FAM184B

Summary

FAM184B (family with sequence similarity 184 member B, HGNC:29235) is a protein-coding gene on chromosome 4p15.32-p15.31, encoding Protein FAM184B (Q9ULE4).

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 180 total
• MANE Select transcript: NM_015688

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29235
Approved symbol	FAM184B
Name	family with sequence similarity 184 member B
Location	4p15.32-p15.31
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1276
Ensembl gene	ENSG00000047662
Ensembl biotype	protein_coding
OMIM	619945
Entrez	27146

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000265018, ENST00000954035

RefSeq mRNA: 1 — MANE Select: NM_015688 NM_015688

CCDS: CCDS47033

Canonical transcript exons

ENST00000265018 — 18 exons

Exon	Start	End
ENSE00000706631	17642056	17642228
ENSE00000706643	17705000	17705206
ENSE00000706646	17705752	17705891
ENSE00000706650	17707649	17707784
ENSE00000706657	17708892	17709644
ENSE00000799259	17633689	17633888
ENSE00000799260	17635009	17635113
ENSE00000799261	17636528	17636645
ENSE00000799262	17639250	17639396
ENSE00000799263	17647637	17647791
ENSE00000799264	17652830	17652983
ENSE00000799265	17658350	17658562
ENSE00000799266	17659958	17660087
ENSE00000799267	17664562	17664659
ENSE00000799268	17688424	17688531
ENSE00000799269	17693302	17693412
ENSE00001130944	17781159	17781621
ENSE00001214526	17629306	17632625

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 92.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1926 / max 54.2742, expressed in 64 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51538	0.1381	47
51537	0.0545	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	92.34	gold quality
buccal mucosa cell	CL:0002336	89.08	gold quality
oocyte	CL:0000023	88.83	gold quality
corpus epididymis	UBERON:0004359	86.63	gold quality
caput epididymis	UBERON:0004358	85.21	gold quality
cauda epididymis	UBERON:0004360	81.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.72	gold quality
ventricular zone	UBERON:0003053	80.51	gold quality
tibialis anterior	UBERON:0001385	77.31	silver quality
cortical plate	UBERON:0005343	73.94	gold quality
medial globus pallidus	UBERON:0002477	73.66	gold quality
tendon of biceps brachii	UBERON:0008188	72.85	gold quality
hindlimb stylopod muscle	UBERON:0004252	71.94	gold quality
ganglionic eminence	UBERON:0004023	71.53	gold quality
skeletal muscle tissue	UBERON:0001134	71.34	gold quality
globus pallidus	UBERON:0001875	71.02	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	70.61	silver quality
deltoid	UBERON:0001476	70.35	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	69.04	silver quality
vastus lateralis	UBERON:0001379	67.84	silver quality
biceps brachii	UBERON:0001507	67.84	silver quality
oviduct epithelium	UBERON:0004804	67.40	gold quality
muscle tissue	UBERON:0002385	67.14	gold quality
postcentral gyrus	UBERON:0002581	65.62	gold quality
muscle of leg	UBERON:0001383	65.37	gold quality
gastrocnemius	UBERON:0001388	65.16	gold quality
prefrontal cortex	UBERON:0000451	64.39	gold quality
Brodmann (1909) area 46	UBERON:0006483	64.14	gold quality
parietal lobe	UBERON:0001872	63.81	gold quality
nucleus accumbens	UBERON:0001882	63.41	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting FAM184B, 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-6778-3P	99.96	67.29	2693
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-9903	98.47	66.70	748
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-92A-1-5P	98.28	64.51	631
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-3690	96.44	65.18	737

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam184b	ENSDARG00000055099
mus_musculus	Fam184b	ENSMUSG00000015879
rattus_norvegicus	Fam184b	ENSRNOG00000003704

Paralogs (1): FAM184A (ENSG00000111879)

Protein

Protein identifiers

Protein FAM184B — Q9ULE4 (reviewed: Q9ULE4)

All UniProt accessions (1): Q9ULE4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM184 family.

RefSeq proteins (1): NP_056503* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039478	FAM184A/B_N	Domain

Pfam: PF15665

UniProt features (23 total): region of interest 6, compositionally biased region 6, coiled-coil region 5, sequence conflict 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULE4-F1	75.02	0.51

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): chr4p15, TAYLOR_METHYLATED_IN_ACUTE_LYMPHOBLASTIC_LEUKEMIA, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE10240_CTRL_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_DN, SRPK2_TARGET_GENES, MIR6778_3P, GSE7568_CTRL_VS_3H_TGFB_TREATED_MACROPHAGES_WITH_IL4_AND_DEXAMETHASONE_UP, GSE17721_CTRL_VS_LPS_12H_BMDC_DN, GSE17721_CTRL_VS_GARDIQUIMOD_2H_BMDC_DN, GSE17721_CTRL_VS_GARDIQUIMOD_6H_BMDC_DN, GSE17721_POLYIC_VS_PAM3CSK4_8H_BMDC_DN, DESCARTES_MAIN_FETAL_RETINAL_PROGENITORS_AND_MULLER_GLIA, GSE17721_LPS_VS_GARDIQUIMOD_4H_BMDC_DN, GSE17721_0.5H_VS_4H_PAM3CSK4_BMDC_DN, GSE17721_0.5H_VS_8H_PAM3CSK4_BMDC_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM184B	LCORL	Q8N3X6	776
FAM184B	DCAF16	Q9NXF7	757
FAM184B	NCAPG	Q9BPX3	747
FAM184B	MED28	Q9H204	592
FAM184B	PACRGL	Q8N7B6	524
FAM184B	MEPE	Q9NQ76	453
FAM184B	CCDC87	Q9NVE4	451
FAM184B	PHF24	Q9UPV7	444
FAM184B	FAM13A	O94988	444
FAM184B	LAP3	P28838	442
FAM184B	MAB21L3	Q8N8X9	433
FAM184B	SPTY2D1	Q68D10	427
FAM184B	PLEKHG7	Q6ZR37	415
FAM184B	WDR93	Q6P2C0	411
FAM184B	UBXN2B	Q14CS0	400

IntAct

4 interactions, top by confidence:

A	B	Type	Score
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
FHIP1B	MED19	psi-mi:“MI:2364”(proximity)	0.270
DISC1	FAM184B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): FAM184B (Affinity Capture-MS), FAM184B (Affinity Capture-MS), FAM184B (Affinity Capture-MS), FAM184B (Proximity Label-MS), FAM184B (Proximity Label-MS), FAM184B (Affinity Capture-MS), HSP90B1 (Cross-Linking-MS (XL-MS)), FAM184B (Cross-Linking-MS (XL-MS)), FAM184B (Cross-Linking-MS (XL-MS)), FAM184B (Affinity Capture-MS), FAM184B (Cross-Linking-MS (XL-MS)), FAM184B (Proximity Label-MS), FAM184B (Affinity Capture-MS), FAM184B (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: Q0KK56, Q9ULE4, Q8NB25

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	154
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3044 predictions. Top by Δscore:

Variant	Effect	Δscore
4:17633887:TT:T	acceptor_gain	1.0000
4:17633889:C:A	acceptor_loss	1.0000
4:17633889:C:CC	acceptor_gain	1.0000
4:17633913:G:C	acceptor_gain	1.0000
4:17639244:A:AC	donor_gain	1.0000
4:17639245:C:CC	donor_gain	1.0000
4:17639245:CTTA:C	donor_gain	1.0000
4:17639246:TTA:T	donor_loss	1.0000
4:17639247:TACTC:T	donor_loss	1.0000
4:17639248:A:AC	donor_gain	1.0000
4:17639248:A:C	donor_loss	1.0000
4:17639248:ACT:A	donor_gain	1.0000
4:17639249:C:CA	donor_gain	1.0000
4:17639249:CT:C	donor_gain	1.0000
4:17639249:CTC:C	donor_gain	1.0000
4:17639249:CTCG:C	donor_gain	1.0000
4:17639249:CTCGG:C	donor_gain	1.0000
4:17642053:CA:C	donor_loss	1.0000
4:17642055:C:CT	donor_loss	1.0000
4:17647632:CTGA:C	donor_loss	1.0000
4:17647633:TGAC:T	donor_loss	1.0000
4:17647634:GA:G	donor_loss	1.0000
4:17647636:C:CG	donor_loss	1.0000
4:17647636:CCT:C	donor_gain	1.0000
4:17647788:GACT:G	acceptor_gain	1.0000
4:17647790:CT:C	acceptor_gain	1.0000
4:17647792:C:CC	acceptor_gain	1.0000
4:17647793:T:A	acceptor_loss	1.0000
4:17652833:G:C	donor_gain	1.0000
4:17652850:G:A	donor_gain	1.0000

AlphaMissense

6971 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:17633850:G:C	S976R	0.996
4:17633850:G:T	S976R	0.996
4:17633852:T:G	S976R	0.996
4:17781166:A:G	L45P	0.993
4:17632535:G:C	F1060L	0.992
4:17632535:G:T	F1060L	0.992
4:17632537:A:G	F1060L	0.992
4:17632541:A:C	F1058L	0.992
4:17632541:A:T	F1058L	0.992
4:17632543:A:G	F1058L	0.992
4:17632558:A:G	W1053R	0.992
4:17632558:A:T	W1053R	0.992
4:17633845:G:T	P978Q	0.989
4:17635051:G:C	F949L	0.989
4:17635051:G:T	F949L	0.989
4:17635053:A:G	F949L	0.989
4:17708959:A:G	L276P	0.989
4:17636532:A:G	L927P	0.987
4:17632546:A:G	Y1057H	0.986
4:17708929:A:G	L286P	0.986
4:17709124:A:G	L221P	0.986
4:17709178:A:G	L203P	0.986
4:17632546:A:C	Y1057D	0.985
4:17632556:C:A	W1053C	0.985
4:17632556:C:G	W1053C	0.985
4:17633846:G:A	P978S	0.985
4:17633846:G:T	P978T	0.985
4:17709321:C:A	K155N	0.985
4:17709321:C:G	K155N	0.985
4:17709325:A:G	L154P	0.985

dbSNP variants (sampled 300 via entrez): RS1000006007 (4:17759420 C>G,T), RS1000028460 (4:17676033 C>A,G,T), RS1000035359 (4:17681612 G>A,C), RS1000038647 (4:17759758 A>T), RS1000097798 (4:17728104 C>T), RS1000117444 (4:17648096 T>G), RS1000146908 (4:17774351 G>A), RS1000153825 (4:17717111 C>G), RS1000211621 (4:17668216 C>A), RS1000241861 (4:17765129 T>G), RS1000260500 (4:17720914 G>A,T), RS1000262715 (4:17630621 G>A), RS1000275768 (4:17668790 C>T), RS1000278309 (4:17711434 C>T), RS1000284407 (4:17772404 G>A,T)

Disease associations

OMIM: gene MIM:619945 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002702_42	Height	2.000000e-40
GCST008163_262	Height	9.000000e-07
GCST008163_322	Height	7.000000e-11
GCST012227_1018	Hip circumference adjusted for BMI	5.000000e-11
GCST012227_1019	Hip circumference adjusted for BMI	3.000000e-10
GCST012227_1020	Hip circumference adjusted for BMI	2.000000e-19
GCST90002400_424	Plateletcrit	1.000000e-09
GCST90002402_679	Platelet count	6.000000e-12
GCST90020028_1960	Hip circumference adjusted for BMI	4.000000e-13
GCST90020028_1961	Hip circumference adjusted for BMI	2.000000e-09
GCST90020028_1962	Hip circumference adjusted for BMI	3.000000e-13
GCST90020028_1963	Hip circumference adjusted for BMI	3.000000e-21

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0007985	platelet crit
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases methylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
butyraldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation, increases methylation	1
Leflunomide	decreases expression	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Lead	decreases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, decreases expression, affects response to substance	1
Nickel	decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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