C6orf141

Summary

C6orf141 (chromosome 6 open reading frame 141, HGNC:21351) is a protein-coding gene on chromosome 6p12.3, encoding Uncharacterized protein C6orf141 (Q5SZD1).

Predicted to act upstream of or within blastocyst hatching.

Source: NCBI Gene 135398 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 6 total — 1 likely-pathogenic
• MANE Select transcript: NM_001145652

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21351
Approved symbol	C6orf141
Name	chromosome 6 open reading frame 141
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC46457
Ensembl gene	ENSG00000197261
Ensembl biotype	protein_coding
Entrez	135398

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000371194, ENST00000414696, ENST00000415078, ENST00000424426, ENST00000526429, ENST00000529246, ENST00000530382

RefSeq mRNA: 1 — MANE Select: NM_001145652 NM_001145652

CCDS: CCDS55018

Canonical transcript exons

ENST00000529246 — 1 exons

Exon	Start	End
ENSE00002192416	49550668	49552095

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 94.50.

FANTOM5 (CAGE): breadth broad, TPM avg 6.3439 / max 298.4633, expressed in 641 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68187	5.6494	617
68188	0.3245	149
68189	0.1685	95
68186	0.1212	81
68190	0.0803	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gall bladder	UBERON:0002110	94.50	gold quality
putamen	UBERON:0001874	92.15	gold quality
nucleus accumbens	UBERON:0001882	92.00	gold quality
caudate nucleus	UBERON:0001873	91.09	gold quality
lower esophagus mucosa	UBERON:0035834	86.75	gold quality
ectocervix	UBERON:0012249	86.57	gold quality
oviduct epithelium	UBERON:0004804	85.43	gold quality
vagina	UBERON:0000996	85.36	gold quality
buccal mucosa cell	CL:0002336	84.71	gold quality
body of pancreas	UBERON:0001150	84.66	gold quality
minor salivary gland	UBERON:0001830	84.47	gold quality
endocervix	UBERON:0000458	84.11	gold quality
subcutaneous adipose tissue	UBERON:0002190	84.04	gold quality
skin of abdomen	UBERON:0001416	83.44	gold quality
duodenum	UBERON:0002114	83.26	gold quality
omental fat pad	UBERON:0010414	83.25	gold quality
peritoneum	UBERON:0002358	83.21	gold quality
pons	UBERON:0000988	83.20	silver quality
mucosa of transverse colon	UBERON:0004991	83.07	gold quality
esophagus mucosa	UBERON:0002469	83.05	gold quality
left uterine tube	UBERON:0001303	82.38	gold quality
adipose tissue of abdominal region	UBERON:0007808	82.08	gold quality
skin of leg	UBERON:0001511	82.06	gold quality
mouth mucosa	UBERON:0003729	81.65	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.62	gold quality
endometrium	UBERON:0001295	81.50	gold quality
uterine cervix	UBERON:0000002	81.44	gold quality
pancreas	UBERON:0001264	81.06	gold quality
fallopian tube	UBERON:0003889	80.69	gold quality
zone of skin	UBERON:0000014	80.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.49

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Low C6orf141 Expression is Significantly Associated with a Poor Prognosis in Patients with Oral Cancer. (PMID:30872783)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	9130008F23Rik	ENSMUSG00000054951
rattus_norvegicus	C9h6orf141	ENSRNOG00000048967

Protein

Protein identifiers

Uncharacterized protein C6orf141 — Q5SZD1 (reviewed: Q5SZD1)

All UniProt accessions (2): Q5SZD1, H0YDR2

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001139124* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037739	C6orf141	Family

UniProt features (8 total): region of interest 3, compositionally biased region 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SZD1-F1	51.73	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 80 (showing top): GOZGIT_ESR1_TARGETS_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, BILD_HRAS_ONCOGENIC_SIGNATURE, chr6p12, ATTACAT_MIR3803P, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_UP, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_7, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, SINGH_KRAS_DEPENDENCY_SIGNATURE, ATF6_TARGET_GENES, CBX7_TARGET_GENES, E2F2_TARGET_GENES, FOXD2_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C6orf141	MBOAT7	Q96N66	522
C6orf141	OTUD7B	Q6GQQ9	493
C6orf141	MEIS2	O14770	467
C6orf141	CRBN	Q96SW2	458
C6orf141	ZNF586	Q9NXT0	446
C6orf141	UBA1	P22314	395
C6orf141	CIROZ	Q8N9H9	394
C6orf141	USP24	Q9UPU5	375
C6orf141	IKZF3	Q9UKT9	370
C6orf141	MSRB2	Q9Y3D2	370
C6orf141	PRSS45P	Q7RTY3	370
C6orf141	HERC4	Q5GLZ8	358
C6orf141	MIMS1	Q96ND0	322
C6orf141	NBPF15	Q8N660	321
C6orf141	PCDHGC4	Q9Y5F7	305

IntAct

41 interactions, top by confidence:

A	B	Type	Score
PPL	C6orf141	psi-mi:“MI:0915”(physical association)	0.560
C6orf141		psi-mi:“MI:0915”(physical association)	0.560
C6orf141	GFAP	psi-mi:“MI:0915”(physical association)	0.560
C6orf141	NOS3	psi-mi:“MI:0915”(physical association)	0.560
C6orf141	JPH3	psi-mi:“MI:0915”(physical association)	0.560
SOD1	C6orf141	psi-mi:“MI:0915”(physical association)	0.560
SNCA	C6orf141	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	C6orf141	psi-mi:“MI:0915”(physical association)	0.560
TARDBP	C6orf141	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (146): C6orf141 (Two-hybrid), C6orf141 (Two-hybrid), MORC3 (Affinity Capture-MS), PLEC (Affinity Capture-MS), KIAA0586 (Affinity Capture-MS), PLCH1 (Affinity Capture-MS), FAM83H (Affinity Capture-MS), PRR14 (Affinity Capture-MS), CAMKK2 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), SMG7 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS), NCOR1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVZ6, A4IFR0, A6NF83, A6NI87, A6QPM6, A7XCE8, B9VXI8, F1MQW7, F5HHT4, P03294, P04610, P05905, P05907, P05908, P0C733, P16722, P17758, P20893, P24097, P25132, P70339, Q0P427, Q0VD86, Q1HVB5, Q24JP4, Q32PB4, Q497P3, Q5PR19, Q5PXH1, Q5R5R7, Q5RDQ4, Q5SZD1, Q63630, Q68FQ8, Q6UYE1, Q86SI9, Q89721, Q8AZJ3, Q8BG31, Q8C1R3

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	1
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	Likely pathogenic

SpliceAI

345 predictions. Top by Δscore:

Variant	Effect	Δscore
6:49551671:GAACT:G	donor_gain	0.9500
6:49550835:G:GT	donor_gain	0.8900
6:49550813:G:GT	donor_gain	0.8700
6:49551676:G:GG	donor_gain	0.8600
6:49551029:GGACC:G	donor_gain	0.7800
6:49551030:GACCG:G	donor_gain	0.7800
6:49550788:A:T	donor_gain	0.7600
6:49550787:G:GT	donor_gain	0.7500
6:49551034:G:GG	donor_gain	0.7400
6:49551442:C:T	donor_gain	0.7200
6:49551030:GACC:G	donor_gain	0.7100
6:49551196:AAC:A	acceptor_gain	0.7100
6:49551514:A:T	donor_gain	0.7100
6:49551782:G:GT	donor_gain	0.7100
6:49550895:G:GT	donor_gain	0.7000
6:49550778:TCA:T	donor_gain	0.6900
6:49551527:A:AG	donor_gain	0.6900
6:49550895:G:T	donor_gain	0.6800
6:49551725:GGACC:G	donor_gain	0.6800
6:49551196:A:AG	acceptor_gain	0.6700
6:49551500:G:T	donor_gain	0.6700
6:49551626:G:GT	donor_gain	0.6700
6:49551758:A:G	donor_gain	0.6700
6:49551513:G:GT	donor_gain	0.6600
6:49551659:G:T	donor_gain	0.6600
6:49551480:A:T	donor_gain	0.6500
6:49551527:A:G	donor_gain	0.6500
6:49551054:A:T	donor_gain	0.6400
6:49551085:G:GA	donor_gain	0.6400
6:49551672:AACT:A	donor_gain	0.6300

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000265101 (6:49548852 C>T), RS1000296799 (6:49560646 C>T), RS1000340886 (6:49561320 A>G), RS1000456891 (6:49561028 C>A), RS1000734932 (6:49553353 C>T), RS1000993147 (6:49551706 G>T), RS1000994436 (6:49556697 G>T), RS1001109821 (6:49550613 G>A), RS1001163816 (6:49551529 G>A), RS1001275335 (6:49557758 A>G), RS1001446170 (6:49551875 C>A,G), RS1001726503 (6:49558070 T>G), RS1002126835 (6:49552109 G>A), RS1002462290 (6:49550970 G>A), RS1002669698 (6:49556675 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, affects cotreatment	7
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	increases expression, decreases methylation	3
sodium arsenite	decreases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
urushiol	increases expression	1
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
beta-lapachone	increases expression	1
mercuric bromide	decreases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
ormosil	affects binding, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Decitabine	affects expression	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Amiodarone	increases expression	1
Cannabidiol	increases expression	1
Endosulfan	increases expression	1
Estradiol	increases expression	1

Clinical trials (associated diseases)

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