C15orf62

Summary

C15orf62 (chromosome 15 open reading frame 62, HGNC:34489) is a protein-coding gene on chromosome 15q15.1, encoding Uncharacterized protein C15orf62, mitochondrial (A8K5M9).

Predicted to enable small GTPase binding activity. Predicted to be involved in Rho protein signal transduction; positive regulation of cellular component biogenesis; and regulation of cell shape. Located in mitochondrion.

Source: NCBI Gene 643338 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001130448

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34489
Approved symbol	C15orf62
Name	chromosome 15 open reading frame 62
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Aliases	LOC643338
Ensembl gene	ENSG00000188277
Ensembl biotype	protein_coding
Entrez	643338

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000344320

RefSeq mRNA: 1 — MANE Select: NM_001130448 NM_001130448

CCDS: CCDS45229

Canonical transcript exons

ENST00000344320 — 1 exons

Exon	Start	End
ENSE00001378058	40769980	40772449

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 94.07.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1311 / max 22.6582, expressed in 43 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146132	0.1164	41
146131	0.0146	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	94.07	gold quality
buccal mucosa cell	CL:0002336	86.69	gold quality
esophagus mucosa	UBERON:0002469	84.42	gold quality
skin of leg	UBERON:0001511	81.92	gold quality
oral cavity	UBERON:0000167	80.25	gold quality
amniotic fluid	UBERON:0000173	80.10	gold quality
tendon of biceps brachii	UBERON:0008188	79.16	silver quality
skin of abdomen	UBERON:0001416	79.04	gold quality
zone of skin	UBERON:0000014	78.74	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	77.30	gold quality
esophagus squamous epithelium	UBERON:0006920	76.28	gold quality
minor salivary gland	UBERON:0001830	76.01	gold quality
esophagus	UBERON:0001043	75.46	gold quality
mouth mucosa	UBERON:0003729	74.30	gold quality
pharyngeal mucosa	UBERON:0000355	73.41	silver quality
granulocyte	CL:0000094	73.30	gold quality
cerebellar hemisphere	UBERON:0002245	73.10	gold quality
cerebellar cortex	UBERON:0002129	73.01	gold quality
right hemisphere of cerebellum	UBERON:0014890	72.95	gold quality
saliva-secreting gland	UBERON:0001044	72.36	gold quality
right lobe of liver	UBERON:0001114	71.18	gold quality
palpebral conjunctiva	UBERON:0001812	71.16	gold quality
cerebellum	UBERON:0002037	70.83	gold quality
vagina	UBERON:0000996	70.17	gold quality
stromal cell of endometrium	CL:0002255	69.15	gold quality
tonsil	UBERON:0002372	68.64	gold quality
descending thoracic aorta	UBERON:0002345	68.32	gold quality
ectocervix	UBERON:0012249	67.55	gold quality
endocervix	UBERON:0000458	67.34	gold quality
nasal cavity mucosa	UBERON:0001826	67.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting C15orf62, 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-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-3152-3P	99.10	66.35	678
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-4308	97.56	67.13	1385
HSA-MIR-4287	97.55	67.24	1247
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-5089-3P	97.50	67.82	758

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm14137	ENSMUSG00000055926
rattus_norvegicus	C3h15orf62	ENSRNOG00000071065

Paralogs (5): CDC42EP1 (ENSG00000128283), CDC42EP2 (ENSG00000149798), CDC42EP3 (ENSG00000163171), CDC42EP5 (ENSG00000167617), CDC42EP4 (ENSG00000179604)

Protein

Protein identifiers

Uncharacterized protein C15orf62, mitochondrial — A8K5M9 (reviewed: A8K5M9)

All UniProt accessions (1): A8K5M9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Mitochondrion.

RefSeq proteins (1): NP_001123920* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051296	Cdc42_Effector_BORG/CEP	Family

UniProt features (4 total): transit peptide 1, 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-A8K5M9-F1	61.19	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 73 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_ACTIN_FILAMENT_POLYMERIZATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ASSEMBLY

GO Biological Process (4): Rho protein signal transduction (GO:0007266), regulation of cell shape (GO:0008360), positive regulation of actin filament polymerization (GO:0030838), positive regulation of pseudopodium assembly (GO:0031274)

GO Molecular Function (1): small GTPase binding (GO:0031267)

GO Cellular Component (4): cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytoskeleton (GO:0005856), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
small GTPase-mediated signal transduction	1
regulation of cell morphogenesis	1
regulation of biological quality	1
actin filament polymerization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
pseudopodium assembly	1
regulation of pseudopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
GTPase binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C15orf62	C15orf61	A6NNL5	630
C15orf62	MISO1	Q6P1S2	626
C15orf62	DNAJC17	Q9NVM6	586
C15orf62	MRPS18A	Q9NVS2	488
C15orf62	MRPL53	Q96EL3	487
C15orf62	DNAJC4	Q9NNZ3	480
C15orf62	GFM2	Q969S9	478
C15orf62	ZFYVE19	Q96K21	475
C15orf62	MTERF4	Q7Z6M4	461
C15orf62	DNAJC11	Q9NVH1	432
C15orf62	MTHFD2L	Q9H903	416
C15orf62	TSPOAP1	O95153	414
C15orf62	NDUFAF1	Q9Y375	402
C15orf62	GLYAT	Q6IB77	390
C15orf62	RPL36AL	Q969Q0	370

IntAct

2 interactions, top by confidence:

A	B	Type	Score
NEDD4	C15orf62	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (1): C15orf62 (Protein-peptide)

ESM2 similar proteins: A0FGR0, A0JMD2, A1L253, A3KP40, A7LKB2, A8K5M9, B1AXH1, B1AZP2, B5X7E4, B5XBI1, E2QSX5, F1QPR4, F1QR98, F1RDM5, O14490, O14613, O35413, O54834, O94875, O95886, P0CAX8, P28290, P97836, P97837, P97838, P97839, Q2HJ75, Q3UTJ2, Q3ZBS1, Q5REU9, Q5SYE7, Q60592, Q62417, Q6P0Q8, Q6PD31, Q6PFD5, Q7ZYZ6, Q80Y24, Q8BJ42, Q8BLN6

Diamond homologs: A8K5M9, Q8CE97

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

322 predictions. Top by Δscore:

Variant	Effect	Δscore
15:40770488:T:TA	acceptor_gain	0.9700
15:40770489:G:A	acceptor_gain	0.9600
15:40770973:G:GT	donor_gain	0.9600
15:40770485:C:A	donor_gain	0.9500
15:40770993:G:GT	donor_gain	0.9500
15:40770188:G:GG	donor_gain	0.9400
15:40770521:T:TA	donor_gain	0.9400
15:40772054:T:TA	donor_gain	0.9000
15:40770464:TGAA:T	donor_gain	0.8800
15:40770532:T:TA	donor_gain	0.8800
15:40772360:G:GT	acceptor_gain	0.8800
15:40770426:A:AC	donor_gain	0.8500
15:40770427:C:CC	donor_gain	0.8500
15:40770102:G:A	donor_gain	0.8100
15:40770183:CTCCA:C	donor_gain	0.8100
15:40772021:A:AC	donor_gain	0.7900
15:40770988:C:G	donor_gain	0.7800
15:40770382:TGAGG:T	acceptor_gain	0.7700
15:40770184:TCCAG:T	donor_loss	0.7600
15:40770186:CAG:C	donor_loss	0.7600
15:40770187:AGT:A	donor_loss	0.7600
15:40770188:GTA:G	donor_loss	0.7600
15:40770189:T:C	donor_loss	0.7600
15:40770190:AAGTG:A	donor_loss	0.7600
15:40772347:A:T	donor_gain	0.7500
15:40770191:AGTGC:A	donor_loss	0.7400
15:40770192:G:C	donor_loss	0.7400
15:40770186:CA:C	donor_gain	0.7300
15:40770973:G:T	donor_gain	0.7300
15:40770147:C:CT	donor_gain	0.7200

AlphaMissense

1115 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:40770940:T:C	F149L	0.983
15:40770942:C:A	F149L	0.983
15:40770942:C:G	F149L	0.983
15:40770955:G:T	G154W	0.980
15:40770941:T:C	F149S	0.979
15:40770980:T:C	L162P	0.979
15:40770505:T:A	W4R	0.975
15:40770505:T:C	W4R	0.975
15:40770738:G:C	K81N	0.974
15:40770738:G:T	K81N	0.974
15:40770955:G:A	G154R	0.973
15:40770955:G:C	G154R	0.973
15:40770956:G:T	G154V	0.973
15:40770989:T:C	L165P	0.973
15:40770507:G:C	W4C	0.968
15:40770507:G:T	W4C	0.968
15:40770745:C:A	R84S	0.956
15:40770968:T:A	L158H	0.949
15:40770968:T:C	L158P	0.947
15:40770956:G:A	G154E	0.941
15:40770751:T:G	Y86D	0.939
15:40770977:T:A	V161D	0.938
15:40770779:T:C	I95T	0.935
15:40770965:T:C	L157P	0.932
15:40770736:A:G	K81E	0.930
15:40770749:T:A	L85H	0.930
15:40770631:T:C	Y46H	0.927
15:40770740:C:A	P82H	0.927
15:40770950:A:T	D152V	0.921
15:40770953:T:C	L153P	0.918

dbSNP variants (sampled 300 via entrez): RS1000210800 (15:40771255 TG>T,TGG), RS1000581857 (15:40768519 G>A,T), RS1000599079 (15:40771403 G>A), RS1001431868 (15:40771135 A>G), RS1001635542 (15:40772359 C>T), RS1001902485 (15:40768995 G>A), RS1002002912 (15:40772777 T>G), RS1002207689 (15:40768833 G>C), RS1002523608 (15:40768347 C>T), RS1002555256 (15:40771412 G>A), RS1002575815 (15:40768125 G>A,C), RS1003538856 (15:40769524 C>T), RS1003571441 (15:40769241 C>G,T), RS1004542929 (15:40770833 C>G,T), RS1006719730 (15:40768509 C>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

4 associations (top):

Study	Trait	p-value
GCST008559_8	Anxiety and stress-related disorders	7.000000e-07
GCST010725_23	Malaria	2.000000e-06
GCST010725_38	Malaria	3.000000e-06
GCST010725_80	Malaria	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010098	stress-related disorder

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
bisphenol A	decreases methylation	1
titanium dioxide	increases expression	1
aflatoxin B2	decreases methylation	1
bisphenol S	decreases methylation	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Cisplatin	increases expression	1
Copper	affects cotreatment, decreases expression	1
Estradiol	decreases expression	1
Methotrexate	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Silicon Dioxide	decreases expression	1
Smoke	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1
S-Nitrosoglutathione	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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