C14orf119

Summary

C14orf119 (chromosome 14 open reading frame 119, HGNC:20270) is a protein-coding gene on chromosome 14q11.2, encoding Uncharacterized protein C14orf119 (Q9NWQ9).

Located in cytosol and mitochondrion.

Source: NCBI Gene 55017 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_017924

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20270
Approved symbol	C14orf119
Name	chromosome 14 open reading frame 119
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20671
Ensembl gene	ENSG00000179933
Ensembl biotype	protein_coding
Entrez	55017

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 14 protein_coding

ENST00000319074, ENST00000554203, ENST00000897761, ENST00000897762, ENST00000897763, ENST00000897764, ENST00000897765, ENST00000897766, ENST00000940870, ENST00000940871, ENST00000940872, ENST00000940873, ENST00000940874, ENST00000940875

RefSeq mRNA: 1 — MANE Select: NM_017924 NM_017924

CCDS: CCDS9588

Canonical transcript exons

ENST00000319074 — 2 exons

Exon	Start	End
ENSE00001220101	23095505	23095619
ENSE00001220108	23097658	23100456

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 96.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.3826 / max 243.7578, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138882	56.3381	1821
138878	3.1658	1380
138877	1.7092	1104
138879	0.1695	54

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	96.39	gold quality
stromal cell of endometrium	CL:0002255	96.24	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.91	gold quality
islet of Langerhans	UBERON:0000006	95.35	gold quality
smooth muscle tissue	UBERON:0001135	95.27	gold quality
rectum	UBERON:0001052	95.18	gold quality
colonic mucosa	UBERON:0000317	95.16	gold quality
decidua	UBERON:0002450	95.11	gold quality
oocyte	CL:0000023	94.87	gold quality
mucosa of transverse colon	UBERON:0004991	94.77	gold quality
right adrenal gland cortex	UBERON:0035827	94.72	gold quality
right adrenal gland	UBERON:0001233	94.41	gold quality
left ventricle myocardium	UBERON:0006566	94.27	gold quality
left adrenal gland	UBERON:0001234	94.19	gold quality
upper arm skin	UBERON:0004263	94.16	gold quality
left adrenal gland cortex	UBERON:0035825	94.14	gold quality
adrenal cortex	UBERON:0001235	93.97	gold quality
transverse colon	UBERON:0001157	93.47	gold quality
body of stomach	UBERON:0001161	93.40	gold quality
esophagus mucosa	UBERON:0002469	93.35	gold quality
adrenal gland	UBERON:0002369	93.32	gold quality
granulocyte	CL:0000094	93.30	gold quality
kidney epithelium	UBERON:0004819	93.18	gold quality
large intestine	UBERON:0000059	93.16	gold quality
spleen	UBERON:0002106	93.12	gold quality
palpebral conjunctiva	UBERON:0001812	93.11	gold quality
colon	UBERON:0001155	93.10	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.07	gold quality
peritoneum	UBERON:0002358	93.03	gold quality
omental fat pad	UBERON:0010414	93.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting C14orf119, 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-9-5P	100.00	72.28	2361
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-1207-3P	98.99	66.22	1532

Literature-anchored findings (GeneRIF, showing 1)

• Influence of the rs6736 Polymorphism on Ischemic Stroke Susceptibility in Han Chinese Individuals via the Disruption of miR-7-1 Binding to the C14orf119 Gene. (PMID:34510374)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	C2H14orf119	ENSDARG00000054292
mus_musculus	1700123O20Rik	ENSMUSG00000040822
rattus_norvegicus	C15h14orf119	ENSRNOG00000029146
rattus_norvegicus	C16h14orf119	ENSRNOG00000062457
drosophila_melanogaster	CG12948	FBGN0037739

Protein

Protein identifiers

Uncharacterized protein C14orf119 — Q9NWQ9 (reviewed: Q9NWQ9)

All UniProt accessions (1): Q9NWQ9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Mitochondrion.

RefSeq proteins (1): NP_060394* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028019	DUF4508	Family

Pfam: PF14969

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NWQ9-F1	80.39	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 118 (showing top): DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, RACCACAR_AML_Q6, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GGGTGGRR_PAX4_03, TCF4_Q5, AML_Q6, GGCKCATGS_UNKNOWN, NKX22_01, ELK1_01, P300_01, NRF2_01, AML1_01, E2F_Q6_01

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): mitochondrion (GO:0005739), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1408 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C14orf119	PLAC9	Q5JTB6	525
C14orf119	PYROXD1	Q8WU10	520
C14orf119	SEL1L2	Q5TEA6	518
C14orf119	C5orf47	Q569G3	515
C14orf119	OR2L13	Q8N349	507
C14orf119	HEATR3	Q7Z4Q2	482
C14orf119	JAKMIP3	Q5VZ66	480
C14orf119	ICA1L	Q8NDH6	461
C14orf119	IFTAP	Q86VG3	448
C14orf119	SPSB4	Q96A44	447
C14orf119	ZNF787	Q6DD87	447
C14orf119	RFLNA	Q6ZTI6	447
C14orf119	EFCAB7	A8K855	431
C14orf119	TOM1L1	O75674	418
C14orf119	ZNF397	Q8NF99	417

IntAct

169 interactions, top by confidence:

A	B	Type	Score
ACTN1	C14orf119	psi-mi:“MI:0915”(physical association)	0.670
STN1	C14orf119	psi-mi:“MI:0915”(physical association)	0.600
C14orf119	STN1	psi-mi:“MI:0915”(physical association)	0.600
C14orf119	CCND3	psi-mi:“MI:0915”(physical association)	0.560
C14orf119	LASP1	psi-mi:“MI:0915”(physical association)	0.560
C14orf119	NRIP3	psi-mi:“MI:0915”(physical association)	0.560
C14orf119	AUNIP	psi-mi:“MI:0915”(physical association)	0.560
ACTN4	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
RAB3IL1	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
REL	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
NUP54	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
DECR2	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
NUP62	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
NIF3L1	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
MEOX1	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
UBXN11	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
DYNLL2	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
C14orf119	SNX8	psi-mi:“MI:0915”(physical association)	0.560
MYF5	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
DYNLL1	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
ARID3C	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
SMCP	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
PBX4	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
ARID5A	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
MORN3	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
CHMP1A	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	C14orf119	psi-mi:“MI:0915”(physical association)	0.560
BEND7	C14orf119	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (67): C14orf119 (Affinity Capture-MS), C14orf119 (Reconstituted Complex), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid), C14orf119 (Two-hybrid)

ESM2 similar proteins: A0A0R4IKU3, A1L188, A2AMZ4, A9ULB4, C5IJB0, I3L5V6, O95295, P21976, P56277, P56873, P60192, Q0VBY0, Q17QX2, Q1DJH5, Q28H71, Q2YD98, Q3SZW4, Q3U595, Q49AH0, Q5PPF5, Q5RDJ0, Q5RGJ6, Q5ZJ43, Q6DD38, Q6INR6, Q7S4Y4, Q8BGD8, Q8BT51, Q8LGE7, Q8N5A5, Q8VDM1, Q924T7, Q96BP2, Q96EP0, Q99PL6, Q9BSY4, Q9CQA6, Q9CQP3, Q9ESJ4, Q9JJ93

Diamond homologs: Q9JJ93, Q9NWQ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

640 predictions. Top by Δscore:

Variant	Effect	Δscore
14:23094973:ACC:A	donor_gain	0.9900
14:23094974:CCC:C	donor_gain	0.9900
14:23094989:TG:T	donor_gain	0.9900
14:23095453:A:G	donor_gain	0.9900
14:23095949:GA:G	donor_gain	0.9900
14:23095951:G:GG	donor_gain	0.9900
14:23094831:C:CT	donor_gain	0.9800
14:23095947:GAGA:G	donor_gain	0.9800
14:23097656:AG:A	acceptor_gain	0.9800
14:23097657:GG:G	acceptor_gain	0.9800
14:23097759:T:G	acceptor_gain	0.9800
14:23094735:T:TA	donor_gain	0.9700
14:23094832:C:CT	donor_gain	0.9700
14:23095616:G:T	donor_gain	0.9700
14:23097758:A:AG	acceptor_gain	0.9700
14:23095243:C:CA	donor_gain	0.9600
14:23095244:C:A	donor_gain	0.9600
14:23095617:G:T	donor_gain	0.9600
14:23095618:AGGTA:A	donor_loss	0.9600
14:23095619:GGTAA:G	donor_loss	0.9600
14:23095621:T:A	donor_loss	0.9600
14:23095630:TAG:T	donor_gain	0.9600
14:23095631:AGA:A	donor_gain	0.9600
14:23095923:A:T	donor_gain	0.9600
14:23094754:C:CA	donor_gain	0.9500
14:23094758:C:CA	donor_gain	0.9500
14:23095615:GGGAG:G	donor_gain	0.9500
14:23095616:GGAGG:G	donor_gain	0.9500
14:23097650:T:G	acceptor_loss	0.9500
14:23097651:GTTTC:G	acceptor_loss	0.9500

AlphaMissense

905 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:23097828:T:C	F57S	0.980
14:23097976:G:C	W106C	0.975
14:23097976:G:T	W106C	0.975
14:23098043:T:C	F129L	0.975
14:23098045:T:A	F129L	0.975
14:23098045:T:G	F129L	0.975
14:23097974:T:A	W106R	0.972
14:23097974:T:C	W106R	0.972
14:23097827:T:C	F57L	0.970
14:23097829:C:A	F57L	0.970
14:23097829:C:G	F57L	0.970
14:23098002:T:A	V115D	0.965
14:23097965:T:C	F103L	0.964
14:23097967:T:A	F103L	0.964
14:23097967:T:G	F103L	0.964
14:23098044:T:C	F129S	0.961
14:23097803:T:A	W49R	0.958
14:23097803:T:C	W49R	0.958
14:23097805:G:C	W49C	0.952
14:23097805:G:T	W49C	0.952
14:23097962:T:A	W102R	0.951
14:23097962:T:C	W102R	0.951
14:23097791:T:A	W45R	0.944
14:23097791:T:C	W45R	0.944
14:23097953:T:A	W99R	0.944
14:23097953:T:C	W99R	0.944
14:23097794:T:C	F46L	0.939
14:23097796:T:A	F46L	0.939
14:23097796:T:G	F46L	0.939
14:23097932:T:C	F92L	0.937

dbSNP variants (sampled 300 via entrez): RS1000883684 (14:23095723 C>G,T), RS1001705922 (14:23096230 C>G), RS1001777952 (14:23094476 G>A,C), RS1002044926 (14:23098208 G>A), RS1002110801 (14:23096605 C>T), RS1002228803 (14:23094030 A>G), RS1002255563 (14:23098415 A>G), RS1003229032 (14:23099757 T>C), RS1003260258 (14:23099609 G>A,T), RS1003332411 (14:23099394 C>G,T), RS1003496776 (14:23094097 A>C,T), RS1004137213 (14:23099548 C>T), RS1004183369 (14:23098329 G>A), RS1004235853 (14:23098535 G>A), RS1004519991 (14:23099603 A>G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dicrotophos	decreases expression	1
glycidyl methacrylate	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
resorcinol	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, affects expression	1
Cannabidiol	increases expression	1
Lead	affects expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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