C16orf86

Summary

C16orf86 (chromosome 16 open reading frame 86, HGNC:33755) is a protein-coding gene on chromosome 16q22.1, encoding Uncharacterized protein C16orf86 (Q6ZW13).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001012984

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33755
Approved symbol	C16orf86
Name	chromosome 16 open reading frame 86
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ41802
Ensembl gene	ENSG00000159761
Ensembl biotype	protein_coding
Entrez	388284

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000403458, ENST00000445068, ENST00000459925, ENST00000602365, ENST00000602974, ENST00000602987

RefSeq mRNA: 1 — MANE Select: NM_001012984 NM_001012984

CCDS: CCDS32468

Canonical transcript exons

ENST00000403458 — 4 exons

Exon	Start	End
ENSE00001552063	67667296	67667525
ENSE00003430290	67668200	67668755
ENSE00003604923	67667878	67668098
ENSE00003676054	67666814	67667072

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 91.45.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5099 / max 45.8352, expressed in 840 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154676	1.5099	840

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	91.45	gold quality
right testis	UBERON:0004534	91.05	gold quality
pancreatic ductal cell	CL:0002079	90.12	silver quality
right hemisphere of cerebellum	UBERON:0014890	88.78	gold quality
cerebellar hemisphere	UBERON:0002245	88.11	gold quality
cerebellar cortex	UBERON:0002129	87.98	gold quality
testis	UBERON:0000473	87.91	gold quality
cerebellum	UBERON:0002037	86.76	gold quality
kidney epithelium	UBERON:0004819	82.29	gold quality
apex of heart	UBERON:0002098	80.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	78.43	gold quality
gastrocnemius	UBERON:0001388	77.97	gold quality
muscle of leg	UBERON:0001383	77.68	gold quality
tibial nerve	UBERON:0001323	77.12	gold quality
cardiac muscle of right atrium	UBERON:0003379	77.00	gold quality
left ventricle myocardium	UBERON:0006566	76.93	gold quality
granulocyte	CL:0000094	76.35	gold quality
muscle layer of sigmoid colon	UBERON:0035805	76.25	gold quality
left adrenal gland cortex	UBERON:0035825	76.05	gold quality
monocyte	CL:0000576	75.90	gold quality
metanephros cortex	UBERON:0010533	75.90	gold quality
right adrenal gland cortex	UBERON:0035827	75.90	gold quality
right adrenal gland	UBERON:0001233	75.85	gold quality
lower esophagus muscularis layer	UBERON:0035833	75.70	gold quality
spleen	UBERON:0002106	75.64	gold quality
lower esophagus	UBERON:0013473	75.64	gold quality
leukocyte	CL:0000738	75.62	gold quality
nucleus accumbens	UBERON:0001882	75.41	gold quality
left adrenal gland	UBERON:0001234	75.34	gold quality
deltoid	UBERON:0001476	75.12	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting C16orf86, 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-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-3085-5P	97.72	65.43	544
HSA-MIR-5588-3P	94.96	65.59	500

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4933405L10Rik	ENSMUSG00000013158
rattus_norvegicus	C19h16orf86	ENSRNOG00000017867

Protein

Protein identifiers

Uncharacterized protein C16orf86 — Q6ZW13 (reviewed: Q6ZW13)

All UniProt accessions (4): Q6ZW13, A0A087X1J0, F8WFD6, R4GNF0

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001013002* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031516	DUF4691	Family

Pfam: PF15762

UniProt features (8 total): compositionally biased region 6, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZW13-F1	57.23	0.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): chr16q22, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, MARTENS_TRETINOIN_RESPONSE_DN, GSE11864_UNTREATED_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP, GSE13306_RA_VS_UNTREATED_TREG_DN, GAGCTGG_MIR337, ZBED5_TARGET_GENES, GSE19825_NAIVE_VS_IL2RALOW_DAY3_EFF_CD8_TCELL_UP, GSE19825_NAIVE_VS_IL2RAHIGH_DAY3_EFF_CD8_TCELL_UP, GSE19825_NAIVE_VS_DAY3_EFF_CD8_TCELL_UP, GENES_CORRELATED_WITH_RHOA_DELETION, GSE4142_NAIVE_BCELL_VS_PLASMA_CELL_DN, GSE18893_CTRL_VS_TNF_TREATED_TREG_24H_UP, GSE21774_CD62L_POS_CD56_DIM_VS_CD62L_NEG_CD56_DIM_NK_CELL_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

148 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C16orf86	CASTOR1	Q8WTX7	519
C16orf86	TSNAXIP1	Q2TAA8	502
C16orf86	ZNF613	Q6PF04	479
C16orf86	LRRC36	Q1X8D7	478
C16orf86	RIPOR1	Q6ZS17	472
C16orf86	PSKH1	P11801	447
C16orf86	KCTD19	Q17RG1	447
C16orf86	C3orf18	Q9UK00	444
C16orf86	ZZZ3	Q8IYH5	438
C16orf86	RAB42	Q8N4Z0	431
C16orf86	SIN3B	O75182	406
C16orf86	SAP30	O75446	400
C16orf86	PHYHD1	Q5SRE7	397
C16orf86	MIER1	Q8N108	394
C16orf86	CBX2	Q14781	384

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944

Diamond homologs: D3ZAQ5, Q6ZW13, Q9D4A5, Q9GKT8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

695 predictions. Top by Δscore:

Variant	Effect	Δscore
16:67667401:G:GT	donor_gain	1.0000
16:67667404:G:GT	donor_gain	1.0000
16:67667405:A:T	donor_gain	1.0000
16:67667459:A:T	donor_gain	1.0000
16:67667526:G:GG	donor_gain	1.0000
16:67668097:GC:G	donor_gain	1.0000
16:67667010:G:GT	donor_gain	0.9900
16:67667084:G:GT	donor_gain	0.9900
16:67667404:G:T	donor_gain	0.9900
16:67667408:G:GT	donor_gain	0.9900
16:67667421:G:GT	donor_gain	0.9900
16:67667421:G:T	donor_gain	0.9900
16:67667422:G:T	donor_gain	0.9900
16:67667458:G:GT	donor_gain	0.9900
16:67667488:G:GG	donor_gain	0.9900
16:67667505:TCC:T	donor_gain	0.9900
16:67667514:A:T	donor_gain	0.9900
16:67668094:GGAGC:G	donor_gain	0.9900
16:67668095:GAGC:G	donor_gain	0.9900
16:67668095:GAGCG:G	donor_gain	0.9900
16:67667159:GC:G	donor_gain	0.9800
16:67667416:C:G	donor_gain	0.9800
16:67667521:GTCAA:G	donor_gain	0.9800
16:67667522:TC:T	donor_gain	0.9800
16:67667531:G:GT	donor_gain	0.9800
16:67667688:A:T	donor_gain	0.9800
16:67667873:CTCA:C	acceptor_loss	0.9800
16:67667874:TCA:T	acceptor_loss	0.9800
16:67667875:CAG:C	acceptor_loss	0.9800
16:67666949:G:GT	donor_gain	0.9700

AlphaMissense

2012 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:67668236:T:A	V197D	0.963
16:67668240:C:A	N198K	0.962
16:67668240:C:G	N198K	0.962
16:67668545:T:C	M300T	0.960
16:67668007:A:C	K154N	0.952
16:67668007:A:T	K154N	0.952
16:67668232:T:C	Y196H	0.951
16:67668233:A:G	Y196C	0.951
16:67668016:G:C	K157N	0.949
16:67668016:G:T	K157N	0.949
16:67668006:A:T	K154I	0.930
16:67668226:T:G	Y194D	0.924
16:67668572:T:A	V309D	0.923
16:67668020:C:A	R159S	0.922
16:67668233:A:C	Y196S	0.921
16:67668556:T:C	C304R	0.914
16:67668597:G:C	K317N	0.912
16:67668597:G:T	K317N	0.912
16:67668545:T:G	M300R	0.907
16:67668019:G:C	K158N	0.906
16:67668019:G:T	K158N	0.906
16:67668249:C:A	N201K	0.906
16:67668249:C:G	N201K	0.906
16:67668558:C:G	C304W	0.906
16:67668543:G:C	K299N	0.905
16:67668543:G:T	K299N	0.905
16:67668536:T:A	I297N	0.899
16:67668231:G:C	Q195H	0.898
16:67668231:G:T	Q195H	0.898
16:67668232:T:G	Y196D	0.898

dbSNP variants (sampled 300 via entrez): RS1002798011 (16:67665023 C>T), RS1003259727 (16:67667385 G>A,C,T), RS1003332786 (16:67668982 A>G), RS1004170418 (16:67668722 G>T), RS1004348461 (16:67669017 G>C), RS1004685099 (16:67667518 C>T), RS1004991220 (16:67667160 C>T), RS1005797462 (16:67666913 C>A,T), RS1005846163 (16:67667176 G>C), RS1006823805 (16:67666240 C>G), RS1006918588 (16:67666575 G>A,T), RS1007960134 (16:67665694 T>C), RS1009805894 (16:67664847 GC>G,GCC), RS1012005988 (16:67667000 G>A), RS1013395614 (16:67665910 C>G,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

2 associations (top):

Study	Trait	p-value
GCST002539_84	Schizophrenia	2.000000e-08
GCST006803_42	Schizophrenia	4.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
propionaldehyde	decreases expression	1
decabromobiphenyl ether	affects expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	increases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Atrazine	increases expression	1
Niclosamide	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1
S-Nitrosoglutathione	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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