C20orf141

Summary

C20orf141 (chromosome 20 open reading frame 141, HGNC:16134) is a protein-coding gene on chromosome 20p13, encoding Uncharacterized protein C20orf141 (Q9NUB4).

Predicted to be located in membrane.

Source: NCBI Gene 128653 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001256538

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16134
Approved symbol	C20orf141
Name	chromosome 20 open reading frame 141
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	dJ860F19.4
Ensembl gene	ENSG00000258713
Ensembl biotype	protein_coding
Entrez	128653

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000380589, ENST00000603872

RefSeq mRNA: 2 — MANE Select: NM_001256538 NM_001256538, NM_080739

CCDS: CCDS13034

Canonical transcript exons

ENST00000603872 — 3 exons

Exon	Start	End
ENSE00003512620	2815152	2815444
ENSE00003517104	2815538	2815830
ENSE00003539494	2814987	2815017

Expression profiles

Bgee: expression breadth broad, 63 present calls, max score 96.39.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1796 / max 147.5048, expressed in 16 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183183	0.1683	13
183184	0.0113	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.39	gold quality
right testis	UBERON:0004534	96.19	gold quality
testis	UBERON:0000473	95.61	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.10	gold quality
thymus	UBERON:0002370	71.10	silver quality
quadriceps femoris	UBERON:0001377	64.32	gold quality
placenta	UBERON:0001987	60.59	gold quality
cerebellar vermis	UBERON:0004720	58.50	gold quality
myometrium	UBERON:0001296	52.32	gold quality
smooth muscle tissue	UBERON:0001135	51.06	gold quality
body of uterus	UBERON:0009853	48.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	48.83	silver quality
endocervix	UBERON:0000458	47.03	gold quality
ectocervix	UBERON:0012249	45.12	gold quality
metanephros cortex	UBERON:0010533	44.56	gold quality
left uterine tube	UBERON:0001303	43.61	gold quality
uterine cervix	UBERON:0000002	43.40	gold quality
omental fat pad	UBERON:0010414	42.20	gold quality
adipose tissue	UBERON:0001013	41.55	gold quality
subcutaneous adipose tissue	UBERON:0002190	41.26	gold quality
muscle tissue	UBERON:0002385	39.16	gold quality
right uterine tube	UBERON:0001302	37.60	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	37.18	gold quality
thoracic mammary gland	UBERON:0005200	37.09	gold quality
endometrium	UBERON:0001295	36.55	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
skeletal muscle tissue	UBERON:0001134	36.20	silver quality
bone marrow cell	CL:0002092	36.16	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	32.41
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein C20orf141 — Q9NUB4 (reviewed: Q9NUB4)

All UniProt accessions (1): Q9NUB4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001243467, NP_542777 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040425	C20orf141-like	Family

Pfam: PF17717

UniProt features (3 total): chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NUB4-F1	62.17	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_UP, MODULE_49, FORTSCHEGGER_PHF8_TARGETS_DN, GSE13485_CTRL_VS_DAY3_YF17D_VACCINE_PBMC_UP, chr20p13, NOTCH3_TARGET_GENES, GSE22045_TREG_VS_TCONV_DN, ZNF320_TARGET_GENES, GSE2770_IL12_AND_TGFB_VS_IL4_TREATED_ACT_CD4_TCELL_6H_DN, GSE12392_WT_VS_IFNB_KO_CD8A_POS_SPLEEN_DC_DN, GSE25123_WT_VS_PPARG_KO_MACROPHAGE_IL4_AND_ROSIGLITAZONE_STIM_UP, GSE37605_C57BL6_VS_NOD_FOXP3_FUSION_GFP_TREG_UP

GO Biological Process (0):

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

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

48 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C20orf141	SLC16A12	Q6ZSM3	506
C20orf141	KRT75	O95678	435
C20orf141	ATP2B3	Q16720	412
C20orf141	ZIC2	O95409	356
C20orf141	FAM72D	Q6L9T8	349
C20orf141	PODXL	O00592	301
C20orf141	MAN2A2	P49641	253
C20orf141	DLX4	Q92988	228
C20orf141	CHGA	P10645	223
C20orf141	OTOF	Q9HC10	196
C20orf141	TRIP13	Q15645	192
C20orf141	CKAP4	Q07065	190
C20orf141	PYCR1	P32322	174
C20orf141	CCNF	P41002	164
C20orf141	REEP6	Q96HR9	0
C20orf141	ENDOD1	O94919	0

IntAct

18 interactions, top by confidence:

A	B	Type	Score
C20orf141	APOE	psi-mi:“MI:0915”(physical association)	0.560
C20orf141	JPH3	psi-mi:“MI:0915”(physical association)	0.560
HTT	C20orf141	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	C20orf141	psi-mi:“MI:0915”(physical association)	0.560
C20orf141	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.370
C20orf141	ENDOD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): C20orf141 (Two-hybrid), C20orf141 (Two-hybrid), CCDC12 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), ENDOD1 (Affinity Capture-MS), IL17F (Affinity Capture-MS), FUNDC2 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP6 (Affinity Capture-MS)

ESM2 similar proteins: A2RUT3, A6NC62, A6NHS1, A8MTW9, B2KGE5, C9JUS6, C9JVW0, F1MQW7, H3BQW9, I3L1E1, O09800, O75474, O75638, O95411, P0C678, P0C685, P0C689, P0C7X2, P19998, P20975, P20976, P20977, P57738, P70339, Q08648, Q67923, Q69027, Q69604, Q69607, Q6NUI1, Q6P050, Q6PDA7, Q6UYE1, Q6ZSJ8, Q6ZTI0, Q80IU5, Q81163, Q86SI9, Q8CHZ8, Q8K1M5

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	4
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

333 predictions. Top by Δscore:

Variant	Effect	Δscore
20:2815015:G:GT	donor_gain	0.9900
20:2815442:TAGG:T	donor_loss	0.9900
20:2815671:G:GT	donor_gain	0.9900
20:2815215:GCAC:G	donor_gain	0.9800
20:2815536:A:AG	acceptor_gain	0.9800
20:2815537:G:GG	acceptor_gain	0.9800
20:2815620:G:GT	donor_gain	0.9800
20:2815013:AGGAG:A	donor_loss	0.9700
20:2815015:GAGGT:G	donor_loss	0.9700
20:2815016:AG:A	donor_loss	0.9700
20:2815017:GG:G	donor_loss	0.9700
20:2815019:T:G	donor_loss	0.9700
20:2815247:GGGCC:G	donor_gain	0.9700
20:2815443:AGGTA:A	donor_loss	0.9700
20:2815445:G:GA	donor_loss	0.9700
20:2815445:G:GG	donor_gain	0.9700
20:2815446:T:G	donor_loss	0.9700
20:2815533:CACA:C	acceptor_loss	0.9700
20:2815535:CA:C	acceptor_loss	0.9700
20:2815537:G:GT	acceptor_loss	0.9700
20:2815014:GGAG:G	donor_gain	0.9600
20:2815018:GT:G	donor_loss	0.9600
20:2815020:GAG:G	donor_loss	0.9600
20:2815537:GGCCC:G	acceptor_gain	0.9600
20:2815219:G:GG	donor_gain	0.9500
20:2815536:AG:A	acceptor_gain	0.9500
20:2815537:GG:G	acceptor_gain	0.9500
20:2815388:T:A	acceptor_gain	0.9400
20:2815537:GGC:G	acceptor_gain	0.9400
20:2815654:G:GT	donor_gain	0.9400

AlphaMissense

1024 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:2815416:A:C	S78R	0.899
20:2815418:C:A	S78R	0.899
20:2815418:C:G	S78R	0.899
20:2815428:T:C	F82L	0.873
20:2815430:T:A	F82L	0.873
20:2815430:T:G	F82L	0.873
20:2815419:T:C	F79L	0.835
20:2815421:C:A	F79L	0.835
20:2815421:C:G	F79L	0.835
20:2815752:T:C	F159L	0.755
20:2815754:C:A	F159L	0.755
20:2815754:C:G	F159L	0.755
20:2815377:T:C	F65L	0.668
20:2815379:T:A	F65L	0.668
20:2815379:T:G	F65L	0.668
20:2815695:G:A	G140R	0.668
20:2815695:G:C	G140R	0.668
20:2815433:C:A	D83E	0.654
20:2815433:C:G	D83E	0.654
20:2815743:G:C	G156R	0.638
20:2815408:T:A	L75H	0.617
20:2815414:T:A	V77D	0.590
20:2815769:G:C	W164C	0.588
20:2815769:G:T	W164C	0.588
20:2815375:T:A	V64D	0.586
20:2815330:A:T	D49V	0.583
20:2815420:T:C	F79S	0.582
20:2815432:A:T	D83V	0.576

dbSNP variants (sampled 300 via entrez): RS1003180412 (20:2813636 T>C), RS1003233463 (20:2813958 A>C,G), RS1004826457 (20:2816131 G>A), RS1004940719 (20:2816330 G>A,C), RS1005824027 (20:2813164 T>A,C), RS1006714837 (20:2814591 C>A), RS1007238752 (20:2814900 G>A), RS1007747678 (20:2813154 T>C), RS1009058010 (20:2815635 C>T), RS1009173080 (20:2816076 A>C), RS1009703409 (20:2815744 GC>G), RS1009757229 (20:2816138 G>A,C,T), RS1009784906 (20:2815580 G>A), RS1009838103 (20:2815391 C>G), RS1010120557 (20:2814548 C>A,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
GCST001760_7	White matter integrity	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004641	white matter integrity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Rotenone	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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