FAM194C

Summary

FAM194C (family with sequence similarity 149 member C, HGNC:25320) is a protein-coding gene on chromosome 3p25.1, encoding Uncharacterized protein C3orf20 (Q8ND61).

Located in cytoplasm.

Source: NCBI Gene 84077 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neuromyelitis optica (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_032137

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25320
Approved symbol	FAM194C
Name	family with sequence similarity 149 member C
Location	3p25.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434N1817
Ensembl gene	ENSG00000131379
Ensembl biotype	protein_coding
OMIM	619992
Entrez	84077

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000253697, ENST00000412910, ENST00000435614, ENST00000495387

RefSeq mRNA: 3 — MANE Select: NM_032137 NM_001184957, NM_001184958, NM_032137

CCDS: CCDS33706, CCDS54555

Canonical transcript exons

ENST00000253697 — 17 exons

Exon	Start	End
ENSE00000901255	14684242	14684382
ENSE00000901256	14689997	14690116
ENSE00000901257	14703130	14703262
ENSE00000901258	14704337	14704618
ENSE00000901262	14726901	14727024
ENSE00000901263	14728439	14728688
ENSE00000901264	14757371	14757674
ENSE00000901265	14759891	14759998
ENSE00000901266	14761473	14761615
ENSE00000901267	14772067	14772201
ENSE00001208108	14682170	14682331
ENSE00001287817	14682578	14683197
ENSE00001654400	14675141	14675252
ENSE00003567239	14721653	14721784
ENSE00003591664	14714007	14714159
ENSE00003602053	14715289	14715409
ENSE00003893759	14772791	14773036

Expression profiles

Bgee: expression breadth broad, 48 present calls, max score 79.20.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0299 / max 36.9890, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35470	0.0299	3

Top tissues by expression

191 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	79.20	gold quality
cardiac muscle of right atrium	UBERON:0003379	73.90	gold quality
left ventricle myocardium	UBERON:0006566	73.76	gold quality
sperm	CL:0000019	70.37	gold quality
left testis	UBERON:0004533	69.04	gold quality
kidney epithelium	UBERON:0004819	69.03	gold quality
right testis	UBERON:0004534	67.77	gold quality
upper arm skin	UBERON:0004263	67.44	gold quality
testis	UBERON:0000473	67.37	gold quality
pancreatic ductal cell	CL:0002079	67.20	silver quality
epithelial cell of pancreas	CL:0000083	66.58	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	65.48	gold quality
nasal cavity epithelium	UBERON:0005384	65.32	gold quality
epithelium of mammary gland	UBERON:0003244	62.97	gold quality
mammary duct	UBERON:0001765	62.83	gold quality
tibialis anterior	UBERON:0001385	62.09	silver quality
myocardium	UBERON:0002349	61.79	gold quality
gingival epithelium	UBERON:0001949	58.78	gold quality
cartilage tissue	UBERON:0002418	58.28	gold quality
gingiva	UBERON:0001828	56.87	gold quality
jejunal mucosa	UBERON:0000399	54.53	gold quality
quadriceps femoris	UBERON:0001377	53.99	gold quality
vastus lateralis	UBERON:0001379	53.20	gold quality
Brodmann (1909) area 46	UBERON:0006483	52.59	gold quality
deltoid	UBERON:0001476	52.46	gold quality
pons	UBERON:0000988	52.24	gold quality
adult organism	UBERON:0007023	51.83	gold quality
ileal mucosa	UBERON:0000331	51.60	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	51.31	gold quality
pigmented layer of retina	UBERON:0001782	51.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting FAM194C, 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-4492	99.87	68.25	3611
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-7154-3P	97.65	65.02	985

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4930590J08Rik	ENSMUSG00000034063
rattus_norvegicus	C4h3orf20	ENSRNOG00000022155

Paralogs (2): ERICH6 (ENSG00000163645), ERICH6B (ENSG00000165837)

Protein

Protein identifiers

Uncharacterized protein C3orf20 — Q8ND61 (reviewed: Q8ND61)

All UniProt accessions (1): Q8ND61

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8ND61-1	1	yes
Q8ND61-2	2

RefSeq proteins (3): NP_001171886, NP_001171887, NP_115513* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029281	FAM194_C	Domain

Pfam: PF14977

UniProt features (15 total): sequence variant 9, region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8ND61-F1	59.33	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): TAL1ALPHAE47_01, CCANNAGRKGGC_UNKNOWN, WGTTNNNNNAAA_UNKNOWN, TAL1BETAITF2_01, GSE21927_EL4_VS_MCA203_TUMOR_MONOCYTES_DN, chr3p25

GO Biological Process (0):

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

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

664 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM194C	C5orf47	Q569G3	576
FAM194C	C16orf96	A6NNT2	570
FAM194C	FREY1	C9JXX5	567
FAM194C	TEX38	Q6PEX7	527
FAM194C	EBLN1	P0CF75	479
FAM194C	ARRDC5	A6NEK1	448
FAM194C	NR2C2AP	Q86WQ0	447
FAM194C	ZNF606	Q8WXB4	447
FAM194C	OR8U1	Q8NH10	431
FAM194C	ATP13A5	Q4VNC0	420
FAM194C	FIMP1	Q96LL3	415
FAM194C	MEIKIN	A0A087WXM9	411
FAM194C	ODF4	Q2M2E3	403
FAM194C	OR4E1	P0C645	401
FAM194C	URB2	Q14146	400

IntAct

3 interactions, top by confidence:

A	B	Type	Score
C3orf20	BIRC6	psi-mi:“MI:0915”(physical association)	0.500
C3orf20	HSPA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): BIRC6 (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), RPL24 (Cross-Linking-MS (XL-MS)), RPS27L (Cross-Linking-MS (XL-MS)), MRPL1 (Cross-Linking-MS (XL-MS)), NAP1L1 (Cross-Linking-MS (XL-MS)), HDGFRP2 (Cross-Linking-MS (XL-MS)), ENO1 (Cross-Linking-MS (XL-MS)), REEP5 (Cross-Linking-MS (XL-MS)), C3orf20 (Affinity Capture-MS), C3orf20 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUJ8, A1A5R7, A2CJ06, A7E3N2, B1H224, B8QB46, D3Z8Y2, D3ZSP7, O55036, P0CG32, P54274, P70371, Q14BQ3, Q29RJ0, Q2HJ46, Q2T9U5, Q3TTP0, Q4R8X0, Q4R9F7, Q4VA55, Q5DTT8, Q5RBH9, Q5TKR9, Q5U310, Q5ZIX8, Q6DJS0, Q6ZQF7, Q71M44, Q7Z2W4, Q7Z7J5, Q80VH0, Q80VM8, Q8BMD7, Q8BZ21, Q8CCG4, Q8CDN1, Q8JZW8, Q8ND61, Q8TE76, Q8VD24

Diamond homologs: D3Z6S9, Q7L0X2, Q8CDN1, Q8ND61

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2684 predictions. Top by Δscore:

Variant	Effect	Δscore
3:14683196:GGGTA:G	donor_loss	1.0000
3:14683198:G:GC	donor_loss	1.0000
3:14683199:TAAGG:T	donor_loss	1.0000
3:14684240:A:AG	acceptor_gain	1.0000
3:14684240:AGTG:A	acceptor_gain	1.0000
3:14684241:G:GG	acceptor_gain	1.0000
3:14684241:GTGG:G	acceptor_gain	1.0000
3:14703263:G:GG	donor_gain	1.0000
3:14726896:TCCA:T	acceptor_loss	1.0000
3:14726897:CCA:C	acceptor_loss	1.0000
3:14726898:CAGC:C	acceptor_loss	1.0000
3:14726899:A:AG	acceptor_gain	1.0000
3:14726899:AG:A	acceptor_loss	1.0000
3:14726899:AGCT:A	acceptor_gain	1.0000
3:14726900:G:A	acceptor_loss	1.0000
3:14726900:G:GA	acceptor_gain	1.0000
3:14726900:GC:G	acceptor_gain	1.0000
3:14726900:GCT:G	acceptor_gain	1.0000
3:14726900:GCTG:G	acceptor_gain	1.0000
3:14726900:GCTGA:G	acceptor_gain	1.0000
3:14728534:C:G	donor_gain	1.0000
3:14759885:T:A	acceptor_gain	1.0000
3:14759886:G:A	acceptor_gain	1.0000
3:14759889:A:AG	acceptor_gain	1.0000
3:14759889:AGT:A	acceptor_gain	1.0000
3:14759890:G:GT	acceptor_gain	1.0000
3:14759890:GT:G	acceptor_gain	1.0000
3:14759890:GTG:G	acceptor_gain	1.0000
3:14759890:GTGC:G	acceptor_gain	1.0000
3:14761464:T:TA	acceptor_gain	1.0000

AlphaMissense

5900 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:14715362:T:A	W463R	0.998
3:14715362:T:C	W463R	0.998
3:14714027:C:A	A394D	0.995
3:14721672:T:C	L485P	0.995
3:14757505:T:A	V692D	0.994
3:14715364:G:C	W463C	0.993
3:14715364:G:T	W463C	0.993
3:14715368:T:A	W465R	0.993
3:14715368:T:C	W465R	0.993
3:14759910:G:C	R755P	0.993
3:14759997:T:C	L784P	0.993
3:14721702:T:A	V495D	0.992
3:14721708:T:C	F497S	0.992
3:14757426:T:C	C666R	0.992
3:14759909:C:A	R755S	0.992
3:14714138:T:A	V431D	0.991
3:14757529:T:C	F700S	0.991
3:14761543:T:C	L808P	0.991
3:14757666:T:C	C746R	0.990
3:14761497:T:C	F793L	0.990
3:14761499:T:A	F793L	0.990
3:14761499:T:G	F793L	0.990
3:14683156:T:C	L148P	0.988
3:14714075:T:C	L410P	0.988
3:14757528:T:C	F700L	0.988
3:14757530:C:A	F700L	0.988
3:14757530:C:G	F700L	0.988
3:14757668:C:G	C746W	0.988
3:14759916:T:C	L757P	0.988
3:14761476:T:C	F786L	0.988

dbSNP variants (sampled 300 via entrez): RS1000017181 (3:14692785 A>G,T), RS1000040492 (3:14729757 G>C), RS1000140173 (3:14771160 C>T), RS1000170897 (3:14719131 T>TG), RS1000222197 (3:14744240 A>T), RS1000261625 (3:14771485 T>A,G), RS1000268661 (3:14761275 C>T), RS1000302508 (3:14694237 C>G,T), RS1000310346 (3:14734650 A>G,T), RS1000321093 (3:14692524 A>G), RS1000324625 (3:14725312 T>C), RS1000338174 (3:14748290 A>G), RS1000364037 (3:14682263 T>G), RS1000381781 (3:14772846 A>T), RS1000461257 (3:14762154 C>T)

Disease associations

OMIM: gene MIM:619992 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neuromyelitis optica	Limited	Autosomal dominant

Mondo (1): neuromyelitis optica (MONDO:0019100)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003501_7	Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time)	6.000000e-07
GCST012033_8	Sleep (1/3-day periodicity)	4.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001507	asparaginase-induced acute pancreatitis

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009471	Neuromyelitis Optica	C10.114.375.600.500; C10.114.375.800; C10.292.700.550.500; C10.314.350.600.500; C10.314.350.800; C11.640.576.695; C20.111.258.250.550.500; C20.111.258.250.775

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	3
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
abrine	increases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Atrazine	increases expression	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, decreases expression	1
Hydrogen Peroxide	affects cotreatment, increases expression	1
Methapyrilene	increases methylation	1
Theophylline	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	decreases methylation, increases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00304291	PHASE4	COMPLETED	A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease)
NCT02021825	PHASE4	UNKNOWN	Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders
NCT02809079	PHASE4	UNKNOWN	Mycophenolate Mofetil Treatment With Neuromyelitis Optica Spectrum Disorders in Chinese Patients
NCT04256252	PHASE4	COMPLETED	Rituximab at Low dosE for neuromyelitiS optiCa spectrUm disordEr (RESCUE)
NCT05269667	PHASE4	TERMINATED	A Study In Neuromyelitis Optica Spectrum Disorder (NMOSD) With Satralizumab As An Intervention
NCT06180278	PHASE4	ACTIVE_NOT_RECRUITING	Long-term, Open-label, Safety Study of Inebilizumab in Neuromyelitis Optica Spectrum Disorder (NMOSD)
NCT06212245	PHASE4	UNKNOWN	A Clinical Research Study of Inebilizumab in Neuromyelitis Optica Spectrum Disorders
NCT01892345	PHASE3	TERMINATED	A Randomized Controlled Trial of Eculizumab in AQP4 Antibody-positive Participants With NMO (PREVENT Study)
NCT02003144	PHASE3	COMPLETED	An Open Label Extension Trial of Eculizumab in Relapsing NMO Patients
NCT02028884	PHASE3	COMPLETED	Efficacy and Safety Study of Satralizumab (SA237) as Add-on Therapy to Treat Participants With Neuromyelitis Optica (NMO) and NMO Spectrum Disorder (NMOSD)
NCT02073279	PHASE3	COMPLETED	Efficacy and Safety Study of Satralizumab (SA237) as Monotherapy to Treat Participants With Neuromyelitis Optica (NMO) and Neuromyelitis Optica Spectrum Disorder (NMOSD)
NCT02398994	PHASE3	TERMINATED	A Multicentre randomiSed Controlled TRial of IntraVEnous Immunoglobulin Versus Standard Therapy for Transverse Myelitis
NCT03330418	PHASE3	TERMINATED	A Phase III Study of TACI-antibody Fusion Protein Injection (RC18) in Subjects With Neuromyelitis Optica Spectrum Disorders
NCT04201262	PHASE3	COMPLETED	An Efficacy and Safety Study of Ravulizumab in Adult Participants With NMOSD
NCT04660539	PHASE3	COMPLETED	A Study to Evaluate the Safety and Efficacy of Satralizumab in Participants With Neuromyelitis Optica Spectrum Disorder (NMOSD)
NCT05199688	PHASE3	RECRUITING	A Study To Evaluate Pharmacokinetics, Efficacy, Safety, Tolerability, And Pharmacodynamics Of Satralizumab In Pediatric Patients With Aquaporin-4 Antibody Positive Neuromyelitis Optica Spectrum Disorder (NMOSD)
NCT05314010	PHASE3	ACTIVE_NOT_RECRUITING	A Study of MIL62 in Patients With Neuromyelitis Optica Spectrum Disorder (NMOSD)
NCT05730699	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Divozilimab in Patients With Neuromyelitis Optica Spectrum Disorders (AQUARELLE)
NCT06724809	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy, Safety, PK, PD, and ADA of Eculizumab in Chinese Adults With NMOSD
NCT07132398	PHASE3	NOT_YET_RECRUITING	Slow vs. Rapid Glucocorticoids Tapering With Inebilizumab in NMOSD
NCT07557420	PHASE3	NOT_YET_RECRUITING	Efficacy, Safety, Pharmacokinetics, Pharmacodynamics, and Immunogenicity Study of Ravulizumab in Chinese Adults With Neuromyelitis Optica Spectrum Disorder (NMOSD)
NCT00716066	PHASE2	ACTIVE_NOT_RECRUITING	Autologous Stem Cell Transplant for Neurologic Autoimmune Diseases
NCT01845584	PHASE2	COMPLETED	Phase II Clinical Trial of NPB-01 in Patients With Anti-aquaporin 4 Antibody Positive Neuromyelitis Optica Spectrum Disorder Not Provided Adequate Effect of Therapy to Steroids Plus Therapy.
NCT02166346	PHASE2	COMPLETED	Safety and Efficacy of Sustained Release Dalfampridine in Transverse Myelitis (Re-Launch)
NCT02249676	PHASE2	COMPLETED	Autologous Mesenchymal Stem Cells for the Treatment of Neuromyelitis Optica Spectrum Disorders
NCT02893111	PHASE2	COMPLETED	Efficacy and Safety of Bortezomib as add-on Treatment in Relapsing Neuromyelitis Optica Spectrum Disorder
NCT04064944	PHASE2	UNKNOWN	Comparison of the Efficacy and Safety of Immunoadsorption and Plasma Exchange for Acute Attack of Refractory Neuromyelitis Optica Spectrum Disorders
NCT04614454	PHASE2	COMPLETED	High Frequency Impulse Therapy for Neuropathic Pain in NMOSD
NCT04670770	PHASE2	COMPLETED	An Open Label Study of the Effects of SHR1459 in NMOSDs Patients
NCT05356858	PHASE2	TERMINATED	An Open Label Study of the Effects and Safety of Zanubrutinib in NMOSDs Adult Patients
NCT05549258	PHASE2	RECRUITING	Study of Inebilizumab in Pediatric Subjects With Neuromyelitis Optica Spectrum Disorder
NCT05551598	PHASE2	COMPLETED	Efficacy and Safety of Mitoxantrone Hydrochloride Liposome Injection in the Treatment of Neuromyelitis Optica Spectrum Disorder (NMOSD)
NCT06497374	PHASE2	NOT_YET_RECRUITING	FcRn Antagonists (Efgartigimod) for Acute NMOSD Attack
NCT06697535	PHASE2	RECRUITING	A Study to Evaluate the Efficacy and Safety of JYP0061 in Patients With Acute Neuromyelitis Spectrum Disease (NMOSD)
NCT00501748	PHASE1	COMPLETED	Safety and Tolerability of Rituximab in Neuromyelitis Optica
NCT01759602	PHASE1	COMPLETED	C1-esterase Inhibitor (Cinryze) for Acute Treatment of Neuromyelitis Optica Exacerbation
NCT01777412	PHASE1	COMPLETED	Efficacy of Bevacizumab (Avastin) in Treatment of Acute NMO Exacerbations
NCT02087813	PHASE1	WITHDRAWN	Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica Relapses
NCT02276963	PHASE1	COMPLETED	Ublituximab for Acute Neuromyelitis Optica (NMO) Relapses
NCT02283671	PHASE1	COMPLETED	Treatment of Multiple Sclerosis and Neuromyelitis Optica With Regulatory Dendritic Cell: Clinical Trial Phase 1 B