FAM184A

Summary

FAM184A (family with sequence similarity 184 member A, HGNC:20991) is a protein-coding gene on chromosome 6q22.31, encoding Protein FAM184A (Q8NB25).

Located in several cellular components, including P-body; cytosol; and microtubule organizing center.

Source: NCBI Gene 79632 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 176 total
• MANE Select transcript: NM_024581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20991
Approved symbol	FAM184A
Name	family with sequence similarity 184 member A
Location	6q22.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13942
Ensembl gene	ENSG00000111879
Ensembl biotype	protein_coding
Entrez	79632

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000338891, ENST00000352896, ENST00000368472, ENST00000368475, ENST00000448815, ENST00000475529, ENST00000481884, ENST00000482219, ENST00000517987, ENST00000521043, ENST00000521531, ENST00000522284, ENST00000617072, ENST00000621231

RefSeq mRNA: 3 — MANE Select: NM_024581 NM_001100411, NM_001288576, NM_024581

CCDS: CCDS43499, CCDS43500, CCDS75508

Canonical transcript exons

ENST00000338891 — 18 exons

Exon	Start	End
ENSE00002094886	118966835	118966952
ENSE00002106384	118964667	118964771
ENSE00002112598	119078141	119078664
ENSE00002115099	118961761	118961963
ENSE00002119469	118974428	118974574
ENSE00002137709	118959763	118960184
ENSE00002138046	118975024	118975208
ENSE00002225962	119022945	119023080
ENSE00002251225	119011309	119011431
ENSE00002255677	118979365	118979518
ENSE00002279516	119002899	119003049
ENSE00002285904	119016747	119016944
ENSE00002298360	118975917	118976044
ENSE00002308078	118980138	118980350
ENSE00002308197	119019978	119020159
ENSE00002321294	119003501	119003622
ENSE00002323800	119006447	119006608
ENSE00003529269	119023959	119024813

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 90.75.

FANTOM5 (CAGE): breadth broad, TPM avg 2.8797 / max 71.7681, expressed in 661 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75311	1.6291	541
75314	0.5027	305
75313	0.4028	218
75312	0.3193	207
204178	0.0258	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
caudate nucleus	UBERON:0001873	90.75	gold quality
adenohypophysis	UBERON:0002196	90.61	gold quality
nucleus accumbens	UBERON:0001882	90.53	gold quality
amygdala	UBERON:0001876	89.95	gold quality
anterior cingulate cortex	UBERON:0009835	89.95	gold quality
cingulate cortex	UBERON:0003027	89.85	gold quality
putamen	UBERON:0001874	89.57	gold quality
ventricular zone	UBERON:0003053	89.52	gold quality
right frontal lobe	UBERON:0002810	89.46	gold quality
cerebellar hemisphere	UBERON:0002245	89.17	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.17	gold quality
cerebellar cortex	UBERON:0002129	89.06	gold quality
pituitary gland	UBERON:0000007	88.91	gold quality
right testis	UBERON:0004534	88.85	gold quality
left testis	UBERON:0004533	88.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.76	gold quality
cortical plate	UBERON:0005343	88.09	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.81	gold quality
cerebellum	UBERON:0002037	87.52	gold quality
testis	UBERON:0000473	87.36	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.31	gold quality
left lobe of thyroid gland	UBERON:0001120	87.20	gold quality
right lobe of thyroid gland	UBERON:0001119	86.88	gold quality
telencephalon	UBERON:0001893	86.30	gold quality
forebrain	UBERON:0001890	86.27	gold quality
thyroid gland	UBERON:0002046	86.26	gold quality
secondary oocyte	CL:0000655	85.78	gold quality
brain	UBERON:0000955	85.75	gold quality
neocortex	UBERON:0001950	85.72	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	195.46
E-CURD-119	yes	46.09
E-ANND-3	yes	18.25
E-MTAB-9543	no	1.22

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

44 targeting FAM184A, 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-8485	100.00	77.57	4731
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-4306	99.72	70.50	3630

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam184aa	ENSDARG00000002635
danio_rerio	fam184ab	ENSDARG00000014081
mus_musculus	Fam184a	ENSMUSG00000019856
rattus_norvegicus	Fam184a	ENSRNOG00000026407

Paralogs (1): FAM184B (ENSG00000047662)

Protein

Protein identifiers

Protein FAM184A — Q8NB25 (reviewed: Q8NB25)

All UniProt accessions (11): Q8NB25, A0A087X2A7, A0A0C4DGZ2, B9DI78, E7EQ67, H0Y672, H0YBA5, H0YBC0, H0YBE3, H0YBZ6, H7BY63

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. P-body. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite.

Similarity. Belongs to the FAM184 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8NB25-1	1	yes
Q8NB25-2	2
Q8NB25-3	3
Q8NB25-4	4

RefSeq proteins (3): NP_001093881, NP_001275505, NP_078857* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039478	FAM184A/B_N	Domain

Pfam: PF15665

UniProt features (18 total): sequence conflict 5, splice variant 5, sequence variant 3, coiled-coil region 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NB25-F1	74.71	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 107 (showing top): AP1_01, GOCC_MICROTUBULE_ORGANIZING_CENTER, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, AP1_Q4_01, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOCC_CENTROSOME, TGANTCA_AP1_C, NFE2_01, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOCC_CENTRIOLAR_SATELLITE, chr6q22, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3

GO Biological Process (0):

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

GO Cellular Component (7): P-body (GO:0000932), obsolete extracellular space (GO:0005615), cytosol (GO:0005829), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	1
cytoplasmic ribonucleoprotein granule	1
cytoplasm	1
centrosome	1
microtubule organizing center	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

481 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM184A	SHISAL1	Q3SXP7	543
FAM184A	OR5H1	A6NKK0	432
FAM184A	ZNF155	Q12901	403
FAM184A	PRR20A	P86496	400
FAM184A	ZNF688	P0C7X2	372
FAM184A	PHGR1	C9JFL3	358
FAM184A	FAM124A	Q86V42	348
FAM184A	CAMTA2	O94983	348
FAM184A	SPDYC	Q5MJ68	348
FAM184A	ERICH6	Q7L0X2	336
FAM184A	HECTD2	Q5U5R9	336
FAM184A	SEC14L5	O43304	324
FAM184A	CCDC178	Q5BJE1	324
FAM184A	FHIP2A	Q5W0V3	324
FAM184A	FAM167B	Q9BTA0	323

IntAct

37 interactions, top by confidence:

A	B	Type	Score
FAM184A	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
FAM184A	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
FAM184A	GSN	psi-mi:“MI:0915”(physical association)	0.560
FAM184A	HRAS	psi-mi:“MI:0915”(physical association)	0.560
FAM184A	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530
FAM184A	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
FAM184A	KTN1	psi-mi:“MI:0915”(physical association)	0.400
FAM184A	SMARCA2	psi-mi:“MI:0915”(physical association)	0.400
BRAP	FAM184A	psi-mi:“MI:0915”(physical association)	0.370
	FAM184A	psi-mi:“MI:0915”(physical association)	0.370
PYCARD	MYO1C	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CUL4B	APBB1	psi-mi:“MI:0914”(association)	0.350
RYBP	PIPSL	psi-mi:“MI:0914”(association)	0.350
RYBP	FAM186A	psi-mi:“MI:0914”(association)	0.350
WHAMMP3	EXOC5	psi-mi:“MI:0914”(association)	0.350
BORCS6	UQCRQ	psi-mi:“MI:0914”(association)	0.350
LRRC61	INPPL1	psi-mi:“MI:0914”(association)	0.350
PLEKHO2	MAP3K6	psi-mi:“MI:0914”(association)	0.350
DNAJC27	METAP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (90): FAM184A (Two-hybrid), FAM184A (Two-hybrid), FAM184A (Two-hybrid), BRCA1 (Two-hybrid), FAM184A (Affinity Capture-MS), FAM184A (Biochemical Activity), FAM184A (Affinity Capture-MS), FAM184A (Two-hybrid), FAM184A (Affinity Capture-MS), FAM184A (Affinity Capture-MS), FAM184A (Reconstituted Complex), FAM184A (Reconstituted Complex), FAM184A (Protein-RNA), FAM184A (Proximity Label-MS), FAM184A (Proximity Label-MS)

ESM2 similar proteins: D3ZZL9, E9Q1U1, F4I9A2, O75330, O97961, P49454, P61430, P97779, Q00547, Q03410, Q0VBY1, Q13439, Q14789, Q15075, Q15643, Q28628, Q4R7H3, Q53EZ4, Q5M7B7, Q5RI56, Q5T9S5, Q60563, Q61595, Q62209, Q640L5, Q6TFL3, Q70FJ1, Q7FAD5, Q861Q8, Q86UP2, Q8BL66, Q8CDI7, Q8CHG3, Q8HYY4, Q8IWJ2, Q8NB25, Q8NCX0, Q8R5M4, Q90631, Q90Z16

Diamond homologs: Q0KK56, Q8NB25, Q9ULE4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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.

GO biological processes:

GO term	Partners	Fold	FDR
endocytosis	5	15.9×	6e-03
chromatin remodeling	5	12.2×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	149
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3978 predictions. Top by Δscore:

Variant	Effect	Δscore
6:118960193:A:C	acceptor_gain	1.0000
6:118961964:C:CC	acceptor_gain	1.0000
6:118964774:A:C	acceptor_gain	1.0000
6:118966831:TTAC:T	donor_loss	1.0000
6:118966833:A:AC	donor_gain	1.0000
6:118966833:AC:A	donor_loss	1.0000
6:118966834:C:CC	donor_gain	1.0000
6:118966834:CA:C	donor_gain	1.0000
6:118966834:CAA:C	donor_gain	1.0000
6:118966834:CAAT:C	donor_gain	1.0000
6:118966834:CAATT:C	donor_gain	1.0000
6:118966948:CTAAT:C	acceptor_gain	1.0000
6:118966950:AATCT:A	acceptor_loss	1.0000
6:118966951:AT:A	acceptor_gain	1.0000
6:118966951:ATC:A	acceptor_loss	1.0000
6:118966952:TC:T	acceptor_loss	1.0000
6:118966953:C:CC	acceptor_gain	1.0000
6:118966954:T:A	acceptor_loss	1.0000
6:118974426:A:AC	donor_gain	1.0000
6:118974427:C:CA	donor_gain	1.0000
6:118974427:CG:C	donor_gain	1.0000
6:118974427:CGA:C	donor_gain	1.0000
6:118974427:CGACA:C	donor_gain	1.0000
6:118974449:ATTT:A	donor_gain	1.0000
6:118974452:T:A	donor_gain	1.0000
6:118975028:T:C	donor_gain	1.0000
6:118975204:TTACT:T	acceptor_gain	1.0000
6:118975205:TACT:T	acceptor_gain	1.0000
6:118975207:CT:C	acceptor_gain	1.0000
6:118975207:CTCTG:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000004854 (6:119082878 G>A), RS1000008361 (6:119011383 T>C), RS1000008554 (6:119076742 A>C,G), RS1000008574 (6:118990531 C>A), RS1000009042 (6:119054326 A>T), RS1000059564 (6:119077021 T>C), RS1000071432 (6:118989370 T>A,C), RS1000079260 (6:118989774 G>A), RS1000103991 (6:119032512 G>A), RS1000133645 (6:119144206 C>G,T), RS1000139530 (6:119102304 C>G), RS1000155585 (6:119101278 G>T), RS1000161431 (6:118970162 C>T), RS1000174576 (6:119034110 T>A), RS1000209576 (6:118962048 A>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

10 associations (top):

Study	Trait	p-value
GCST004735_32	Epstein-Barr virus copy number in lymphoblastoid cell lines	7.000000e-06
GCST007201_67	Schizophrenia	2.000000e-07
GCST009391_2079	Metabolite levels	8.000000e-06
GCST009391_93	Metabolite levels	1.000000e-06
GCST009391_980	Metabolite levels	5.000000e-06
GCST010796_2714	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_2715	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_2716	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST011038_6	Parkinson’s disease progression (motor)	5.000000e-06
GCST011039_4	Parkinson’s disease progression (composite)	3.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0010372	phosphatidylcholine 32:0 measurement
EFO:0010473	cyclic adenosine monophosphate measurement
EFO:0010538	taurocholate measurement
EFO:0004327	electrocardiography
EFO:0008336	disease progression measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
trichostatin A	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Aldehydes	increases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases expression, decreases methylation	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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