS1000490666 (9:128483529 G>A), RS1000542535 (9:128483213 G>A), RS1000543003 (9:128478212 G>T), RS1000589222 (9:128493427 G>A), RS1000733138 (9:128500610 T>C), RS1000739125 (9:128490076 G>A), RS1000742962 (9:128500343 T>C), RS1000803855 (9:128491636 C>G), RS1000805032 (9:128496546 T>G), RS1000866506 (9:128461674 C>A,T)

Disease associations

OMIM: gene MIM:602015 | 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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Acetaminophen	increases expression	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Ozone	increases abundance, affects cotreatment, decreases expression, increases oxidation	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	affects expression, increases methylation	2
Cyclosporine	increases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
metolachlor	affects methylation, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases oxidation	1
Arsenic	increases abundance, increases expression	1

Clinical trials (associated diseases)

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