C16orf95

Summary

C16orf95 (chromosome 16 open reading frame 95, HGNC:40033) is a protein-coding gene on chromosome 16q24.2, encoding Uncharacterized protein C16orf95 (Q9H693).

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 16 total — 3 likely-pathogenic
• MANE Select transcript: NM_001195124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40033
Approved symbol	C16orf95
Name	chromosome 16 open reading frame 95
Location	16q24.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000260456
Ensembl biotype	protein_coding
Entrez	100506581

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000253461, ENST00000562840, ENST00000564821, ENST00000565212, ENST00000567970, ENST00000618367, ENST00000618912, ENST00000931586

RefSeq mRNA: 3 — MANE Select: NM_001195124 NM_001195124, NM_001195125, NM_001256917

CCDS: CCDS54049, CCDS58491, CCDS73921

Canonical transcript exons

ENST00000567970 — 7 exons

Exon	Start	End
ENSE00002592210	87302814	87303075
ENSE00002592689	87311150	87311296
ENSE00002599199	87317091	87317392
ENSE00002619412	87310297	87310333
ENSE00003540770	87315772	87315823
ENSE00003564533	87314971	87315096
ENSE00003677539	87305719	87305905

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 97.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1.7322 / max 91.1192, expressed in 1124 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158458	1.4639	977
158459	0.1211	33
158457	0.0737	35
208000	0.0735	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.08	gold quality
right testis	UBERON:0004534	96.72	gold quality
testis	UBERON:0000473	91.94	gold quality
right lobe of liver	UBERON:0001114	79.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	77.44	gold quality
mucosa of transverse colon	UBERON:0004991	77.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.52	gold quality
right adrenal gland cortex	UBERON:0035827	76.26	gold quality
gastrocnemius	UBERON:0001388	76.16	gold quality
right adrenal gland	UBERON:0001233	75.70	gold quality
prefrontal cortex	UBERON:0000451	75.63	gold quality
muscle of leg	UBERON:0001383	75.33	gold quality
apex of heart	UBERON:0002098	75.10	gold quality
left adrenal gland	UBERON:0001234	74.15	gold quality
left adrenal gland cortex	UBERON:0035825	74.10	gold quality
stromal cell of endometrium	CL:0002255	74.07	gold quality
anterior cingulate cortex	UBERON:0009835	73.77	gold quality
right frontal lobe	UBERON:0002810	72.92	gold quality
adrenal cortex	UBERON:0001235	72.17	gold quality
adenohypophysis	UBERON:0002196	71.89	gold quality
Brodmann (1909) area 9	UBERON:0013540	71.83	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	71.66	gold quality
body of pancreas	UBERON:0001150	71.61	gold quality
lower esophagus mucosa	UBERON:0035834	71.52	gold quality
left coronary artery	UBERON:0001626	70.86	gold quality
adrenal gland	UBERON:0002369	70.75	gold quality
omental fat pad	UBERON:0010414	70.70	gold quality
peritoneum	UBERON:0002358	70.62	gold quality
hypothalamus	UBERON:0001898	70.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting C16orf95, 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-4262	100.00	73.26	3931
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-4507	99.14	65.27	515
HSA-MIR-3940-5P	99.14	65.26	493
HSA-MIR-26B-3P	98.71	67.49	1102
HSA-MIR-6784-3P	98.39	64.88	662
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-6862-3P	97.92	64.86	531
HSA-MIR-3622A-3P	97.06	66.43	1000
HSA-MIR-4474-3P	96.97	65.87	870
HSA-MIR-3622B-3P	96.82	66.36	988

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700018B08Rik	ENSMUSG00000031809
rattus_norvegicus	C19h16orf95	ENSRNOG00000050028

Protein

Protein identifiers

Uncharacterized protein C16orf95 — Q9H693 (reviewed: Q9H693)

All UniProt accessions (3): Q9H693, A0A087X224, H3BNZ7

RefSeq proteins (3): NP_001182053, NP_001182054, NP_001243846 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027919	DUF4568	Family

Pfam: PF15132

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-Q9H693-F1	50.15	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 36 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, DOANE_BREAST_CANCER_CLASSES_DN, BRUINS_UVC_RESPONSE_EARLY_LATE, ATF6_TARGET_GENES, E2F5_TARGET_GENES, FEV_TARGET_GENES, KAT2A_TARGET_GENES, LMTK3_TARGET_GENES, SETD7_TARGET_GENES, ZNF175_TARGET_GENES, ZNF350_TARGET_GENES, ZNF7_TARGET_GENES, MIR4729, MIR4719

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C16orf95	SPATA9	Q9BWV2	544
C16orf95	DEFB135	Q30KP9	506
C16orf95	ZCCHC14	Q8WYQ9	448
C16orf95	SMIM21	Q3B7S5	447
C16orf95	ZNF621	Q6ZSS3	446
C16orf95	CLHC1	Q8NHS4	446
C16orf95	PPP1R2C	O14990	435
C16orf95	NBEAL1	Q6ZS30	418
C16orf95	KLHDC4	Q8TBB5	380
C16orf95	ASB12	Q8WXK4	380
C16orf95	SLC17A9	Q9BYT1	374
C16orf95	ALS2CL	Q60I27	367
C16orf95	PTGR3	Q8N4Q0	357
C16orf95	ZSWIM4	Q9H7M6	350
C16orf95	FBXO31	Q5XUX0	325

IntAct

0 interactions, top by confidence:

BioGRID (1): C16orf95 (Affinity Capture-MS)

ESM2 similar proteins: A0A0D1DMK2, A0A1B0GUV1, A8MUN3, A9G6D9, B8DP12, L7N648, O90299, P03294, P06791, P0C5K6, P0C854, P0DMW3, P15099, P16791, P16835, P25620, P34245, P40057, P53211, P69616, P69617, P75410, Q04612, Q07649, Q08419, Q32L37, Q3BSH4, Q494R0, Q53513, Q5YCU7, Q5YCU8, Q64747, Q64902, Q6J1A5, Q6J8G1, Q6Q572, Q6REU5, Q6UXP9, Q6ZS49, Q6ZUT4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	6
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
145626	GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1	Likely pathogenic
146290	GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1	Likely pathogenic
441961	GRCh37/hg19 16q24.2(chr16:87333237-87457042)x1	Likely pathogenic

SpliceAI

1491 predictions. Top by Δscore:

Variant	Effect	Δscore
16:87303072:CTGG:C	acceptor_gain	1.0000
16:87303073:TGG:T	acceptor_gain	1.0000
16:87303076:C:CC	acceptor_gain	1.0000
16:87305714:CTCA:C	donor_loss	1.0000
16:87305715:TCACC:T	donor_loss	1.0000
16:87305716:CACCG:C	donor_loss	1.0000
16:87305717:AC:A	donor_loss	1.0000
16:87305718:C:CT	donor_loss	1.0000
16:87303074:GG:G	acceptor_gain	0.9900
16:87303074:GGCT:G	acceptor_loss	0.9900
16:87303076:C:CA	acceptor_loss	0.9900
16:87305717:A:AC	donor_gain	0.9900
16:87305718:C:CC	donor_gain	0.9900
16:87305901:GGGTG:G	acceptor_gain	0.9900
16:87305902:GGTG:G	acceptor_gain	0.9900
16:87305902:GGTGC:G	acceptor_loss	0.9900
16:87305903:GTG:G	acceptor_gain	0.9900
16:87305903:GTGCT:G	acceptor_loss	0.9900
16:87305904:TG:T	acceptor_gain	0.9900
16:87305904:TGCTA:T	acceptor_loss	0.9900
16:87305905:GCT:G	acceptor_loss	0.9900
16:87305905:GCTA:G	acceptor_loss	0.9900
16:87305906:C:A	acceptor_loss	0.9900
16:87305906:C:CC	acceptor_gain	0.9900
16:87305906:C:CG	acceptor_loss	0.9900
16:87305907:T:C	acceptor_loss	0.9900
16:87315765:T:A	donor_gain	0.9900
16:87305718:CCGA:C	donor_gain	0.9800
16:87315770:A:AC	donor_gain	0.9800
16:87315771:C:CC	donor_gain	0.9800

AlphaMissense

1544 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:87315001:C:A	W100C	0.979
16:87315001:C:G	W100C	0.979
16:87315049:G:C	F84L	0.970
16:87315049:G:T	F84L	0.970
16:87315051:A:G	F84L	0.970
16:87315003:A:G	W100R	0.967
16:87315003:A:T	W100R	0.967
16:87315008:G:T	P98H	0.933
16:87315811:A:C	F55L	0.925
16:87315811:A:T	F55L	0.925
16:87315813:A:G	F55L	0.925
16:87314983:T:A	R106S	0.924
16:87314983:T:G	R106S	0.924
16:87315009:G:T	P98T	0.924
16:87315002:C:A	W100L	0.920
16:87315009:G:A	P98S	0.915
16:87314999:A:T	V101D	0.904
16:87314996:G:T	P102H	0.890
16:87314997:G:T	P102T	0.889
16:87315006:A:G	Y99H	0.885
16:87315008:G:A	P98L	0.880
16:87315018:C:G	A95P	0.880
16:87315008:G:C	P98R	0.877
16:87315006:A:C	Y99D	0.876
16:87315002:C:G	W100S	0.874
16:87314996:G:C	P102R	0.873
16:87314984:C:G	R106T	0.872
16:87314999:A:G	V101A	0.872
16:87314997:G:A	P102S	0.867
16:87314996:G:A	P102L	0.859

dbSNP variants (sampled 300 via entrez): RS1000081212 (16:87304642 C>A,G,T), RS1000128223 (16:87316262 C>A,G,T), RS1000266363 (16:87312596 G>A,T), RS1000757766 (16:87316627 C>A,T), RS1000978205 (16:87319152 C>G,T), RS1001022069 (16:87315413 C>T), RS1001037588 (16:87317840 C>A,T), RS1001294788 (16:87304452 G>T), RS1001431491 (16:87304628 C>A,T), RS1001525043 (16:87310882 G>A,T), RS1001744304 (16:87311063 C>A,T), RS1001985080 (16:87315696 C>A,T), RS1002353303 (16:87306576 C>T), RS1002371331 (16:87319083 G>A), RS1002475980 (16:87317030 G>A,C)

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

11 associations (top):

Study	Trait	p-value
GCST003963_4	Possible neuropathic pain in post total joint replacement surgery for osteoarthritis	4.000000e-06
GCST007147_2	Lateral ventricular volume in normal aging	4.000000e-15
GCST009304_5	Degraded stimulus continuous performance test score	9.000000e-07
GCST010101_15	White matter hyperintensities	1.000000e-13
GCST010703_87	Brain morphology (MOSTest)	2.000000e-90
GCST010726_65	Periventricular white matter hyperintensities	4.000000e-11
GCST011946_29	White matter hyperintensity volume	5.000000e-16
GCST011947_5	White matter hyperintensity volume	1.000000e-17
GCST011949_46	White matter hyperintensity volume (adjusted for hypertension)	1.000000e-15
GCST011952_4	White matter hyperintensity volume x hypertension interaction (2df)	1.000000e-14
GCST012010_6	Medial thalamic nuclei volume	8.000000e-10

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005762	neuropathic pain
EFO:0008487	lateral ventricle volume measurement
EFO:0007636	attention function measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0004346	neuroimaging measurement
EFO:0006935	thalamus volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
jinfukang	increases expression, affects cotreatment	1
Cisplatin	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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