C10orf143

Summary

C10orf143 (chromosome 10 open reading frame 143, HGNC:48677) is a protein-coding gene on chromosome 10q26.3, encoding Uncharacterized protein C10orf143 (A0A1B0GUT2).

At a glance

• Clinical variants (ClinVar): 11 total — 1 pathogenic
• MANE Select transcript: NM_001355042

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:48677
Approved symbol	C10orf143
Name	chromosome 10 open reading frame 143
Location	10q26.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000237489
Ensembl biotype	protein_coding
Entrez	387723

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 3 nonsense_mediated_decay

ENST00000456581, ENST00000637128, ENST00000643056, ENST00000647406, ENST00000863476, ENST00000863477, ENST00000863478, ENST00000960052

RefSeq mRNA: 1 — MANE Select: NM_001355042 NM_001355042

CCDS: CCDS86157

Canonical transcript exons

ENST00000637128 — 4 exons

Exon	Start	End
ENSE00003793691	130063896	130064383
ENSE00003795353	130079566	130079628
ENSE00003795732	130079737	130079901
ENSE00003844710	130110704	130110830

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 83.47.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5672 / max 25.1052, expressed in 824 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112046	1.5672	824

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	83.47	gold quality
secondary oocyte	CL:0000655	81.14	gold quality
granulocyte	CL:0000094	80.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.72	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.14	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.48	gold quality
muscle of leg	UBERON:0001383	76.74	gold quality
leukocyte	CL:0000738	76.73	gold quality
gastrocnemius	UBERON:0001388	76.54	gold quality
monocyte	CL:0000576	76.35	gold quality
lower esophagus	UBERON:0013473	76.30	gold quality
lower esophagus muscularis layer	UBERON:0035833	76.29	gold quality
right adrenal gland cortex	UBERON:0035827	76.22	gold quality
right lobe of thyroid gland	UBERON:0001119	75.98	gold quality
left lobe of thyroid gland	UBERON:0001120	75.93	gold quality
right adrenal gland	UBERON:0001233	75.80	gold quality
body of uterus	UBERON:0009853	75.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.59	gold quality
ileal mucosa	UBERON:0000331	75.44	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	75.41	gold quality
right uterine tube	UBERON:0001302	75.37	gold quality
thyroid gland	UBERON:0002046	75.34	gold quality
smooth muscle tissue	UBERON:0001135	75.27	gold quality
right lobe of liver	UBERON:0001114	75.21	gold quality
islet of Langerhans	UBERON:0000006	75.00	gold quality
ectocervix	UBERON:0012249	75.00	gold quality
left uterine tube	UBERON:0001303	74.91	gold quality
popliteal artery	UBERON:0002250	74.89	gold quality
tibial artery	UBERON:0007610	74.89	gold quality
spleen	UBERON:0002106	74.65	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.76

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	9430038I01Rik	ENSMUSG00000040139
rattus_norvegicus	C1h10orf143	ENSRNOG00000050554

Protein

Protein identifiers

Uncharacterized protein C10orf143 — A0A1B0GUT2 (reviewed: A0A1B0GUT2)

All UniProt accessions (3): A0A1B0GUT2, A0A1B0GTS3, A0A2R8YF93

RefSeq proteins (1): NP_001341971* (*=MANE)

Domains & families (InterPro)

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUT2-F1	58.33	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, ARID5B_TARGET_GENES, ASH1L_TARGET_GENES, ELF2_TARGET_GENES, HMG20B_TARGET_GENES, HOXB4_TARGET_GENES, NKX2_2_TARGET_GENES, PRKDC_TARGET_GENES, TEAD2_TARGET_GENES, ZNF711_TARGET_GENES, ZSCAN31_TARGET_GENES, SETD1A_TARGET_GENES, BRCA2_TARGET_GENES, NCOA4_TARGET_GENES, ZZZ3_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

88 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C10orf143	C1orf232	A0A0U1RR37	769
C10orf143	EDDM13	A0A1B0GTR0	769
C10orf143	CCDC201	A0A1B0GTI1	713
C10orf143	SMIM31	A0A1B0GVY4	621
C10orf143	SMIM36	A0A1B0GVT2	602
C10orf143	SMIM41	A0A2R8YCJ5	598
C10orf143	SMIM38	A0A286YFK9	592
C10orf143	SCYGR7	A0A286YF01	570
C10orf143	TMDD1	P0DPE3	570
C10orf143	GLRX3	O76003	535
C10orf143	FAM240C	A0A1B0GVR7	530
C10orf143	SMIM28	A0A1B0GU29	449
C10orf143	SOX30	O94993	443
C10orf143	ETDA	Q3ZM63	431
C10orf143	ETDC	A0A1B0GVM5	431

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUT2, A0A3Q1LFG5, A1L4Q6, A2RUQ5, A8MQB3, A8MU10, B1ANY3, C0HM98, H3BQW9, J3KSC0, P0C092, P0DMU3, P0DPA3, P24026, P59020, P59021, P59052, P87743, Q06250, Q0IIN9, Q0VFX4, Q14695, Q4R3X9, Q4VX62, Q52M75, Q5SR53, Q6ZUF6, Q6ZWC4, Q71F78, Q7Z4H9, Q8JMY5, Q8JMZ5, Q8JN06, Q8N2C9, Q8N2X6, Q8N3U1, Q8N9X3, Q8NAA6, Q8NBC4, Q8NDY4

Diamond homologs: A0A1B0GUT2, Q9CX25

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
58827	GRCh38/hg38 10q26.3(chr10:129763050-131379342)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

694 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:130079582:C:G	C94S	0.970
10:130079583:A:T	C94S	0.970
10:130079583:A:G	C94R	0.960
10:130079592:A:G	C91R	0.960
10:130064378:A:C	H101Q	0.953
10:130064378:A:T	H101Q	0.953
10:130079899:T:A	K24N	0.945
10:130079899:T:G	K24N	0.945
10:130079573:C:A	G97V	0.938
10:130079581:A:C	C94W	0.938
10:130079590:G:C	C91W	0.936
10:130079591:C:G	C91S	0.934
10:130079592:A:T	C91S	0.934
10:130079574:C:A	G97W	0.930
10:130079591:C:T	C91Y	0.928
10:130079582:C:T	C94Y	0.924
10:130079582:C:A	C94F	0.917
10:130079900:T:A	K24I	0.909
10:130064369:A:C	H104Q	0.904
10:130064369:A:T	H104Q	0.904
10:130079584:T:A	R93S	0.902
10:130079584:T:G	R93S	0.902
10:130064380:G:C	H101D	0.897
10:130079573:C:T	G97E	0.891
10:130079591:C:A	C91F	0.888
10:130064379:T:C	H101R	0.879
10:130079585:C:G	R93T	0.873
10:130079583:A:C	C94G	0.865
10:130079592:A:C	C91G	0.857
10:130079585:C:A	R93I	0.853

dbSNP variants (sampled 300 via entrez): RS1000022863 (10:130098416 T>C), RS1000057440 (10:130092862 A>G), RS1000088158 (10:130050740 A>C), RS1000127734 (10:130087029 A>T), RS1000208565 (10:130045088 G>C,T), RS1000212288 (10:130088077 G>A), RS1000224646 (10:130087291 C>A,T), RS1000230886 (10:130055353 T>C), RS1000240306 (10:130085280 T>C), RS1000270603 (10:130039677 C>T), RS1000283154 (10:130055761 T>A,C), RS1000336933 (10:130057139 G>A,T), RS1000388759 (10:130081052 T>C), RS1000461245 (10:130045865 T>G), RS1000477969 (10:130098056 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases methylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
fipronil	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
belinostat	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
DEET	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Valproic Acid	affects cotreatment, decreases expression	1
Propofol	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases expression, decreases expression	1

Clinical trials (associated diseases)

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