OAF

Summary

OAF (out at first homolog, HGNC:28752) is a protein-coding gene on chromosome 11q23.3, encoding Out at first protein homolog (Q86UD1).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_178507

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28752
Approved symbol	OAF
Name	out at first homolog
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC52117
Ensembl gene	ENSG00000184232
Ensembl biotype	protein_coding
OMIM	621070
Entrez	220323

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000328965, ENST00000531220, ENST00000534735, ENST00000867027

RefSeq mRNA: 1 — MANE Select: NM_178507 NM_178507

CCDS: CCDS8430

Canonical transcript exons

ENST00000328965 — 4 exons

Exon	Start	End
ENSE00001303331	120228868	120230334
ENSE00001309769	120225661	120225795
ENSE00001323993	120226816	120226996
ENSE00001338412	120211032	120211510

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 98.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.9636 / max 336.3175, expressed in 1723 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117139	27.9636	1723

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.82	gold quality
kidney epithelium	UBERON:0004819	98.17	gold quality
liver	UBERON:0002107	97.33	gold quality
mucosa of transverse colon	UBERON:0004991	97.08	gold quality
ileal mucosa	UBERON:0000331	97.05	gold quality
left adrenal gland cortex	UBERON:0035825	96.31	gold quality
left adrenal gland	UBERON:0001234	96.24	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.19	gold quality
adrenal cortex	UBERON:0001235	96.07	gold quality
right adrenal gland	UBERON:0001233	96.02	gold quality
decidua	UBERON:0002450	96.00	gold quality
dorsal root ganglion	UBERON:0000044	95.93	gold quality
tibial nerve	UBERON:0001323	95.86	gold quality
calcaneal tendon	UBERON:0003701	95.68	gold quality
right adrenal gland cortex	UBERON:0035827	95.68	gold quality
stromal cell of endometrium	CL:0002255	95.67	gold quality
adrenal gland	UBERON:0002369	95.26	gold quality
endocervix	UBERON:0000458	94.84	gold quality
body of pancreas	UBERON:0001150	94.75	gold quality
apex of heart	UBERON:0002098	94.70	gold quality
trigeminal ganglion	UBERON:0001675	94.65	gold quality
cartilage tissue	UBERON:0002418	94.63	gold quality
metanephros cortex	UBERON:0010533	94.42	gold quality
right ovary	UBERON:0002118	94.37	gold quality
transverse colon	UBERON:0001157	94.35	gold quality
cardia of stomach	UBERON:0001162	94.32	gold quality
left uterine tube	UBERON:0001303	94.31	gold quality
omental fat pad	UBERON:0010414	94.00	gold quality
peritoneum	UBERON:0002358	93.97	gold quality
left ovary	UBERON:0002119	93.91	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	260.62
E-MTAB-10287	yes	104.37
E-ANND-3	yes	21.47
E-MTAB-5061	yes	18.03
E-GEOD-81547	yes	17.42
E-GEOD-83139	yes	6.77
E-MTAB-7303	no	442.06
E-MTAB-6386	no	26.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting OAF, 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-513A-5P	100.00	69.77	2465
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305

Literature-anchored findings (GeneRIF, showing 1)

• ALB, HP, OAF and RBP4 as novel protein biomarkers for identifying cured patients with pulmonary tuberculosis by DIA. (PMID:35964702)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	oafa	ENSDARG00000075851
danio_rerio	oafb	ENSDARG00000077107
mus_musculus	Oaf	ENSMUSG00000032014
rattus_norvegicus	Oaf	ENSRNOG00000009243
drosophila_melanogaster	oaf	FBGN0011818

Protein

Protein identifiers

Out at first protein homolog — Q86UD1 (reviewed: Q86UD1)

Alternative names: HCV NS5A-transactivated protein 13 target protein 2

All UniProt accessions (2): E9PJ29, Q86UD1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the OAF family.

RefSeq proteins (1): NP_848602* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026315	Oaf	Family
IPR053894	OAF_N	Domain
IPR053897	Oaf_C	Domain

Pfam: PF14941, PF22873

UniProt features (4 total): sequence variant 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UD1-F1	87.93	0.71

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 126 (showing top): BENPORATH_ES_WITH_H3K27ME3, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GTGCCTT_MIR506, WANG_IMMORTALIZED_BY_HOXA9_AND_MEIS1_DN, TCCAGAT_MIR5165P, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, ZHANG_RESPONSE_TO_IKK_INHIBITOR_AND_TNF_UP, MIKKELSEN_NPC_HCP_WITH_H3K4ME3_AND_H3K27ME3, JOHNSTONE_PARVB_TARGETS_2_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

294 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OAF	DNAJC24	Q6P3W2	448
OAF	TCN2	P20062	432
OAF	LEMD2	Q8NC56	431
OAF	MKX	Q8IYA7	389
OAF	KLHL14	Q9P2G3	363
OAF	ACAN	P16112	343
OAF	ILDR2	Q71H61	342
OAF	COL2A1	P02458	337
OAF	PAX1	P15863	324
OAF	IZUMO1	Q8IYV9	313
OAF	SMIM12	Q96EX1	313
OAF	PKDREJ	Q9NTG1	273
OAF	ATP4A	P20648	258
OAF	DAG1	Q14118	253
OAF	LRRC40	Q9H9A6	253

IntAct

80 interactions, top by confidence:

A	B	Type	Score
ARL4C	RGS12	psi-mi:“MI:0914”(association)	0.640
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
TRAC	COCH	psi-mi:“MI:0914”(association)	0.530
CCL22	PLXNA2	psi-mi:“MI:0914”(association)	0.530
SFTA2	TBCE	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
DKKL1	VWA8	psi-mi:“MI:0914”(association)	0.350
F9	DDX11L8	psi-mi:“MI:0914”(association)	0.350
EPHA7	AGAP1	psi-mi:“MI:0914”(association)	0.350
LYPD4	DPYSL4	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	NRP1	psi-mi:“MI:0914”(association)	0.350
CFB	NME2	psi-mi:“MI:0914”(association)	0.350
TM2D3	DDX39A	psi-mi:“MI:0914”(association)	0.350
CCL22	HSPA12A	psi-mi:“MI:0914”(association)	0.350
SIAE	COCH	psi-mi:“MI:0914”(association)	0.350
NAAA	NRP2	psi-mi:“MI:0914”(association)	0.350
ATP1B4	RTN2	psi-mi:“MI:0914”(association)	0.350
CEACAM21	MET	psi-mi:“MI:0914”(association)	0.350
SFTA2	SEPTIN2	psi-mi:“MI:0914”(association)	0.350
BOC	ACOX1	psi-mi:“MI:0914”(association)	0.350
ST3GAL4	MANEAL	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	FAM234B	psi-mi:“MI:0914”(association)	0.350
NAAA	POTEF	psi-mi:“MI:0914”(association)	0.350
BRICD5	POTEF	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS), OAF (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QHQ6, A0A3Q1LRJ2, A0A8M9PDM1, A6QL48, B4ER10, E9Q8Q8, O02720, O46673, O70615, P01244, P01245, P01246, P01248, P06880, P0DJF3, P19795, P33711, P37886, P46404, P46407, P48411, P56437, Q13007, Q1HFN3, Q1XG29, Q29406, Q3KNT9, Q4KM46, Q62575, Q659Q8, Q6AYE5, Q6UXV1, Q6ZMJ4, Q71SY6, Q7YQB8, Q7YQD2, Q7YRR6, Q864S7, Q86UD1, Q8HYE5

Diamond homologs: O18638, Q6AYE5, Q6GPK2, Q71SY6, Q86UD1, Q8QZR4, Q9NLA6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 110 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.

GO biological processes:

GO term	Partners	Fold	FDR
semaphorin-plexin signaling pathway	5	20.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

611 predictions. Top by Δscore:

Variant	Effect	Δscore
11:120211507:GAAG:G	donor_gain	1.0000
11:120211508:AAGG:A	donor_loss	1.0000
11:120211509:AGGT:A	donor_loss	1.0000
11:120211511:GTG:G	donor_loss	1.0000
11:120211512:T:G	donor_loss	1.0000
11:120225794:AGG:A	donor_loss	1.0000
11:120225795:GGTA:G	donor_loss	1.0000
11:120225796:G:C	donor_loss	1.0000
11:120225796:G:GG	donor_gain	1.0000
11:120225797:T:A	donor_loss	1.0000
11:120226969:G:GT	donor_gain	1.0000
11:120226972:G:GT	donor_gain	1.0000
11:120226992:GCAAG:G	donor_gain	1.0000
11:120226994:AAG:A	donor_loss	1.0000
11:120226997:G:GA	donor_loss	1.0000
11:120228864:CCAG:C	acceptor_loss	1.0000
11:120228866:A:C	acceptor_loss	1.0000
11:120228867:GGT:G	acceptor_gain	1.0000
11:120211508:A:T	donor_gain	0.9900
11:120225791:GGCAG:G	donor_gain	0.9900
11:120225792:GCAG:G	donor_gain	0.9900
11:120225792:GCAGG:G	donor_gain	0.9900
11:120226810:A:AG	acceptor_gain	0.9900
11:120226813:C:G	acceptor_gain	0.9900
11:120226814:A:AG	acceptor_gain	0.9900
11:120226815:G:GA	acceptor_gain	0.9900
11:120226815:GA:G	acceptor_gain	0.9900
11:120226815:GAAA:G	acceptor_gain	0.9900
11:120226815:GAAAA:G	acceptor_gain	0.9900
11:120226997:G:GG	donor_gain	0.9900

AlphaMissense

1772 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:120228992:G:C	W224C	0.999
11:120228992:G:T	W224C	0.999
11:120228990:T:A	W224R	0.997
11:120228990:T:C	W224R	0.997
11:120229054:T:C	I245T	0.997
11:120225734:T:G	F102C	0.996
11:120225730:T:C	C101R	0.995
11:120225732:C:G	C101W	0.995
11:120225734:T:C	F102S	0.995
11:120229059:A:C	S247R	0.995
11:120229061:C:A	S247R	0.995
11:120229061:C:G	S247R	0.995
11:120225795:G:C	Q122H	0.994
11:120225795:G:T	Q122H	0.994
11:120226933:T:A	C162S	0.994
11:120226934:G:C	C162S	0.994
11:120229047:T:A	C243S	0.994
11:120229048:G:C	C243S	0.994
11:120225730:T:A	C101S	0.993
11:120225731:G:A	C101Y	0.993
11:120225731:G:C	C101S	0.993
11:120225733:T:C	F102L	0.993
11:120225735:T:A	F102L	0.993
11:120225735:T:G	F102L	0.993
11:120226933:T:C	C162R	0.993
11:120226934:G:A	C162Y	0.993
11:120229054:T:A	I245N	0.993
11:120229054:T:G	I245S	0.993
11:120225788:T:A	L120H	0.992
11:120228997:C:A	P226H	0.992

dbSNP variants (sampled 300 via entrez): RS1000037371 (11:120224241 A>C), RS1000128362 (11:120216379 C>T), RS1000299677 (11:120221733 C>T), RS1000428950 (11:120209889 G>A), RS1000533475 (11:120215205 T>G), RS1000645974 (11:120216182 G>A), RS1000987565 (11:120215554 G>A), RS1001148467 (11:120226723 T>A,G), RS1001187187 (11:120212728 C>A,T), RS1001231507 (11:120218721 C>G), RS1001260334 (11:120229860 C>T), RS1001524827 (11:120229820 A>G), RS1001661114 (11:120213010 T>A), RS1001726060 (11:120229444 G>A), RS1001797049 (11:120223975 C>T)

Disease associations

OMIM: gene MIM:621070 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST007267_182	Systolic blood pressure	2.000000e-09
GCST008790_43	Urinary albumin-to-creatinine ratio	3.000000e-11
GCST008794_35	Urinary albumin-to-creatinine ratio	1.000000e-11
GCST009640_42	Urinary albumin-to-creatinine ratio	3.000000e-08
GCST009959_13	Retinal detachment or retinal break	1.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0007778	urinary albumin to creatinine ratio
EFO:0010698	retinal break

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	4
sodium arsenite	decreases expression, increases abundance, increases expression	3
Acetaminophen	decreases expression	2
Valproic Acid	affects cotreatment, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
beta-lapachone	increases expression	1
o,p’-DDT	increases expression	1
aflatoxin B2	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	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	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Oxygen	decreases expression	1
Phthalic Acids	increases methylation	1
Quercetin	decreases expression	1
Silicon Dioxide	decreases methylation	1

Clinical trials (associated diseases)

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