C14orf132

Summary

C14orf132 (chromosome 14 open reading frame 132, HGNC:20346) is a protein-coding gene on chromosome 14q32.2, encoding Uncharacterized protein C14orf132 (Q9NPU4).

Predicted to be located in membrane.

Source: NCBI Gene 56967 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_001252507

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20346
Approved symbol	C14orf132
Name	chromosome 14 open reading frame 132
Location	14q32.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000227051
Ensembl biotype	protein_coding
Entrez	56967

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000553764, ENST00000553782, ENST00000555004, ENST00000556728

RefSeq mRNA: 4 — MANE Select: NM_001252507 NM_001252507, NM_001282463, NM_001282464, NM_001289139

CCDS: CCDS81847, CCDS81848, CCDS81849

Canonical transcript exons

ENST00000555004 — 2 exons

Exon	Start	End
ENSE00002465549	96086511	96093971
ENSE00002526538	96039362	96039527

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.9310 / max 272.3342, expressed in 1512 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141327	21.8884	1334
141328	0.8527	499
141326	0.1898	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	99.48	gold quality
endothelial cell	CL:0000115	99.38	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.88	gold quality
entorhinal cortex	UBERON:0002728	98.40	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	98.06	gold quality
inferior olivary complex	UBERON:0002127	97.91	gold quality
paraflocculus	UBERON:0005351	97.79	gold quality
CA1 field of hippocampus	UBERON:0003881	97.54	gold quality
postcentral gyrus	UBERON:0002581	97.47	gold quality
superior frontal gyrus	UBERON:0002661	97.20	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.14	gold quality
parietal lobe	UBERON:0001872	97.13	gold quality
ganglionic eminence	UBERON:0004023	96.81	gold quality
cerebellum	UBERON:0002037	96.67	gold quality
cerebellar cortex	UBERON:0002129	96.42	gold quality
cerebellar hemisphere	UBERON:0002245	96.39	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.30	gold quality
orbitofrontal cortex	UBERON:0004167	96.24	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.21	gold quality
frontal pole	UBERON:0002795	96.11	gold quality
cerebellar vermis	UBERON:0004720	96.11	gold quality
temporal lobe	UBERON:0001871	96.04	gold quality
primary visual cortex	UBERON:0002436	96.00	gold quality
Ammon’s horn	UBERON:0001954	95.81	gold quality
occipital lobe	UBERON:0002021	95.81	gold quality
medulla oblongata	UBERON:0001896	95.17	gold quality
cerebral cortex	UBERON:0000956	94.99	gold quality
periodontal ligament	UBERON:0008266	94.80	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.79	gold quality
amygdala	UBERON:0001876	94.58	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	19.32
E-MTAB-5061	yes	15.88
E-GEOD-83139	yes	8.58
E-MTAB-2983	no	576.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

223 targeting C14orf132, 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-4283	100.00	66.42	2097
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C17H14orf132	ENSDARG00000108781
mus_musculus	D430019H16Rik	ENSMUSG00000094910
rattus_norvegicus	D430019H16Rik	ENSRNOG00000089537

Protein

Protein identifiers

Uncharacterized protein C14orf132 — Q9NPU4 (reviewed: Q9NPU4)

All UniProt accessions (3): A0A1B0GU51, A0A1B0GWH2, Q9NPU4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (4): NP_001239436, NP_001269392, NP_001269393, NP_001276068 (=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NPU4-F1	66.98	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GNF2_RTN1, BENPORATH_ES_WITH_H3K27ME3, XU_GH1_AUTOCRINE_TARGETS_UP, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, MODULE_205, HNF4_DR1_Q3, MODULE_99, ONDER_CDH1_TARGETS_2_UP, PPAR_DR1_Q2, RFX1_02, CDPCR3HD_01, VECCHI_GASTRIC_CANCER_EARLY_DN, GRADE_COLON_AND_RECTAL_CANCER_DN, chr14q32

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

72 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C14orf132	GARIN5B	Q8N5Q1	506
C14orf132	ZBED8L	Q8TCP9	446
C14orf132	BOD1L2	Q8IYS8	434
C14orf132	SMCO2	A6NFE2	417
C14orf132	ZBED11	P0CF97	417
C14orf132	C1orf210	Q8IVY1	400
C14orf132	LMF1	Q96S06	398
C14orf132	F5GXT2	F5GXT2	395
C14orf132	CCT8L2	Q96SF2	391
C14orf132	ZCCHC18	P0CG32	376
C14orf132	FAM120AOS	Q5T036	370
C14orf132	TTLL2	Q9BWV7	305
C14orf132	NEMP1	O14524	301
C14orf132	ZCCHC12	Q6PEW1	236
C14orf132	BTG2	P78543	224

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GW64, A2AFR3, A4IFL2, A6QLZ5, A8MVS5, A8MWV9, E1BBQ2, E9Q2Z6, O54693, O73612, P01134, P0C8R9, P18519, P48030, P52795, P52796, P98172, Q0VAQ4, Q0VBP7, Q14CM0, Q15223, Q3MHZ5, Q4FZH1, Q4R566, Q5JRV8, Q5R8M2, Q5RB29, Q5T1S8, Q5T292, Q5VX71, Q6AYP5, Q7TPF1, Q8BHW5, Q8BR63, Q8CA71, Q8IVY1, Q8R5M8, Q91WM6, Q91XV6, Q96DD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

546 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:96086667:T:A	W62R	0.999
14:96086667:T:C	W62R	0.999
14:96086674:C:A	A64D	0.999
14:96086683:C:A	A67D	0.999
14:96086691:G:A	G70R	0.999
14:96086691:G:C	G70R	0.999
14:96086692:G:A	G70E	0.999
14:96086696:C:A	N71K	0.999
14:96086696:C:G	N71K	0.999
14:96086709:G:C	G76R	0.999
14:96086710:G:A	G76D	0.999
14:96086686:C:A	T68K	0.998
14:96086686:C:G	T68R	0.998
14:96086682:G:C	A67P	0.997
14:96086722:C:A	A80D	0.997
14:96086665:T:C	L61P	0.996
14:96086691:G:T	G70W	0.996
14:96086698:T:A	I72N	0.996
14:96086701:T:A	V73E	0.996
14:96086704:T:A	V74E	0.996
14:96086665:T:A	L61Q	0.995
14:96086677:T:A	I65N	0.995
14:96086671:T:A	I63N	0.994
14:96086673:G:C	A64P	0.993
14:96086680:T:A	I66K	0.993
14:96086689:T:G	L69R	0.993
14:96086689:T:C	L69P	0.992
14:96086716:T:A	V78E	0.992
14:96086730:T:C	F83L	0.992
14:96086732:C:A	F83L	0.992

dbSNP variants (sampled 300 via entrez): RS1000000137 (14:96052362 G>A), RS1000021106 (14:96044005 G>A), RS1000129585 (14:96046349 G>A), RS1000177444 (14:96083554 G>A,C), RS1000186271 (14:96077055 A>G), RS1000242850 (14:96083901 G>A), RS1000251830 (14:96093820 C>G), RS1000391669 (14:96078287 G>T), RS1000510279 (14:96039524 G>A,T), RS1000547238 (14:96066716 G>A), RS1000557241 (14:96082942 T>C), RS1000571495 (14:96072421 A>G), RS1000694228 (14:96072286 C>T), RS1000712937 (14:96067060 A>G), RS1000793214 (14:96078216 G>A)

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

4 associations (top):

Study	Trait	p-value
GCST004069_5	Cerebrospinal fluid AB1-42 levels	5.000000e-06
GCST004370_5	Deep ovarian and/or rectovaginal disease with dense adhesions	3.000000e-07
GCST005003_3	Mumps	5.000000e-12
GCST006956_17	Erectile dysfunction	7.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004670	beta-amyloid 1-42 measurement
EFO:0008404	susceptibility to mumps measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression, affects expression, decreases expression	4
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	increases expression, affects methylation	2
entinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
Raloxifene Hydrochloride	affects expression, affects cotreatment, decreases expression	2
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
aflatoxin B2	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, decreases expression, affects cotreatment	1
bisphenol S	decreases expression	1
jinfukang	increases expression	1
bisphenol AF	decreases expression	1
Bortezomib	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Carbamazepine	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	affects binding, increases expression	1
Fluorouracil	increases expression	1

Clinical trials (associated diseases)

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