C8orf74

Summary

C8orf74 (chromosome 8 open reading frame 74, HGNC:32296) is a protein-coding gene on chromosome 8p23.1, encoding Uncharacterized protein C8orf74 (Q6P047).

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 27 total — 9 pathogenic
• MANE Select transcript: NM_001040032

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32296
Approved symbol	C8orf74
Name	chromosome 8 open reading frame 74
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171060
Ensembl biotype	protein_coding
Entrez	203076

Gene structure

Transcript identifiers

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

ENST00000304519, ENST00000517414, ENST00000519925, ENST00000521818, ENST00000523289, ENST00000523723, ENST00000524025

RefSeq mRNA: 1 — MANE Select: NM_001040032 NM_001040032

CCDS: CCDS47800

Canonical transcript exons

ENST00000304519 — 4 exons

Exon	Start	End
ENSE00001166869	10700235	10700590
ENSE00001304284	10672628	10672713
ENSE00003540714	10697599	10698005
ENSE00003639279	10674646	10674838

Expression profiles

Bgee: expression breadth broad, 59 present calls, max score 81.31.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0463 / max 36.9890, expressed in 4 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87370	0.0295	4
87369	0.0135	3
87371	0.0033	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	81.31	gold quality
right testis	UBERON:0004534	81.10	gold quality
testis	UBERON:0000473	80.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.27	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.49	gold quality
adenohypophysis	UBERON:0002196	65.27	gold quality
pituitary gland	UBERON:0000007	63.55	gold quality
skin of leg	UBERON:0001511	61.65	gold quality
zone of skin	UBERON:0000014	60.79	gold quality
skin of abdomen	UBERON:0001416	59.35	gold quality
sural nerve	UBERON:0015488	58.39	silver quality
esophagus mucosa	UBERON:0002469	56.02	gold quality
lower esophagus mucosa	UBERON:0035834	55.43	gold quality
vagina	UBERON:0000996	50.64	gold quality
endometrium	UBERON:0001295	50.58	gold quality
left adrenal gland cortex	UBERON:0035825	48.82	gold quality
tonsil	UBERON:0002372	43.98	gold quality
left adrenal gland	UBERON:0001234	43.67	gold quality
right adrenal gland	UBERON:0001233	43.41	gold quality
adrenal gland	UBERON:0002369	42.89	gold quality
bone marrow cell	CL:0002092	42.88	gold quality
right adrenal gland cortex	UBERON:0035827	42.28	gold quality
esophagus	UBERON:0001043	42.27	gold quality
gall bladder	UBERON:0002110	41.58	gold quality
urinary bladder	UBERON:0001255	41.47	gold quality
colonic epithelium	UBERON:0000397	41.39	gold quality
ectocervix	UBERON:0012249	40.60	gold quality
monocyte	CL:0000576	40.46	silver quality
uterine cervix	UBERON:0000002	40.46	gold quality
leukocyte	CL:0000738	39.79	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting C8orf74, 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-6748-5P	100.00	65.81	1057
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-6895-3P	98.79	65.69	996
HSA-MIR-34B-3P	98.70	67.40	1171

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930578I06Rik	ENSMUSG00000021961
rattus_norvegicus	C15h8orf74	ENSRNOG00000012402

Paralogs (1): CFAP119 (ENSG00000196118)

Protein

Protein identifiers

Uncharacterized protein C8orf74 — Q6P047 (reviewed: Q6P047)

All UniProt accessions (3): E5RJ53, Q6P047, H0YBH0

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001035121* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032727	CLAMP	Family

Pfam: PF14769

UniProt features (5 total): sequence variant 2, 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-Q6P047-F1	85.71	0.65

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_129_MOUSE_DN, HES2_TARGET_GENES, ZNF184_TARGET_GENES, GSE15324_ELF4_KO_VS_WT_ACTIVATED_CD8_TCELL_UP, BRCA2_TARGET_GENES, ZSCAN4_TARGET_GENES, NOTCH3_TARGET_GENES, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_1H_ACT_CD4_TCELL_UP, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_4H_ACT_CD4_TCELL_UP, GSE27786_BCELL_VS_CD4_TCELL_DN, WP_8P231_COPY_NUMBER_VARIATION_SYNDROME, PULVER_FOREY_CELLCYCLE_PEAKING_S2, GSE2585_CD80_HIGH_VS_LOW_AIRE_KO_MTEC_DN, GSE3039_CD4_TCELL_VS_B1_BCELL_DN

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

168 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C8orf74	NKX2-4	Q9H2Z4	543
C8orf74	SATL1	Q86VE3	479
C8orf74	KIZ	Q2M2Z5	472
C8orf74	XKR6	Q5GH73	417
C8orf74	C1orf141	Q5JVX7	410
C8orf74	KCNN2	Q9H2S1	398
C8orf74	PRSS55	Q6UWB4	394
C8orf74	SOX7	Q9BT81	348
C8orf74	MSRA	Q9UJ68	348
C8orf74	MFHAS1	Q9Y4C4	322
C8orf74	PPP1R3B	Q86XI6	322
C8orf74	A0A0G2JN59	A0A0G2JN59	305
C8orf74	XRN2	Q9H0D6	305
C8orf74	ANO4	Q32M45	295
C8orf74	MTMR9	Q96QG7	291

IntAct

16 interactions, top by confidence:

A	B	Type	Score
C8orf74	ZNF655	psi-mi:“MI:0915”(physical association)	0.560
C8orf74	FGFR2	psi-mi:“MI:0914”(association)	0.530
C8orf74	SUV39H1	psi-mi:“MI:0915”(physical association)	0.510
KDM1A	C8orf74	psi-mi:“MI:0915”(physical association)	0.510
C8orf74	PRMT6	psi-mi:“MI:0915”(physical association)	0.510
C8orf74	KDM1A	psi-mi:“MI:0915”(physical association)	0.510
PRMT6	C8orf74	psi-mi:“MI:0915”(physical association)	0.510
SUV39H1	C8orf74	psi-mi:“MI:0915”(physical association)	0.510
C8orf74	SUV39H2	psi-mi:“MI:0915”(physical association)	0.370
TRIM63	C8orf74	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	C8orf74	psi-mi:“MI:0915”(physical association)	0.000
TRIM54	C8orf74	psi-mi:“MI:0915”(physical association)	0.000
C8orf74	ZNF655	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): FGFR2 (Affinity Capture-MS), MORN2 (Affinity Capture-MS), TMEM259 (Affinity Capture-MS), FGFR2 (Affinity Capture-MS), MORN2 (Affinity Capture-MS), C8orf74 (Positive Genetic), ZNF655 (Two-hybrid), C8orf74 (Two-hybrid), C8orf74 (Two-hybrid), C8orf74 (Two-hybrid), FGFR2 (Affinity Capture-MS), MORN2 (Affinity Capture-MS), KDM1A (Affinity Capture-Luminescence), PRMT6 (Affinity Capture-Luminescence), SUV39H1 (Affinity Capture-Luminescence)

ESM2 similar proteins: A0A1L8GUX5, A0A571BF63, A0A8M9QN10, A1L1K1, A2ARM1, A2AVJ5, A7YDW0, O08576, O60268, P0C6P5, P97433, Q08E29, Q0V9V7, Q0VDN7, Q17QK1, Q2NKQ1, Q2NL11, Q3B7K9, Q3SYZ9, Q4R7B9, Q561Q8, Q59EK9, Q5E9L4, Q5E9R0, Q5EB20, Q5NVC2, Q5PQS0, Q5R565, Q5U3W3, Q5XHG1, Q61194, Q6AYK4, Q6MZQ0, Q6NXJ0, Q6P047, Q6P7D5, Q6ZUJ8, Q80ZQ3, Q8BPQ7, Q8N1W1

Diamond homologs: Q2NL11, Q6P047, Q80ZQ3, A1A4V9, B0BMZ6, Q6NZQ0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	0
Uncertain significance	11
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	Pathogenic
152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	Pathogenic
152960	GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1	Pathogenic
153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	Pathogenic
1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	Pathogenic
2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	Pathogenic
4526777	NC_000008.11:g.10540410_10703730del	Pathogenic
688534	GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	Pathogenic
815086	GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	Pathogenic

SpliceAI

711 predictions. Top by Δscore:

Variant	Effect	Δscore
8:10674800:TGGTC:T	donor_gain	1.0000
8:10698003:CAGGT:C	donor_loss	1.0000
8:10698004:AGGTG:A	donor_loss	1.0000
8:10698005:GGTGA:G	donor_loss	1.0000
8:10698006:GTG:G	donor_loss	1.0000
8:10700231:CCAG:C	acceptor_loss	1.0000
8:10700234:GGA:G	acceptor_gain	1.0000
8:10672720:G:GT	donor_gain	0.9900
8:10674642:GCAGA:G	acceptor_loss	0.9900
8:10674644:A:AG	acceptor_gain	0.9900
8:10674644:A:AT	acceptor_loss	0.9900
8:10674645:G:GG	acceptor_gain	0.9900
8:10674645:GA:G	acceptor_gain	0.9900
8:10674801:G:GA	donor_gain	0.9900
8:10698001:GACAG:G	donor_gain	0.9900
8:10698006:G:GG	donor_gain	0.9900
8:10698007:T:A	donor_loss	0.9900
8:10700233:A:AG	acceptor_gain	0.9900
8:10700233:AG:A	acceptor_gain	0.9900
8:10700234:G:GC	acceptor_gain	0.9900
8:10700234:GG:G	acceptor_gain	0.9900
8:10700234:GGAGT:G	acceptor_gain	0.9900
8:10674641:TGCAG:T	acceptor_gain	0.9800
8:10674643:CAG:C	acceptor_gain	0.9800
8:10674644:AGA:A	acceptor_gain	0.9800
8:10674645:G:C	acceptor_gain	0.9800
8:10674645:GAGA:G	acceptor_gain	0.9800
8:10674645:GAGAC:G	acceptor_gain	0.9800
8:10674823:C:G	donor_gain	0.9800
8:10674834:CAAAG:C	donor_loss	0.9800

AlphaMissense

1912 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:10674748:A:C	S51R	0.984
8:10674750:C:A	S51R	0.984
8:10674750:C:G	S51R	0.984
8:10674761:C:A	A55E	0.978
8:10674757:T:C	F54L	0.972
8:10674759:T:A	F54L	0.972
8:10674759:T:G	F54L	0.972
8:10674776:T:C	F60S	0.960
8:10674821:T:C	L75P	0.960
8:10674781:T:A	W62R	0.951
8:10674781:T:C	W62R	0.951
8:10697616:G:C	A87P	0.951
8:10674775:T:C	F60L	0.940
8:10674777:C:A	F60L	0.940
8:10674777:C:G	F60L	0.940
8:10697823:G:C	G156R	0.938
8:10700335:T:C	L250P	0.936
8:10674668:T:C	L24P	0.935
8:10674809:T:C	F71S	0.931
8:10700341:T:C	L252P	0.928
8:10674760:G:C	A55P	0.916
8:10674783:G:C	W62C	0.914
8:10674783:G:T	W62C	0.914
8:10697641:T:C	L95P	0.907
8:10674655:G:C	G20R	0.904
8:10700319:T:C	F245L	0.903
8:10700321:C:A	F245L	0.903
8:10700321:C:G	F245L	0.903
8:10672702:T:C	F13L	0.897
8:10672704:C:A	F13L	0.897

dbSNP variants (sampled 300 via entrez): RS1000113972 (8:10688627 G>C), RS1000117924 (8:10677608 C>A,T), RS1000118517 (8:10683032 G>A,C,T), RS1000132404 (8:10673898 T>C), RS1000192106 (8:10677371 C>A,G), RS1000197943 (8:10672006 C>A), RS1000309186 (8:10698499 G>A,C), RS1000331365 (8:10681087 G>T), RS1000557868 (8:10671209 G>C,T), RS1000611254 (8:10691157 AAGTT>A), RS1000705456 (8:10693308 C>A,T), RS1000763843 (8:10694955 G>T), RS1000782424 (8:10694225 T>A,C,G), RS1000839927 (8:10683803 G>A,C), RS1000932802 (8:10684001 C>G,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

15 associations (top):

Study	Trait	p-value
GCST002973_3	Suicide	4.000000e-06
GCST007556_1	Autism spectrum disorder	1.000000e-08
GCST010132_11	Processed meat consumption	4.000000e-10
GCST010132_14	Processed meat consumption	2.000000e-15
GCST010132_15	Processed meat consumption	1.000000e-09
GCST010137_2	Cooked vegetable consumption	2.000000e-10
GCST010142_4	Fish- and plant-related diet	2.000000e-12
GCST010142_6	Fish- and plant-related diet	3.000000e-12
GCST010142_63	Fish- and plant-related diet	2.000000e-12
GCST010142_67	Fish- and plant-related diet	1.000000e-10
GCST010142_70	Fish- and plant-related diet	8.000000e-10
GCST010142_89	Fish- and plant-related diet	4.000000e-16
GCST010142_90	Fish- and plant-related diet	7.000000e-15
GCST010703_306	Brain morphology (MOSTest)	5.000000e-26
GCST90011898_107	Alanine aminotransferase levels	2.000000e-19

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007624	suicide
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation	2
sodium arsenite	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Copper	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
Antirheumatic Agents	decreases expression	1
p-Chloromercuribenzoic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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