C5orf34

Summary

C5orf34 (chromosome 5 open reading frame 34, HGNC:24738) is a protein-coding gene on chromosome 5p12, encoding Uncharacterized protein C5orf34 (Q96MH7).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 30 total — 1 pathogenic
• MANE Select transcript: NM_198566

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24738
Approved symbol	C5orf34
Name	chromosome 5 open reading frame 34
Location	5p12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32363
Ensembl gene	ENSG00000172244
Ensembl biotype	protein_coding
Entrez	375444

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000306862, ENST00000503655, ENST00000506213, ENST00000509489, ENST00000514462, ENST00000951952

RefSeq mRNA: 1 — MANE Select: NM_198566 NM_198566

CCDS: CCDS3946

Canonical transcript exons

ENST00000306862 — 13 exons

Exon	Start	End
ENSE00001148844	43486709	43487111
ENSE00001148855	43509145	43509375
ENSE00001175036	43487909	43487949
ENSE00001175042	43490631	43490729
ENSE00001175078	43502372	43502495
ENSE00001175092	43514806	43515148
ENSE00003465872	43492215	43492309
ENSE00003528151	43508577	43508666
ENSE00003581573	43505748	43506394
ENSE00003604610	43492720	43492890
ENSE00003617690	43493543	43493612
ENSE00003652662	43494510	43494601
ENSE00003787085	43503665	43503760

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 97.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.7045 / max 145.1053, expressed in 1503 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61568	4.1898	1385
61567	2.7442	872
61566	0.7705	391

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.86	gold quality
oocyte	CL:0000023	96.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.81	gold quality
ventricular zone	UBERON:0003053	84.00	gold quality
embryo	UBERON:0000922	78.95	gold quality
ganglionic eminence	UBERON:0004023	78.95	gold quality
calcaneal tendon	UBERON:0003701	77.16	gold quality
stromal cell of endometrium	CL:0002255	71.95	gold quality
smooth muscle tissue	UBERON:0001135	70.04	gold quality
right testis	UBERON:0004534	70.03	gold quality
left testis	UBERON:0004533	69.18	gold quality
testis	UBERON:0000473	69.09	gold quality
cortical plate	UBERON:0005343	69.02	gold quality
rectum	UBERON:0001052	68.60	gold quality
lymph node	UBERON:0000029	68.53	gold quality
popliteal artery	UBERON:0002250	68.24	gold quality
tibial artery	UBERON:0007610	68.21	gold quality
ectocervix	UBERON:0012249	67.86	gold quality
prefrontal cortex	UBERON:0000451	67.77	gold quality
vermiform appendix	UBERON:0001154	67.56	gold quality
aorta	UBERON:0000947	66.93	gold quality
descending thoracic aorta	UBERON:0002345	66.76	gold quality
left coronary artery	UBERON:0001626	66.66	gold quality
granulocyte	CL:0000094	66.65	gold quality
skin of leg	UBERON:0001511	66.65	gold quality
adrenal tissue	UBERON:0018303	66.42	gold quality
body of uterus	UBERON:0009853	66.24	gold quality
skin of abdomen	UBERON:0001416	66.22	gold quality
Brodmann (1909) area 9	UBERON:0013540	66.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting C5orf34, 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-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-3923	99.52	69.21	446
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-628-3P	99.04	68.37	814
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-4289	98.26	66.90	810
HSA-MIR-4724-3P	97.57	67.31	785
HSA-MIR-6082	96.40	70.86	216

Literature-anchored findings (GeneRIF, showing 3)

• Study results firstly revealed that C5orf34 might play a facilitating role in lung adenocarcinoma (LAD) development and progression by regulating MAPK signaling pathway. Furthermore, data implied that C5orf34 may be a potential predictor and treatment target for LAD. (PMID:30771479)
• Integration of genomics and transcriptomics highlights the crucial role of chromosome 5 open reading frame 34 in various human malignancies. (PMID:38078888)
• Comprehensive pan-cancer analysis reveals that C5orf34 regulates the proliferation and mortality of lung cancer. (PMID:38951221)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkeyp-118g6.3	ENSDARG00000092445
mus_musculus	4833420G17Rik	ENSMUSG00000062822
rattus_norvegicus	C2h5orf34	ENSRNOG00000017581

Protein

Protein identifiers

Uncharacterized protein C5orf34 — Q96MH7 (reviewed: Q96MH7)

All UniProt accessions (3): Q96MH7, E9PBC3, H0YAD0

RefSeq proteins (1): NP_940968* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027830	C5orf34-like_N	Domain
IPR027865	C5orf34-like_C	Domain
IPR053899	C5orf34-like_2nd	Domain
IPR053900	C5orf34-like_dom	Domain
IPR053901	C5orf34-like	Family

Pfam: PF15016, PF15025, PF22833, PF22834

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MH7-F1	72.63	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 116 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, CADWELL_ATG16L1_TARGETS_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, COATES_MACROPHAGE_M1_VS_M2_DN, FISCHER_DREAM_TARGETS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_0, NUYTTEN_EZH2_TARGETS_DN, CHESLER_BRAIN_QTL_CIS, GEORGES_TARGETS_OF_MIR192_AND_MIR215

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

486 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C5orf34	CCDC124	Q96CT7	749
C5orf34	COPS8	Q99627	684
C5orf34	HAAO	P46952	634
C5orf34	PIK3R5	Q8WYR1	479
C5orf34	RDH12	Q96NR8	461
C5orf34	ZC2HC1C	Q53FD0	433
C5orf34	TMEM267	Q0VDI3	430
C5orf34	ZNF391	Q9UJN7	399
C5orf34	ARHGAP40	Q5TG30	371
C5orf34	LRRC66	Q68CR7	370
C5orf34	LRRC36	Q1X8D7	359
C5orf34	DNAJC21	Q5F1R6	357
C5orf34	HAPLN3	Q96S86	353
C5orf34	PPP1R16B	Q96T49	330
C5orf34	DENND4B	O75064	321

IntAct

35 interactions, top by confidence:

A	B	Type	Score
DNAJC7	PLD2	psi-mi:“MI:0914”(association)	0.640
TKT	POTEF	psi-mi:“MI:0914”(association)	0.530
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
IL17RA	DDX11L8	psi-mi:“MI:0914”(association)	0.350
AK9	MYO9A	psi-mi:“MI:0914”(association)	0.350
CRYL1	MYO9A	psi-mi:“MI:0914”(association)	0.350
GATD1		psi-mi:“MI:0914”(association)	0.350
THBS3	APBB1	psi-mi:“MI:0914”(association)	0.350
DOCK5	DPYSL4	psi-mi:“MI:0914”(association)	0.350
RCCD1	ZNF609	psi-mi:“MI:0914”(association)	0.350
BBS7	PER1	psi-mi:“MI:0914”(association)	0.350
IQCF1	TBC1D4	psi-mi:“MI:0914”(association)	0.350
RFXANK	HAUS5	psi-mi:“MI:0914”(association)	0.350
IRF3	USP19	psi-mi:“MI:0914”(association)	0.350
CSNK2B	OSBPL8	psi-mi:“MI:0914”(association)	0.350
FKBP5	IFT56	psi-mi:“MI:0914”(association)	0.350
PPP4R1L	IFT56	psi-mi:“MI:0914”(association)	0.350
LURAP1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
BBS7	TARS3	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
DNAJA2	DENND11	psi-mi:“MI:0914”(association)	0.350
GATD1	MYO9A	psi-mi:“MI:0914”(association)	0.350
DRC3	ZNF195	psi-mi:“MI:0914”(association)	0.350
RAD51B	APAF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (46): C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A4D1B5, A4FUB0, D3IUT5, D3Z6S9, F1QB81, O60281, O70167, P53995, Q0VCQ7, Q13129, Q14699, Q2T9I9, Q3TCV3, Q3UJC8, Q402B2, Q4R9E9, Q5RA75, Q5RB52, Q5XI46, Q5XI56, Q5ZKI7, Q659A1, Q6AYM1, Q6DRL4, Q6INI0, Q6PUR7, Q7Z2Z1, Q8BQ33, Q8CCC3, Q8CDN1, Q8IXR9, Q8K1K4, Q8NB91, Q8ND61, Q90WN7, Q920I9, Q92674

Diamond homologs: A4FUB0, Q3UJC8, Q6AYM1, Q96MH7

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	9
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	Pathogenic

SpliceAI

1795 predictions. Top by Δscore:

Variant	Effect	Δscore
5:43492209:CAGTA:C	donor_loss	1.0000
5:43492210:AGTAC:A	donor_loss	1.0000
5:43492211:GTACC:G	donor_loss	1.0000
5:43492212:TA:T	donor_loss	1.0000
5:43492213:A:AT	donor_loss	1.0000
5:43492214:C:CA	donor_loss	1.0000
5:43492715:CCCA:C	donor_loss	1.0000
5:43492716:CCA:C	donor_loss	1.0000
5:43492717:CA:C	donor_loss	1.0000
5:43492718:ACCT:A	donor_loss	1.0000
5:43492719:C:CT	donor_loss	1.0000
5:43493537:ACAT:A	donor_loss	1.0000
5:43493538:CATA:C	donor_loss	1.0000
5:43493539:ATACC:A	donor_loss	1.0000
5:43493540:TAC:T	donor_loss	1.0000
5:43493541:A:AC	donor_gain	1.0000
5:43493541:A:T	donor_loss	1.0000
5:43493542:C:CC	donor_gain	1.0000
5:43493608:GAATT:G	acceptor_gain	1.0000
5:43493609:AATT:A	acceptor_gain	1.0000
5:43493609:AATTC:A	acceptor_loss	1.0000
5:43493610:ATT:A	acceptor_gain	1.0000
5:43493611:TT:T	acceptor_gain	1.0000
5:43493612:TCTG:T	acceptor_loss	1.0000
5:43493613:C:CA	acceptor_loss	1.0000
5:43493613:C:CC	acceptor_gain	1.0000
5:43493614:T:G	acceptor_loss	1.0000
5:43494505:CTTA:C	donor_loss	1.0000
5:43494506:TTACC:T	donor_loss	1.0000
5:43494507:TACCT:T	donor_loss	1.0000

AlphaMissense

4180 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:43505929:A:G	W251R	0.988
5:43505929:A:T	W251R	0.988
5:43506364:A:G	W106R	0.988
5:43506364:A:T	W106R	0.988
5:43487913:A:C	F572L	0.977
5:43487913:A:T	F572L	0.977
5:43487915:A:G	F572L	0.977
5:43506251:A:C	F143L	0.977
5:43506251:A:T	F143L	0.977
5:43506253:A:G	F143L	0.977
5:43506362:C:A	W106C	0.977
5:43506362:C:G	W106C	0.977
5:43509238:A:C	F34L	0.975
5:43509238:A:T	F34L	0.975
5:43509240:A:G	F34L	0.975
5:43490707:A:G	W535R	0.973
5:43490707:A:T	W535R	0.973
5:43503759:A:G	W312R	0.973
5:43503759:A:T	W312R	0.973
5:43509163:A:C	F59L	0.970
5:43509163:A:T	F59L	0.970
5:43509165:A:G	F59L	0.970
5:43492763:A:G	L481P	0.969
5:43505770:A:G	C304R	0.969
5:43505927:C:A	W251C	0.969
5:43505927:C:G	W251C	0.969
5:43508638:C:G	R75P	0.969
5:43487914:A:G	F572S	0.968
5:43509248:C:T	G31D	0.964
5:43506224:G:C	S152R	0.963

dbSNP variants (sampled 300 via entrez): RS1000022642 (5:43494578 T>C), RS1000186702 (5:43499795 C>A,T), RS1000197387 (5:43492425 C>A), RS1000214662 (5:43498880 A>T), RS1000493726 (5:43512046 A>G), RS1000494492 (5:43511351 G>A), RS1000609027 (5:43511084 C>T), RS1000674020 (5:43517047 T>C), RS1000696822 (5:43491110 G>A), RS1000795894 (5:43486232 G>A), RS1001199645 (5:43509476 T>C), RS1001277037 (5:43508026 C>T), RS1001402103 (5:43514319 C>T), RS1001415762 (5:43493385 T>C,G), RS1001704920 (5:43491142 T>C)

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

6 associations (top):

Study	Trait	p-value
GCST003265_349	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_380	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_381	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST003265_398	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-06
GCST90002388_361	Lymphocyte count	4.000000e-13
GCST90002407_454	White blood cell count	1.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	3
Air Pollutants	increases abundance, increases expression, decreases expression	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	affects expression	1
sodium arsenite	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
resorcinol	decreases expression	1
1-nitropyrene	increases expression	1
clothianidin	increases expression	1
ICG 001	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Atrazine	decreases expression	1
Azathioprine	decreases expression	1
Benzo(a)pyrene	increases expression	1
Calcitriol	affects cotreatment, decreases expression	1
Cannabidiol	increases expression	1
Coumestrol	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Lucanthone	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Oxygen	decreases expression	1
Quercetin	increases expression	1

Clinical trials (associated diseases)

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