CCDC198

Summary

CCDC198 (coiled-coil domain containing 198, HGNC:20189) is a protein-coding gene on chromosome 14q22.3, encoding Factor associated with metabolism and energy (Q9NVL8). May be involved in tuning the metabolism, energy expenditure, and excretion processes.

Predicted to be involved in energy homeostasis. Predicted to be part of cytoplasmic vesicle and plasma membrane.

Source: NCBI Gene 55195 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_018168

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20189
Approved symbol	CCDC198
Name	coiled-coil domain containing 198
Location	14q22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10650, FAME
Ensembl gene	ENSG00000100557
Ensembl biotype	protein_coding
Entrez	55195

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron

ENST00000216445, ENST00000422976, ENST00000524996, ENST00000526336, ENST00000526745, ENST00000527032, ENST00000529860, ENST00000530417, ENST00000532286, ENST00000534126, ENST00000534528, ENST00000862316, ENST00000862317

RefSeq mRNA: 6 — MANE Select: NM_018168 NM_001283056, NM_001283057, NM_001283058, NM_001283059, NM_001283060, NM_018168

CCDS: CCDS61458, CCDS61459, CCDS9730

Canonical transcript exons

ENST00000216445 — 6 exons

Exon	Start	End
ENSE00000867380	57493493	57493857
ENSE00001094532	57469300	57471590
ENSE00003487234	57481559	57481660
ENSE00003557590	57480595	57480754
ENSE00003569687	57483065	57483151
ENSE00003672984	57490989	57491071

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.22.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9340 / max 161.6056, expressed in 98 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143405	0.8920	97
143404	0.0420	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.22	gold quality
metanephros cortex	UBERON:0010533	98.99	gold quality
body of pancreas	UBERON:0001150	97.07	gold quality
adult mammalian kidney	UBERON:0000082	95.43	gold quality
right lobe of liver	UBERON:0001114	94.98	gold quality
renal medulla	UBERON:0000362	94.86	gold quality
gall bladder	UBERON:0002110	94.70	gold quality
kidney	UBERON:0002113	92.97	gold quality
pancreas	UBERON:0001264	90.44	gold quality
cortex of kidney	UBERON:0001225	88.44	gold quality
liver	UBERON:0002107	88.16	gold quality
buccal mucosa cell	CL:0002336	88.15	gold quality
nephron tubule	UBERON:0001231	86.32	gold quality
kidney epithelium	UBERON:0004819	86.19	gold quality
metanephros	UBERON:0000081	85.28	gold quality
caput epididymis	UBERON:0004358	84.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.10	gold quality
epithelial cell of pancreas	CL:0000083	82.42	silver quality
islet of Langerhans	UBERON:0000006	81.94	gold quality
renal glomerulus	UBERON:0000074	79.22	gold quality
metanephric glomerulus	UBERON:0004736	78.25	gold quality
pancreatic ductal cell	CL:0002079	78.03	gold quality
left uterine tube	UBERON:0001303	74.86	gold quality
fallopian tube	UBERON:0003889	73.89	gold quality
cauda epididymis	UBERON:0004360	70.72	gold quality
oviduct epithelium	UBERON:0004804	65.15	gold quality
duodenum	UBERON:0002114	59.64	gold quality
cerebellar vermis	UBERON:0004720	58.82	gold quality
endometrium	UBERON:0001295	58.29	gold quality
endocervix	UBERON:0000458	57.27	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-124472	yes	256.34
E-HCAD-10	yes	29.26
E-CURD-119	yes	22.87
E-ANND-3	yes	10.94
E-GEOD-81608	yes	8.24
E-ENAD-27	no	3.27
E-MTAB-6142	no	0.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting CCDC198, 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-5193	100.00	67.26	1744
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-6833-5P	99.50	68.93	1161

Literature-anchored findings (GeneRIF, showing 1)

• According to our analysis, three proteins, namely aristaless-like homeobox1 isoform X1 (ALX1), major histocompatibility complex polypeptide-related sequence A (MICA), and uncharacterized protein C14orf105 isoform X12 were found to be potential markers for Opisthorchis viverrini (OV)- infection, as they were predominantly found in all OV-infected groups (PMID:29936472)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc198	ENSMUSG00000021850
rattus_norvegicus	Ccdc198	ENSRNOG00000062766

Protein

Protein identifiers

Factor associated with metabolism and energy — Q9NVL8 (reviewed: Q9NVL8)

Alternative names: Protein CCDC198

All UniProt accessions (6): Q9NVL8, E9PI50, E9PSE9, F5GWJ3, H0YES7, Q05C89

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in tuning the metabolism, energy expenditure, and excretion processes.

Subcellular location. Cell membrane. Cytoplasmic vesicle.

RefSeq proteins (6): NP_001269985, NP_001269986, NP_001269987, NP_001269988, NP_001269989, NP_060638* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029235	FAME	Family

Pfam: PF15398

UniProt features (10 total): region of interest 2, compositionally biased region 2, sequence conflict 2, initiator methionine 1, chain 1, lipid moiety-binding region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVL8-F1	60.11	0.07

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_ENERGY_HOMEOSTASIS, GOBP_HOMEOSTATIC_PROCESS, ZHENG_BOUND_BY_FOXP3, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, VANDESLUIS_COMMD1_TARGETS_GROUP_3_UP, LEE_BMP2_TARGETS_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, METTL14_TARGET_GENES, TERF1_TARGET_GENES, MIR6867_5P, MIR506_3P

GO Biological Process (1): energy homeostasis (GO:0097009)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), cytoplasmic vesicle (GO:0031410), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
multicellular organismal-level homeostasis	1
binding	1
membrane	1
cell periphery	1
cytoplasm	1
intracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

296 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC198	SLC35F4	A4IF30	644
CCDC198	OR10G6	Q8NH81	615
CCDC198	OR8B8	Q15620	488
CCDC198	JADE2	Q9NQC1	480
CCDC198	ANKRD18B	A2A2Z9	478
CCDC198	PM20D2	Q8IYS1	447
CCDC198	DEFB130A	P0DP74	445
CCDC198	ARMH4	Q86TY3	401
CCDC198	SPAG11A	Q6PDA7	398
CCDC198	ZNF705EP	A8MWA4	398
CCDC198	CATSPERG	Q6ZRH7	397
CCDC198	TMEM132E	Q6IEE7	395
CCDC198	SLC49A3	Q6UXD7	375
CCDC198	ZBTB5	O15062	370
CCDC198	ARB2A	Q8WUF8	370

IntAct

53 interactions, top by confidence:

A	B	Type	Score
CCDC198	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	FHL3	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
PDE4DIP	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	KRT40	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
TEX11	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	CBY2	psi-mi:“MI:0915”(physical association)	0.560
PNMA1	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	MDFI	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	LZTS2	psi-mi:“MI:0915”(physical association)	0.560
SSX2IP	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	TRAF2	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	TRAF1	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	PDE4DIP	psi-mi:“MI:0915”(physical association)	0.560
SIAH1	CCDC198	psi-mi:“MI:0915”(physical association)	0.560
CCDC198	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
MDFI	CCDC198	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (44): C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), C14orf105 (Two-hybrid), TEX11 (Two-hybrid), LZTS2 (Two-hybrid), SSX2IP (Two-hybrid), KRT40 (Two-hybrid), FAM9B (Two-hybrid)

ESM2 similar proteins: A0A1B0GTZ2, A3RM20, A4UHQ4, A6H7E2, A6NGH7, A9JSR5, B0BK70, O55527, O74982, P04861, P04862, P06747, P0C137, P0C139, P0C142, P14253, P14254, P33493, P35940, P40167, P69479, P69480, P69738, Q0GBX8, Q13352, Q14BK3, Q2T9U9, Q2YDE5, Q32L17, Q3UYG1, Q4KLZ4, Q4VKV6, Q5I0J4, Q5RE16, Q66HB6, Q6AXY9, Q810N5, Q8IR45, Q8IYM0, Q8NCU1

Diamond homologs: Q9CPZ1, Q9NVL8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1168 predictions. Top by Δscore:

Variant	Effect	Δscore
14:57471587:TTTC:T	acceptor_gain	1.0000
14:57483192:CA:C	acceptor_gain	1.0000
14:57483198:A:C	acceptor_gain	1.0000
14:57483201:A:AC	acceptor_gain	1.0000
14:57483201:A:C	acceptor_gain	1.0000
14:57485638:C:A	donor_gain	1.0000
14:57491081:T:TC	acceptor_gain	1.0000
14:57471588:TTCC:T	acceptor_loss	0.9900
14:57471589:TCC:T	acceptor_loss	0.9900
14:57471590:CCTAC:C	acceptor_loss	0.9900
14:57471591:C:CC	acceptor_gain	0.9900
14:57471591:CTACA:C	acceptor_loss	0.9900
14:57471592:T:C	acceptor_loss	0.9900
14:57481558:CCT:C	donor_gain	0.9900
14:57481658:CTG:C	acceptor_gain	0.9900
14:57483184:CCTCA:C	acceptor_gain	0.9900
14:57483188:A:AC	acceptor_gain	0.9900
14:57483188:A:C	acceptor_gain	0.9900
14:57483191:CCA:C	acceptor_gain	0.9900
14:57483192:C:T	acceptor_gain	0.9900
14:57483193:A:AC	acceptor_gain	0.9900
14:57483193:A:C	acceptor_gain	0.9900
14:57483193:A:T	acceptor_gain	0.9900
14:57483198:A:AC	acceptor_gain	0.9900
14:57483207:C:CT	acceptor_gain	0.9900
14:57483208:A:T	acceptor_gain	0.9900
14:57485637:T:TA	donor_gain	0.9900
14:57490987:A:AC	donor_gain	0.9900
14:57490988:C:CC	donor_gain	0.9900
14:57471589:TC:T	acceptor_gain	0.9800

AlphaMissense

1971 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:57491022:A:C	S91R	0.968
14:57491022:A:T	S91R	0.968
14:57491024:T:G	S91R	0.968
14:57491013:T:A	K94N	0.958
14:57491013:T:G	K94N	0.958
14:57491014:T:A	K94I	0.918
14:57491017:A:G	I93T	0.898
14:57471406:C:A	R280S	0.895
14:57471406:C:G	R280S	0.895
14:57471370:A:C	F292L	0.891
14:57471370:A:T	F292L	0.891
14:57471372:A:G	F292L	0.891
14:57491017:A:T	I93N	0.890
14:57471379:G:C	F289L	0.875
14:57471379:G:T	F289L	0.875
14:57471381:A:G	F289L	0.875
14:57491007:A:C	H96Q	0.874
14:57491007:A:T	H96Q	0.874
14:57491017:A:C	I93S	0.874
14:57471460:G:C	S262R	0.866
14:57471460:G:T	S262R	0.866
14:57471462:T:G	S262R	0.866
14:57491009:G:C	H96D	0.866
14:57491014:T:G	K94T	0.850
14:57493712:C:G	G2R	0.844
14:57491020:A:G	I92T	0.843
14:57491020:A:C	I92S	0.839
14:57491020:A:T	I92N	0.834
14:57481595:C:A	K153N	0.809
14:57481595:C:G	K153N	0.809

dbSNP variants (sampled 300 via entrez): RS1000117454 (14:57484989 T>C), RS1000299211 (14:57488577 C>G), RS1000341873 (14:57471594 CA>C,CAA), RS1000500759 (14:57476982 A>G), RS1000560818 (14:57474183 G>A), RS1000563182 (14:57489525 A>T), RS1000594398 (14:57489255 C>G,T), RS1000708732 (14:57493186 G>A), RS1000941078 (14:57477918 G>A,T), RS1001105271 (14:57475578 G>A,C), RS1001147840 (14:57472783 C>G), RS1001188519 (14:57478580 C>T), RS1001243345 (14:57472456 A>T), RS1001338166 (14:57473526 G>A), RS1001640334 (14:57473893 G>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

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
bisphenol F	affects cotreatment, decreases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
(+)-JQ1 compound	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tretinoin	increases expression	1
Vincristine	decreases expression	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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