FAM114A2

Summary

FAM114A2 (family with sequence similarity 114 member A2, HGNC:1333) is a protein-coding gene on chromosome 5q33.2, encoding Protein FAM114A2 (Q9NRY5).

Predicted to enable purine nucleotide binding activity.

Source: NCBI Gene 10827 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 102 total
• MANE Select transcript: NM_018691

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1333
Approved symbol	FAM114A2
Name	family with sequence similarity 114 member A2
Location	5q33.2
Locus type	gene with protein product
Status	Approved
Aliases	133K02
Ensembl gene	ENSG00000055147
Ensembl biotype	protein_coding
Entrez	10827

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 28 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000351797, ENST00000517605, ENST00000517803, ENST00000518102, ENST00000518735, ENST00000518900, ENST00000518914, ENST00000518946, ENST00000519808, ENST00000520313, ENST00000520667, ENST00000521031, ENST00000522395, ENST00000522634, ENST00000522858, ENST00000523705, ENST00000524246, ENST00000907992, ENST00000907993, ENST00000907994, ENST00000907995, ENST00000907996, ENST00000907997, ENST00000937548, ENST00000937549, ENST00000946804, ENST00000946805, ENST00000946806, ENST00000946807, ENST00000946808, ENST00000946809, ENST00000946810, ENST00000946811, ENST00000946812

RefSeq mRNA: 4 — MANE Select: NM_018691 NM_001317993, NM_001317994, NM_001317995, NM_018691

CCDS: CCDS4323, CCDS83036

Canonical transcript exons

ENST00000351797 — 14 exons

Exon	Start	End
ENSE00000768072	154027176	154027334
ENSE00001372734	154034744	154034967
ENSE00001920954	153990148	153993110
ENSE00002136254	154038857	154038910
ENSE00002432589	153997803	153997875
ENSE00002435823	154002847	154002969
ENSE00002462691	154011241	154011320
ENSE00002483555	154002251	154002390
ENSE00002527231	154026399	154026522
ENSE00003464445	153994919	153994972
ENSE00003522308	154033791	154033883
ENSE00003656813	154029489	154029580
ENSE00003787484	154028149	154028283
ENSE00003789681	154034278	154034377

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 93.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6410 / max 332.3969, expressed in 1795 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64451	12.6164	1795
64450	0.0246	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	93.23	gold quality
secondary oocyte	CL:0000655	90.54	gold quality
calcaneal tendon	UBERON:0003701	90.54	gold quality
sperm	CL:0000019	90.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.37	gold quality
choroid plexus epithelium	UBERON:0003911	89.31	gold quality
islet of Langerhans	UBERON:0000006	89.23	gold quality
body of pancreas	UBERON:0001150	89.16	gold quality
left testis	UBERON:0004533	88.77	gold quality
right testis	UBERON:0004534	88.70	gold quality
male germ cell	CL:0000015	88.41	gold quality
testis	UBERON:0000473	88.29	gold quality
pancreas	UBERON:0001264	88.22	gold quality
adrenal tissue	UBERON:0018303	87.86	gold quality
sural nerve	UBERON:0015488	87.66	gold quality
corpus epididymis	UBERON:0004359	86.66	gold quality
oocyte	CL:0000023	86.62	gold quality
muscle of leg	UBERON:0001383	86.17	gold quality
gastrocnemius	UBERON:0001388	86.09	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.79	gold quality
right atrium auricular region	UBERON:0006631	85.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.43	gold quality
right adrenal gland	UBERON:0001233	85.38	gold quality
heart left ventricle	UBERON:0002084	85.23	gold quality
tibia	UBERON:0000979	85.20	gold quality
right adrenal gland cortex	UBERON:0035827	85.19	gold quality
stromal cell of endometrium	CL:0002255	85.13	gold quality
cardiac ventricle	UBERON:0002082	84.97	gold quality
heart	UBERON:0000948	84.77	gold quality
tendon	UBERON:0000043	84.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

146 targeting FAM114A2, 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-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 1)

• miR-497 was down-regulated in squamous cell carcinoma tissues and cells, which can inhibit the expression of FAM114A2 and regulate tumor cell proliferation. (PMID:30468480)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam114a2	ENSDARG00000079508
mus_musculus	Fam114a2	ENSMUSG00000020523
rattus_norvegicus	Fam114a2	ENSRNOG00000002423
drosophila_melanogaster	CG9590	FBGN0038360

Paralogs (1): FAM114A1 (ENSG00000197712)

Protein

Protein identifiers

Protein FAM114A2 — Q9NRY5 (reviewed: Q9NRY5)

All UniProt accessions (10): A0A140VKG4, E5RFK2, E5RGF9, E5RH43, E5RHI8, E5RHP2, E5RIK7, E5RK42, E7ESJ7, Q9NRY5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM114 family.

RefSeq proteins (4): NP_001304922, NP_001304923, NP_001304924, NP_061161* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007998	DUF719	Family

Pfam: PF05334

UniProt features (10 total): modified residue 3, region of interest 2, sequence conflict 2, chain 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRY5-F1	66.67	0.35

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 (3): 87, 146, 209

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6802952	Signaling by BRAF and RAF1 fusions

MSigDB gene sets: 109 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, BRUINS_UVC_RESPONSE_LATE, VANOEVELEN_MYOGENESIS_SIN3A_TARGETS, REACTOME_DISEASES_OF_SIGNAL_TRANSDUCTION_BY_GROWTH_FACTOR_RECEPTORS_AND_SECOND_MESSENGERS, REACTOME_ONCOGENIC_MAPK_SIGNALING, BARX1_TARGET_GENES, DIDO1_TARGET_GENES, E2F2_TARGET_GENES, FOXG1_TARGET_GENES, HOXA10_TARGET_GENES, HOXB4_TARGET_GENES, HOXC13_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): purine nucleotide binding (GO:0017076), protein binding (GO:0005515)

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Oncogenic MAPK signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleotide binding	1
binding	1

Protein interactions and networks

STRING

614 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM114A2	MFAP3	P55082	575
FAM114A2	OR1N1	Q8NGS0	476
FAM114A2	RPL9	P32969	411
FAM114A2	LMNTD1	Q8N9Z9	411
FAM114A2	CFAP77	Q6ZQR2	399
FAM114A2	SSMEM1	Q8WWF3	397
FAM114A2	MFSD6	Q6ZSS7	396
FAM114A2	OR1B1	Q8NGR6	379
FAM114A2	OR4D1	Q15615	378
FAM114A2	OR1Q1	Q15612	373
FAM114A2	GPR22	Q99680	370
FAM114A2	SLC35A4	Q96G79	370
FAM114A2	ZNF146	Q15072	369
FAM114A2	MTURN	Q8N3F0	358
FAM114A2	LIAS	O43766	351
FAM114A2	TMEM156	Q8N614	351

IntAct

97 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
TBRG4	FAM114A2	psi-mi:“MI:0915”(physical association)	0.600
FAM114A2	TBRG4	psi-mi:“MI:0915”(physical association)	0.600
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
NDUFV2	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
PTPN9	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
RAB2B	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
PILRA	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
FAM114A2	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.560
GAD2	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
MIEF2	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
TTPA	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
RAB2A	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
KIR3DL1	FAM114A2	psi-mi:“MI:0915”(physical association)	0.560
KIR3DL2	METTL15	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
TMEM51	WWP2	psi-mi:“MI:0914”(association)	0.530
CPNE5	RAD21	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
FAM114A2	CAMKV	psi-mi:“MI:0915”(physical association)	0.400
Dync1li1	SSR3	psi-mi:“MI:0914”(association)	0.350
M	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (112): FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Proximity Label-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS), FAM114A2 (Affinity Capture-MS)

ESM2 similar proteins: A0JMW6, A0JNJ3, A1D3P4, A1L2I9, A9SV59, A9SY65, B0XPV4, F4JNX2, O02161, O14244, O48832, O64823, O82067, P0DO24, P91928, Q0V3D6, Q1E4N0, Q1PE15, Q2UBI2, Q499U8, Q4WJ38, Q5R987, Q63ZZ0, Q84K90, Q8LF20, Q8N0X7, Q8R1X6, Q8S8F8, Q8S9J8, Q8VCR3, Q8VE88, Q91WU4, Q9ASY8, Q9FGS8, Q9FJV7, Q9FYF7, Q9LVR5, Q9LYV6, Q9M122, Q9M9G7

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

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	7	9.4×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
immune response-regulating signaling pathway	5	25.3×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2678 predictions. Top by Δscore:

Variant	Effect	Δscore
5:153993120:T:C	acceptor_gain	1.0000
5:153993120:T:TC	acceptor_gain	1.0000
5:153994915:TAA:T	donor_loss	1.0000
5:153994916:AACCT:A	donor_loss	1.0000
5:153994917:ACC:A	donor_loss	1.0000
5:153994918:CCTC:C	donor_loss	1.0000
5:153997801:AC:A	donor_gain	1.0000
5:153997801:ACC:A	donor_gain	1.0000
5:153997802:CC:C	donor_gain	1.0000
5:153997802:CCC:C	donor_gain	1.0000
5:154002244:CA:C	donor_gain	1.0000
5:154002249:A:AC	donor_gain	1.0000
5:154002250:C:CC	donor_gain	1.0000
5:154002250:CT:C	donor_gain	1.0000
5:154002250:CTG:C	donor_gain	1.0000
5:154002287:T:TA	donor_gain	1.0000
5:154002294:T:TA	donor_gain	1.0000
5:154002887:T:TA	donor_gain	1.0000
5:154026393:TATTA:T	donor_loss	1.0000
5:154026395:TTACC:T	donor_loss	1.0000
5:154026396:TACC:T	donor_loss	1.0000
5:154026397:ACCTT:A	donor_loss	1.0000
5:154026518:TTCAC:T	acceptor_gain	1.0000
5:154026519:TCAC:T	acceptor_gain	1.0000
5:154026520:CAC:C	acceptor_gain	1.0000
5:154026520:CACC:C	acceptor_gain	1.0000
5:154026521:ACCT:A	acceptor_loss	1.0000
5:154026523:C:CC	acceptor_gain	1.0000
5:154026524:T:C	acceptor_loss	1.0000
5:154026527:A:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000000867 (5:153995558 A>C), RS1000095433 (5:154023956 T>C), RS1000181360 (5:154025700 T>C), RS1000220564 (5:154025083 T>A,C), RS1000250312 (5:154021029 G>A), RS1000295052 (5:154037560 G>A), RS1000340141 (5:154017964 T>A,C), RS1000355018 (5:154008117 G>A), RS1000411913 (5:154037435 T>C), RS1000462634 (5:154032639 C>A), RS1000473449 (5:154000155 G>A), RS1000493909 (5:154032930 G>C), RS1000498273 (5:154029577 T>A), RS1000567270 (5:154030854 C>A,G,T), RS1000599658 (5:154036430 A>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

8 associations (top):

Study	Trait	p-value
GCST006804_9	Red cell distribution width	4.000000e-10
GCST009391_1346	Metabolite levels	8.000000e-06
GCST009391_1363	Metabolite levels	4.000000e-06
GCST009391_1484	Metabolite levels	8.000000e-06
GCST009391_1955	Metabolite levels	9.000000e-06
GCST009391_296	Metabolite levels	7.000000e-06
GCST010241_46	Apolipoprotein A1 levels	4.000000e-15
GCST90002404_219	Red cell distribution width	5.000000e-20

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width
EFO:0010362	lysophosphatidylcholine 20:3 measurement
EFO:0010366	lysophosphatidylethanolamine 16:0 measurement
EFO:0010414	triacylglycerol 52:2 measurement
EFO:0010423	triacylglycerol 54:5 measurement
EFO:0010425	triacylglycerol 54:7 measurement
EFO:0004614	apolipoprotein A 1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
bisphenol F	increases expression, affects cotreatment	2
sodium arsenite	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenate	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Potassium Dichromate	increases expression	1
Thiram	decreases expression	1

Clinical trials (associated diseases)

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