C8orf48

Summary

C8orf48 (chromosome 8 open reading frame 48, HGNC:26345) is a protein-coding gene on chromosome 8p22, encoding Uncharacterized protein C8orf48 (Q96LL4).

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 30 total — 1 pathogenic
• MANE Select transcript: NM_001007090

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26345
Approved symbol	C8orf48
Name	chromosome 8 open reading frame 48
Location	8p22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25402
Ensembl gene	ENSG00000164743
Ensembl biotype	protein_coding
Entrez	157773

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000297324

RefSeq mRNA: 1 — MANE Select: NM_001007090 NM_001007090

CCDS: CCDS47809

Canonical transcript exons

ENST00000297324 — 1 exons

Exon	Start	End
ENSE00001087083	13566869	13568288

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 89.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1.9734 / max 35.7857, expressed in 974 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87496	1.9734	974

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.11	gold quality
calcaneal tendon	UBERON:0003701	76.88	gold quality
stromal cell of endometrium	CL:0002255	71.07	gold quality
left testis	UBERON:0004533	70.41	gold quality
right coronary artery	UBERON:0001625	70.00	gold quality
testis	UBERON:0000473	69.77	gold quality
left coronary artery	UBERON:0001626	69.44	gold quality
right testis	UBERON:0004534	69.13	gold quality
ventricular zone	UBERON:0003053	68.50	gold quality
thoracic aorta	UBERON:0001515	67.99	gold quality
coronary artery	UBERON:0001621	67.90	gold quality
cortical plate	UBERON:0005343	67.86	gold quality
descending thoracic aorta	UBERON:0002345	67.71	gold quality
ascending aorta	UBERON:0001496	67.70	gold quality
islet of Langerhans	UBERON:0000006	67.36	gold quality
pancreatic ductal cell	CL:0002079	66.23	silver quality
aorta	UBERON:0000947	64.82	gold quality
sperm	CL:0000019	64.51	gold quality
apex of heart	UBERON:0002098	63.46	gold quality
tendon	UBERON:0000043	63.07	gold quality
embryo	UBERON:0000922	62.73	gold quality
ganglionic eminence	UBERON:0004023	62.73	gold quality
popliteal artery	UBERON:0002250	62.65	gold quality
tibial artery	UBERON:0007610	62.63	gold quality
right uterine tube	UBERON:0001302	62.37	gold quality
gall bladder	UBERON:0002110	62.37	gold quality
smooth muscle tissue	UBERON:0001135	62.21	gold quality
nucleus accumbens	UBERON:0001882	62.21	gold quality
left lobe of thyroid gland	UBERON:0001120	61.82	gold quality
right lobe of thyroid gland	UBERON:0001119	61.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting C8orf48, 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-1252-5P	100.00	69.80	2774
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-6731-3P	98.61	67.86	749
HSA-MIR-6838-3P	98.40	65.88	559
HSA-MIR-515-3P	97.92	67.98	506
HSA-MIR-519E-3P	97.92	68.25	508
HSA-MIR-33B-3P	97.92	67.39	529
HSA-MIR-1271-3P	97.56	64.85	865
HSA-MIR-550A-3-5P	97.56	65.35	823
HSA-MIR-550A-5P	97.56	65.35	823

Literature-anchored findings (GeneRIF, showing 1)

• C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway. (PMID:33309715)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	AI429214	ENSMUSG00000074384
rattus_norvegicus	C16h8orf48	ENSRNOG00000032376

Protein

Protein identifiers

Uncharacterized protein C8orf48 — Q96LL4 (reviewed: Q96LL4)

All UniProt accessions (1): Q96LL4

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001007091* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027932	DUF4606	Family

Pfam: PF15379

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LL4-F1	65.98	0.20

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_UP, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, YAP1_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, MIR1252_5P, MIR372_5P, MIR888_5P, MIR6828_5P, GSE15659_TREG_VS_TCONV_DN, MANNO_MIDBRAIN_NEUROTYPES_HRGL2A, ZNF816_TARGET_GENES, GSE18148_CBFB_KO_VS_WT_TREG_DN, GSE27786_LIN_NEG_VS_NKCELL_UP

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

84 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C8orf48	ZNF878	C9JN71	578
C8orf48	LONRF1	Q17RB8	538
C8orf48	ZNF14	P17017	446
C8orf48	VXN	Q8TAG6	435
C8orf48	TRMT9B	Q9P272	434
C8orf48	SGCZ	Q96LD1	372
C8orf48	IVD	P26440	323
C8orf48	CYTL1	Q9NRR1	314
C8orf48	GPR88	Q9GZN0	311
C8orf48	SAMSN1	Q9NSI8	305
C8orf48	DLC1	Q96QB1	269
C8orf48	TRIP13	Q15645	248
C8orf48	UGT8	Q16880	248
C8orf48	ZNF254	O75437	246
C8orf48	PDE3A	Q14432	228

IntAct

73 interactions, top by confidence:

A	B	Type	Score
C8orf48	MDFI	psi-mi:“MI:0915”(physical association)	0.760
MDFI	C8orf48	psi-mi:“MI:0915”(physical association)	0.760
KRT40	C8orf48	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	KRT40	psi-mi:“MI:0915”(physical association)	0.560
MCC	C8orf48	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	CARD10	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	CHAT	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	DMWD	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	DR1	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
GRIN2C	C8orf48	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	HRAS	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	HSPB1	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	NEFL	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	PRPS1	psi-mi:“MI:0915”(physical association)	0.560
TSC1	C8orf48	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	WFS1	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	GTF3C3	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	OPTN	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	RNF11	psi-mi:“MI:0915”(physical association)	0.560
C8orf48	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
TARDBP	C8orf48	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (8): C8orf48 (Two-hybrid), C8orf48 (Two-hybrid), C8orf48 (Two-hybrid), C8orf48 (Two-hybrid), C8orf48 (Two-hybrid), MCC (Two-hybrid), MDFI (Two-hybrid), KDM1A (Two-hybrid)

ESM2 similar proteins: A0A0F6B506, A3CEM4, A6ZQU2, A6ZTA1, C9K7C3, F5H982, F5H9W9, O74848, O94542, P08593, P09281, P13093, P26003, P33199, P38083, P38215, P38299, P38881, P40003, P40385, P47146, P53963, P53976, P83857, P92529, Q01021, Q04329, Q04930, Q05105, Q09862, Q10095, Q18LE3, Q18LF5, Q1HN33, Q1X700, Q1X711, Q55G18, Q69548, Q6B0Z2, Q77MR5

Diamond homologs: Q3TTJ4, Q96LL4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	19
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
395533	GRCh37/hg19 8p23.1-22(chr8:12580132-14293267)x3	Pathogenic

SpliceAI

154 predictions. Top by Δscore:

Variant	Effect	Δscore
8:13567563:C:G	donor_gain	0.7500
8:13567563:C:CG	donor_gain	0.7200
8:13567553:G:GT	donor_gain	0.7100
8:13567686:A:G	donor_gain	0.6800
8:13567562:GC:G	donor_gain	0.6700
8:13567603:G:GT	donor_gain	0.6700
8:13567604:A:T	donor_gain	0.6400
8:13567485:GTT:G	donor_gain	0.6100
8:13567559:GCAGC:G	donor_gain	0.6100
8:13567721:ATTGG:A	donor_gain	0.6000
8:13567645:G:GT	donor_gain	0.5600
8:13567657:G:GT	donor_gain	0.5600
8:13567491:CT:C	donor_gain	0.5500
8:13567556:G:GT	donor_gain	0.5400
8:13567597:TAACA:T	acceptor_loss	0.5100
8:13567599:ACAG:A	acceptor_loss	0.5100
8:13567600:CA:C	acceptor_loss	0.5100
8:13567601:A:AG	acceptor_gain	0.5100
8:13567601:A:AT	acceptor_loss	0.5100
8:13567602:G:GG	acceptor_gain	0.5100
8:13567596:GTAAC:G	acceptor_loss	0.4900
8:13567601:AG:A	acceptor_gain	0.4900
8:13567602:GG:G	acceptor_gain	0.4900
8:13567677:A:T	donor_gain	0.4900
8:13567537:G:GT	donor_gain	0.4800
8:13567238:T:G	donor_gain	0.4600
8:13567459:AG:A	donor_gain	0.4600
8:13567463:GCT:G	donor_gain	0.4600
8:13567486:T:TA	donor_gain	0.4500
8:13567439:C:G	donor_gain	0.4400

AlphaMissense

2101 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:13567631:T:C	F214L	0.977
8:13567633:T:A	F214L	0.977
8:13567633:T:G	F214L	0.977
8:13567777:G:C	W262C	0.947
8:13567777:G:T	W262C	0.947
8:13567708:C:A	D239E	0.927
8:13567708:C:G	D239E	0.927
8:13567586:T:C	C199R	0.923
8:13567610:G:C	A207P	0.917
8:13567745:C:T	P252S	0.917
8:13567746:C:A	P252H	0.909
8:13567733:C:G	H248D	0.902
8:13567785:T:C	L265P	0.901
8:13567775:T:A	W262R	0.899
8:13567775:T:C	W262R	0.899
8:13567745:C:A	P252T	0.893
8:13567730:G:C	A247P	0.892
8:13567645:G:C	K218N	0.890
8:13567645:G:T	K218N	0.890
8:13567617:T:C	L209P	0.889
8:13567369:C:G	C126W	0.888
8:13567573:C:A	H194Q	0.884
8:13567573:C:G	H194Q	0.884
8:13567606:A:C	K205N	0.884
8:13567606:A:T	K205N	0.884
8:13567706:G:C	D239H	0.884
8:13567619:G:C	A210P	0.879
8:13567586:T:A	C199S	0.872
8:13567587:G:C	C199S	0.872
8:13567661:T:C	S224P	0.871

dbSNP variants (sampled 300 via entrez): RS1000382255 (8:13565935 A>C), RS1000845574 (8:13568086 T>A,G), RS1001397310 (8:13564899 C>A), RS1002396317 (8:13567663 A>G,T), RS1003067780 (8:13565738 G>A), RS1003306976 (8:13566894 C>T), RS1003397599 (8:13568739 A>G), RS1004848779 (8:13568694 T>C,G), RS1005409255 (8:13568618 C>G), RS1005856214 (8:13565286 T>C), RS1005965850 (8:13565590 A>G), RS1005997361 (8:13565524 T>C), RS1006861671 (8:13566269 G>A,C,T), RS1006956369 (8:13566581 C>G), RS1006999880 (8:13568444 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

4 associations (top):

Study	Trait	p-value
GCST004746_18	Small cell lung carcinoma	3.000000e-06
GCST006394_16	Intraocular pressure	5.000000e-08
GCST007643_4	Gemcitabine-induced early high-grade neutropenia in pancreatic cancer	5.000000e-06
GCST009462_94	Optic disc size	4.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	6
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
ferrous chloride	decreases expression	1
avobenzone	decreases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
Temozolomide	decreases expression	1
Vorinostat	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Nickel	increases expression	1
Niclosamide	decreases expression	1
Smoke	decreases expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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