FAM114A1

Summary

FAM114A1 (family with sequence similarity 114 member A1, HGNC:25087) is a protein-coding gene on chromosome 4p14, encoding Protein NOXP20 (Q8IWE2). May play a role in neuronal cell development.

The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 92689 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_138389

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25087
Approved symbol	FAM114A1
Name	family with sequence similarity 114 member A1
Location	4p14
Locus type	gene with protein product
Status	Approved
Aliases	Noxp20
Ensembl gene	ENSG00000197712
Ensembl biotype	protein_coding
Entrez	92689

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000358869, ENST00000508737, ENST00000510213, ENST00000512889, ENST00000513966, ENST00000515037, ENST00000903773, ENST00000903774, ENST00000967133, ENST00000967134, ENST00000967135

RefSeq mRNA: 8 — MANE Select: NM_138389 NM_001330764, NM_001350631, NM_001350632, NM_001350633, NM_001350634, NM_001375792, NM_001375793, NM_138389

CCDS: CCDS3447, CCDS82916

Canonical transcript exons

ENST00000358869 — 15 exons

Exon	Start	End
ENSE00001077154	38878071	38878426
ENSE00001077156	38908592	38908726
ENSE00001077168	38929242	38929333
ENSE00001171626	38914921	38915073
ENSE00001243925	38943456	38945739
ENSE00001432576	38868398	38868546
ENSE00001782721	38867806	38867834
ENSE00003502798	38932235	38932374
ENSE00003526500	38905755	38905861
ENSE00003539025	38940968	38941021
ENSE00003608035	38891743	38891830
ENSE00003638043	38905522	38905635
ENSE00003639453	38931451	38931612
ENSE00003655627	38922770	38922893
ENSE00003678762	38935718	38935790

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 98.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.7090 / max 576.1547, expressed in 1684 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47352	22.7657	1652
47351	3.6561	1163
47350	3.1418	1261
47355	0.1455	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.66	gold quality
calcaneal tendon	UBERON:0003701	98.17	gold quality
tibia	UBERON:0000979	98.06	gold quality
stromal cell of endometrium	CL:0002255	97.90	gold quality
tendon of biceps brachii	UBERON:0008188	97.80	gold quality
tendon	UBERON:0000043	97.44	gold quality
adrenal tissue	UBERON:0018303	96.37	gold quality
synovial joint	UBERON:0002217	96.32	gold quality
smooth muscle tissue	UBERON:0001135	96.02	gold quality
skin of hip	UBERON:0001554	95.63	gold quality
saphenous vein	UBERON:0007318	95.35	gold quality
sural nerve	UBERON:0015488	95.25	gold quality
cervix squamous epithelium	UBERON:0006922	95.00	gold quality
cartilage tissue	UBERON:0002418	94.89	gold quality
urethra	UBERON:0000057	94.81	gold quality
palpebral conjunctiva	UBERON:0001812	94.58	gold quality
right adrenal gland cortex	UBERON:0035827	94.55	gold quality
parietal pleura	UBERON:0002400	94.47	gold quality
periodontal ligament	UBERON:0008266	94.45	gold quality
mammalian vulva	UBERON:0000997	94.43	gold quality
gall bladder	UBERON:0002110	94.33	gold quality
saliva-secreting gland	UBERON:0001044	94.26	gold quality
hair follicle	UBERON:0002073	94.25	gold quality
rectum	UBERON:0001052	94.20	gold quality
pleura	UBERON:0000977	94.13	gold quality
upper leg skin	UBERON:0004262	94.05	gold quality
adrenal gland	UBERON:0002369	93.94	gold quality
urinary bladder	UBERON:0001255	93.84	gold quality
adrenal cortex	UBERON:0001235	93.82	gold quality
right adrenal gland	UBERON:0001233	93.76	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	46.29
E-ANND-3	yes	20.88
E-MTAB-5061	yes	10.91
E-HCAD-11	yes	7.31
E-GEOD-81383	no	485.45
E-MTAB-6678	no	3.74
E-CURD-112	no	2.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting FAM114A1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-2681-5P	99.75	67.64	1655

Literature-anchored findings (GeneRIF, showing 2)

• This paper discusses the structure of the human Noxp20 gene. (PMID:17029606)
• Study annotated variants at 4p14 as expression quantitative trait loci (eQTL) associated with TLR6/10 and FAM114A1; findings suggest that 4p14 polymorphisms are linked to host immune response to H. pylori infection but not to its acquisition. (PMID:26312625)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam114a1	ENSDARG00000008287
mus_musculus	Fam114a1	ENSMUSG00000029185
rattus_norvegicus	Fam114a1l1	ENSRNOG00000002110
rattus_norvegicus	Fam114a1	ENSRNOG00000026504
drosophila_melanogaster	CG9590	FBGN0038360

Paralogs (1): FAM114A2 (ENSG00000055147)

Protein

Protein identifiers

Protein NOXP20 — Q8IWE2 (reviewed: Q8IWE2)

Alternative names: Nervous system overexpressed protein 20, Protein FAM114A1

All UniProt accessions (2): D6R9C9, Q8IWE2

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in neuronal cell development.

Subcellular location. Cytoplasm.

Similarity. Belongs to the FAM114 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IWE2-1	1	yes
Q8IWE2-2	2

RefSeq proteins (8): NP_001317693, NP_001337560, NP_001337561, NP_001337562, NP_001337563, NP_001362721, NP_001362722, NP_612398* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007998	DUF719	Family

Pfam: PF05334

UniProt features (22 total): modified residue 7, sequence variant 7, region of interest 3, compositionally biased region 2, chain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWE2-F1	64.49	0.33

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 (7): 196, 199, 202, 261, 120, 185, 189

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 166 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_INFLAMMATORY_RESPONSE, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOZGIT_ESR1_TARGETS_DN, GOBP_RESPONSE_TO_ANGIOTENSIN, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, MODULE_205, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_HORMONE, HIF1_Q3

GO Biological Process (9): heart valve morphogenesis (GO:0003179), inflammatory response (GO:0006954), gene expression (GO:0010467), fibroblast migration (GO:0010761), angiotensin-activated signaling pathway (GO:0038166), fibroblast proliferation (GO:0048144), fibroblast activation (GO:0072537), connective tissue replacement (GO:0097709), tissue remodeling (GO:0048771)

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

GO Cellular Component (4): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
heart valve development	1
anatomical structure morphogenesis	1
defense response	1
macromolecule biosynthetic process	1
ameboidal-type cell migration	1
G protein-coupled receptor signaling pathway	1
cellular response to angiotensin	1
cell population proliferation	1
cell activation	1
tissue remodeling	1
multicellular organismal process	1
binding	1
nuclear lumen	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM114A1	UNC119B	A6NIH7	433
FAM114A1	POSTN	Q15063	383
FAM114A1	ROCK2	O75116	381
FAM114A1	HEATR4	Q86WZ0	348
FAM114A1	SPMIP7	A4D263	338
FAM114A1	DPY19L4	Q7Z388	324
FAM114A1	THAP3	Q8WTV1	322
FAM114A1	KLHDC8A	Q8IYD2	302
FAM114A1	TMEM71	Q6P5X7	301
FAM114A1	CLCC1	Q96S66	298
FAM114A1	TRIM16L	Q309B1	298
FAM114A1	SIRAL2	Q9NWS6	290
FAM114A1	URB2	Q14146	290
FAM114A1	RETREG3	Q86VR2	290
FAM114A1	LRRC75B	Q2VPJ9	290

IntAct

50 interactions, top by confidence:

A	B	Type	Score
RAB2A	FAM114A1	psi-mi:“MI:0915”(physical association)	0.780
FAM114A1	RAB2B	psi-mi:“MI:0915”(physical association)	0.780
SPG21	FAM114A1	psi-mi:“MI:0915”(physical association)	0.780
RAB2B	FAM114A1	psi-mi:“MI:0915”(physical association)	0.780
FAM114A1	SPG21	psi-mi:“MI:0915”(physical association)	0.780
AGTRAP	FAM114A1	psi-mi:“MI:0915”(physical association)	0.560
FAM114A1	CMTM5	psi-mi:“MI:0915”(physical association)	0.560
FAM114A1	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
CMTM5	FAM114A1	psi-mi:“MI:0915”(physical association)	0.560
FAM114A1	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
FAM114A1	TNFRSF10D	psi-mi:“MI:0915”(physical association)	0.560
	TK2	psi-mi:“MI:0915”(physical association)	0.400
TNS2	FAM114A1	psi-mi:“MI:0915”(physical association)	0.370
IHO1	FAM114A1	psi-mi:“MI:0914”(association)	0.350
RAB2B	SLC27A2	psi-mi:“MI:0914”(association)	0.350
KIR2DL1	SLC27A4	psi-mi:“MI:0914”(association)	0.350
AZU1	UBA6	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (38): FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), CMTM5 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Affinity Capture-RNA), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Two-hybrid), FAM114A1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNJ3, A0M8T5, A4IG66, F1Q930, F7AEX0, O00750, O15327, O48832, O94876, P35612, P97578, Q00PJ1, Q05764, Q07E15, Q07E28, Q09YG9, Q0P4J3, Q155Q3, Q1JPG0, Q2QLA2, Q2T9N1, Q2TBG9, Q2VUH7, Q3ZC62, Q4R4D7, Q4V8E4, Q5BJ78, Q5BLE2, Q5JTW2, Q5R5V7, Q5RA60, Q5T1M5, Q69ZZ6, Q6GR21, Q6INU2, Q6IP02, Q6NTW1, Q8BG50, Q8C5W4, Q8C6E0

Diamond homologs: Q2T9N1, Q8IWE2, Q8VE88, Q9D281, Q9NRY5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2660 predictions. Top by Δscore:

Variant	Effect	Δscore
4:38891827:GTAG:G	donor_gain	1.0000
4:38905511:A:AG	acceptor_gain	1.0000
4:38905512:T:G	acceptor_gain	1.0000
4:38905517:A:AG	acceptor_gain	1.0000
4:38905519:CAGG:C	acceptor_loss	1.0000
4:38905520:A:AG	acceptor_gain	1.0000
4:38905520:AGG:A	acceptor_loss	1.0000
4:38905521:G:GA	acceptor_gain	1.0000
4:38905521:GGT:G	acceptor_gain	1.0000
4:38905521:GGTC:G	acceptor_gain	1.0000
4:38905521:GGTCA:G	acceptor_gain	1.0000
4:38905631:TGAAA:T	donor_gain	1.0000
4:38905632:GAAA:G	donor_gain	1.0000
4:38905632:GAAAG:G	donor_gain	1.0000
4:38905633:A:T	donor_gain	1.0000
4:38905633:AAA:A	donor_gain	1.0000
4:38905634:AA:A	donor_gain	1.0000
4:38905634:AAG:A	donor_loss	1.0000
4:38905635:AG:A	donor_loss	1.0000
4:38905636:GTGA:G	donor_gain	1.0000
4:38905637:T:G	donor_loss	1.0000
4:38905640:G:GG	donor_gain	1.0000
4:38908589:CA:C	acceptor_loss	1.0000
4:38908590:A:AT	acceptor_loss	1.0000
4:38908590:AG:A	acceptor_gain	1.0000
4:38908591:GG:G	acceptor_gain	1.0000
4:38914916:TGCA:T	acceptor_loss	1.0000
4:38914917:GCA:G	acceptor_loss	1.0000
4:38914919:A:AG	acceptor_gain	1.0000
4:38914920:G:GG	acceptor_gain	1.0000

AlphaMissense

3670 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:38908626:T:C	L231S	0.999
4:38908635:T:A	I234N	0.999
4:38908638:G:A	G235D	0.999
4:38914925:T:C	L266S	0.999
4:38914933:G:C	A269P	0.999
4:38905851:T:A	V216D	0.998
4:38908602:T:A	V223D	0.998
4:38908659:T:A	L242H	0.998
4:38908661:G:C	A243P	0.998
4:38908680:T:C	F249S	0.998
4:38915020:G:C	G298R	0.998
4:38915033:T:C	L302P	0.998
4:38915042:T:C	L305P	0.998
4:38932303:A:C	K464N	0.998
4:38932303:A:T	K464N	0.998
4:38943465:A:C	S534R	0.998
4:38943467:T:A	S534R	0.998
4:38943467:T:G	S534R	0.998
4:38915038:G:C	A304P	0.997
4:38932281:G:C	R457P	0.997
4:38908617:T:A	L228H	0.996
4:38908693:G:C	K253N	0.996
4:38908693:G:T	K253N	0.996
4:38908719:T:C	L262S	0.996
4:38915021:G:A	G298D	0.996
4:38932277:G:C	A456P	0.996
4:38932296:T:C	L462P	0.996
4:38908622:G:C	A230P	0.995
4:38908637:G:C	G235R	0.995
4:38908680:T:G	F249C	0.995

dbSNP variants (sampled 300 via entrez): RS10000037 (4:38922709 G>A,C), RS1000020656 (4:38946183 C>T), RS1000109459 (4:38936074 T>C), RS1000110010 (4:38870625 T>G), RS1000188939 (4:38899884 C>T), RS1000209455 (4:38939551 A>T), RS10002651 (4:38923142 G>A,T), RS1000278140 (4:38900932 A>G), RS10002940 (4:38923508 G>A), RS1000309316 (4:38900682 G>A), RS1000359301 (4:38933046 T>C), RS1000362279 (4:38893935 G>A), RS1000372896 (4:38877259 T>C), RS1000548899 (4:38928786 T>G), RS1000552794 (4:38912043 T>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

9 associations (top):

Study	Trait	p-value
GCST002014_1	Helicobacter pylori serologic status	1.000000e-18
GCST002084_3	Allergic sensitization	5.000000e-11
GCST004602_146	Mean corpuscular volume	5.000000e-11
GCST004711_44	Alcohol dependence	6.000000e-06
GCST004967_6	Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event)	7.000000e-09
GCST007563_4	Allergic disease (asthma, hay fever or eczema)	7.000000e-20
GCST007564_38	Asthma or allergic disease (pleiotropy)	2.000000e-19
GCST009798_22	Asthma	4.000000e-17
GCST90002396_268	Mean reticulocyte volume	1.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005298	allergic sensitization measurement
EFO:0007835	alcohol dependence measurement
EFO:0008395	response to darapladib
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	9
sodium arsenite	affects expression, increases expression	2
entinostat	affects cotreatment, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
torcetrapib	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases methylation	1
(+)-JQ1 compound	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1

Clinical trials (associated diseases)

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