C11orf86

Summary

C11orf86 (chromosome 11 open reading frame 86, HGNC:34442) is a protein-coding gene on chromosome 11q13.2, encoding Uncharacterized protein C11orf86 (A6NJI1).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001353554

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34442
Approved symbol	C11orf86
Name	chromosome 11 open reading frame 86
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22675, FACI
Ensembl gene	ENSG00000173237
Ensembl biotype	protein_coding
Entrez	254439

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000308963, ENST00000683896

RefSeq mRNA: 2 — MANE Select: NM_001353554 NM_001136485, NM_001353554

CCDS: CCDS44656, CCDS91512

Canonical transcript exons

ENST00000683896 — 2 exons

Exon	Start	End
ENSE00003916418	66975304	66975638
ENSE00003922356	66976177	66977009

Expression profiles

Bgee: expression breadth broad, 64 present calls, max score 93.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2814 / max 101.5265, expressed in 43 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115381	0.1401	30
115382	0.1031	33
115380	0.0382	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	93.70	gold quality
mucosa of transverse colon	UBERON:0004991	91.44	gold quality
duodenum	UBERON:0002114	89.92	gold quality
pancreatic ductal cell	CL:0002079	89.48	silver quality
jejunal mucosa	UBERON:0000399	86.80	gold quality
small intestine	UBERON:0002108	82.18	gold quality
small intestine Peyer’s patch	UBERON:0003454	81.66	gold quality
upper arm skin	UBERON:0004263	80.89	gold quality
epithelial cell of pancreas	CL:0000083	80.81	gold quality
kidney epithelium	UBERON:0004819	79.75	gold quality
nasal cavity epithelium	UBERON:0005384	79.19	gold quality
tibialis anterior	UBERON:0001385	78.84	silver quality
parotid gland	UBERON:0001831	77.22	gold quality
quadriceps femoris	UBERON:0001377	75.30	gold quality
heart right ventricle	UBERON:0002080	75.30	gold quality
jejunum	UBERON:0002115	75.09	gold quality
colonic mucosa	UBERON:0000317	74.65	gold quality
vastus lateralis	UBERON:0001379	74.52	gold quality
rectum	UBERON:0001052	74.21	gold quality
deltoid	UBERON:0001476	73.45	gold quality
mucosa of sigmoid colon	UBERON:0004993	71.21	silver quality
myocardium	UBERON:0002349	70.63	gold quality
transverse colon	UBERON:0001157	70.36	gold quality
tendon of biceps brachii	UBERON:0008188	69.70	gold quality
oral cavity	UBERON:0000167	69.00	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	68.35	gold quality
biceps brachii	UBERON:0001507	68.06	gold quality
left adrenal gland cortex	UBERON:0035825	66.36	gold quality
adrenal cortex	UBERON:0001235	65.82	gold quality
right adrenal gland cortex	UBERON:0035827	65.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	66.40
E-ANND-3	yes	3.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting C11orf86, 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-6756-5P	99.82	67.97	2466
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-198	98.70	67.32	920
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-338-3P	98.14	67.38	1137
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-4693-5P	97.35	67.02	1234
HSA-MIR-1915-5P	95.25	65.78	571

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	2010003K11Rik	ENSMUSG00000042041
rattus_norvegicus	C1h11orf86	ENSRNOG00000036641

Protein

Protein identifiers

Uncharacterized protein C11orf86 — A6NJI1 (reviewed: A6NJI1)

All UniProt accessions (2): A6NJI1, A0A804HHS3

RefSeq proteins (2): NP_001129957, NP_001340483* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027990	DUF4633	Family

Pfam: PF15464

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NJI1-F1	65.90	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, chr11q13, GOZGIT_ESR1_TARGETS_UP, CHEN_METABOLIC_SYNDROM_NETWORK, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, HES2_TARGET_GENES, GSE10240_CTRL_VS_IL22_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_DN, MIR205_5P, MIR6773_3P, GSE12366_PLASMA_CELL_VS_NAIVE_BCELL_UP, GSE13306_TREG_RA_VS_TCONV_RA_DN, GSE14308_NAIVE_CD4_TCELL_VS_NATURAL_TREG_DN, GSE17721_PAM3CSK4_VS_CPG_8H_BMDC_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

88 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C11orf86	ZZEF1	O43149	522
C11orf86	TMEM9	Q9P0T7	489
C11orf86	HMSD	A8MTL9	479
C11orf86	CCDC68	Q9H2F9	465
C11orf86	BEST4	Q8NFU0	449
C11orf86	FSD1	Q9BTV5	398
C11orf86	FSIP1	Q8NA03	397
C11orf86	KRT80	Q6KB66	386
C11orf86	SLC39A10	Q9ULF5	379
C11orf86	KRT24	Q2M2I5	375
C11orf86	CMTM5	Q96DZ9	372
C11orf86	PAQR9	Q6ZVX9	371
C11orf86	GALNT13	Q8IUC8	366
C11orf86	CA7	P43166	363
C11orf86	RIC3	Q7Z5B4	359

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVZ6, A5D7I0, A6H7B4, A6NDZ8, A6NE82, A6NJ08, A6NJB7, A6NJI1, A6NL46, A6QP24, A8MUA0, A8MUI8, A8MV72, A8MX80, B2RW88, O94850, P0C6A0, P24097, P50617, Q0P5M0, Q0VD86, Q2KIL8, Q3B8N5, Q3SY00, Q3SYA9, Q3UN58, Q5BMD4, Q5JTZ5, Q5RBE4, Q5VZ46, Q66MI6, Q68US1, Q6GQV0, Q6PAC4, Q80TS7, Q80VY2, Q8BFY7, Q8BII1, Q8IXW0, Q8K2F3

Diamond homologs: A6NJI1, Q2KIL8, Q8VC23

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

223 predictions. Top by Δscore:

Variant	Effect	Δscore
11:66975464:GGCGC:G	donor_gain	0.9800
11:66975634:AACAG:A	donor_loss	0.9800
11:66975635:ACAGG:A	donor_loss	0.9800
11:66975636:CAGG:C	donor_loss	0.9800
11:66975639:G:A	donor_loss	0.9800
11:66975640:T:G	donor_loss	0.9800
11:66976175:A:AG	acceptor_gain	0.9500
11:66976176:G:GG	acceptor_gain	0.9500
11:66975416:A:T	donor_gain	0.9400
11:66976176:GCA:G	acceptor_gain	0.9400
11:66975616:G:GA	donor_gain	0.9300
11:66976171:TTCCA:T	acceptor_loss	0.9200
11:66976172:TCCA:T	acceptor_loss	0.9200
11:66976173:CCAGC:C	acceptor_loss	0.9200
11:66976174:CA:C	acceptor_loss	0.9200
11:66976175:A:AC	acceptor_loss	0.9200
11:66976176:G:T	acceptor_loss	0.9200
11:66976177:CAGGT:C	acceptor_loss	0.9200
11:66976178:A:G	acceptor_loss	0.9200
11:66976179:G:A	acceptor_loss	0.9200
11:66976167:T:A	acceptor_loss	0.8800
11:66975615:T:TA	donor_gain	0.8600
11:66976176:GC:G	acceptor_gain	0.8600
11:66976088:G:A	acceptor_gain	0.8500
11:66976175:AGCAG:A	acceptor_gain	0.8500
11:66976176:GCAGG:G	acceptor_gain	0.8500
11:66976179:GGTAA:G	acceptor_gain	0.8500
11:66976178:AG:A	acceptor_gain	0.8200
11:66976179:GG:G	acceptor_gain	0.8200
11:66976179:GGT:G	acceptor_gain	0.8100

AlphaMissense

729 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:66976194:G:C	W97C	0.943
11:66976194:G:T	W97C	0.943
11:66976192:T:A	W97R	0.905
11:66976192:T:C	W97R	0.905
11:66976201:T:C	F100L	0.863
11:66976203:T:A	F100L	0.863
11:66976203:T:G	F100L	0.863
11:66975589:T:C	I76T	0.841
11:66976202:T:C	F100S	0.830
11:66975471:A:C	S37R	0.825
11:66975473:C:A	S37R	0.825
11:66975473:C:G	S37R	0.825
11:66975381:A:C	S7R	0.824
11:66975383:T:A	S7R	0.824
11:66975383:T:G	S7R	0.824
11:66976193:G:C	W97S	0.818
11:66976205:T:A	V101D	0.807
11:66976202:T:G	F100C	0.754
11:66975589:T:G	I76S	0.737
11:66975620:G:C	W86C	0.730
11:66975620:G:T	W86C	0.730
11:66975464:G:C	R34S	0.711
11:66975464:G:T	R34S	0.711
11:66975589:T:A	I76N	0.701
11:66976193:G:T	W97L	0.690
11:66975618:T:A	W86R	0.680
11:66975618:T:C	W86R	0.680
11:66975586:T:C	L75P	0.660
11:66975630:T:G	Y90D	0.647
11:66975382:G:T	S7I	0.638

dbSNP variants (sampled 300 via entrez): RS1000205986 (11:66973902 A>C), RS1000403575 (11:66974311 A>G), RS1000689050 (11:66975470 A>G,T), RS1001035745 (11:66976712 C>T), RS1001207573 (11:66975264 G>A), RS1001474282 (11:66974352 A>G), RS1001529616 (11:66974611 C>T), RS1001829208 (11:66976976 G>A), RS1003488391 (11:66977110 G>A), RS1003709755 (11:66977430 G>T), RS1004535341 (11:66977332 G>A), RS1007123813 (11:66973317 A>G), RS1007310765 (11:66973595 C>A), RS1007769162 (11:66973668 C>T), RS1008105720 (11:66975213 C>T)

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
GCST001241_12	Bipolar disorder	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methyleugenol	decreases expression	1
lead acetate	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
cupric chloride	decreases expression	1
abrine	increases expression	1
licochalcone B	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression, affects cotreatment	1
Folic Acid	decreases expression	1
Lead	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Dronabinol	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1IS	HyCyte A-549 KO-hC11orf86	Cancer cell line	Male

Clinical trials (associated diseases)

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