FAM24B

Summary

FAM24B (family with sequence similarity 24 member B, HGNC:23475) is a protein-coding gene on chromosome 10q26.13, encoding Protein FAM24B (Q8N5W8).

Predicted to be located in extracellular region.

Source: NCBI Gene 196792 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 16 total
• MANE Select transcript: NM_152644

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23475
Approved symbol	FAM24B
Name	family with sequence similarity 24 member B
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Aliases	MGC45962, AC073585.2
Ensembl gene	ENSG00000213185
Ensembl biotype	protein_coding
Entrez	196792

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 14 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000368896, ENST00000368898, ENST00000462859, ENST00000489000, ENST00000868557, ENST00000868558, ENST00000868559, ENST00000868560, ENST00000937046, ENST00000937047, ENST00000937048, ENST00000937049, ENST00000937050, ENST00000937051, ENST00000937052, ENST00000950087

RefSeq mRNA: 2 — MANE Select: NM_152644 NM_001204364, NM_152644

CCDS: CCDS31303

Canonical transcript exons

ENST00000368898 — 4 exons

Exon	Start	End
ENSE00001448231	122850424	122850550
ENSE00001828607	122849078	122849439
ENSE00001946910	122879485	122879581
ENSE00003625540	122855645	122855786

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 91.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.2599 / max 97.9453, expressed in 1413 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111769	5.0679	1407
206020	0.1682	60
111770	0.0239	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	91.17	gold quality
secondary oocyte	CL:0000655	90.58	gold quality
sperm	CL:0000019	90.30	gold quality
body of pancreas	UBERON:0001150	88.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.84	gold quality
pancreas	UBERON:0001264	83.82	gold quality
pituitary gland	UBERON:0000007	83.81	gold quality
adenohypophysis	UBERON:0002196	83.80	gold quality
kidney epithelium	UBERON:0004819	82.66	silver quality
adult mammalian kidney	UBERON:0000082	81.89	gold quality
granulocyte	CL:0000094	81.19	gold quality
metanephros cortex	UBERON:0010533	81.04	gold quality
left testis	UBERON:0004533	81.02	gold quality
right testis	UBERON:0004534	80.80	gold quality
mucosa of transverse colon	UBERON:0004991	80.45	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.38	gold quality
epithelial cell of pancreas	CL:0000083	79.86	gold quality
testis	UBERON:0000473	79.75	gold quality
upper arm skin	UBERON:0004263	79.32	gold quality
monocyte	CL:0000576	78.90	gold quality
leukocyte	CL:0000738	78.80	gold quality
spinal cord	UBERON:0002240	78.35	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.35	gold quality
cortex of kidney	UBERON:0001225	78.29	gold quality
rectum	UBERON:0001052	78.28	gold quality
spleen	UBERON:0002106	77.98	gold quality
ganglionic eminence	UBERON:0004023	77.98	gold quality
islet of Langerhans	UBERON:0000006	77.95	gold quality
cerebellar hemisphere	UBERON:0002245	77.46	gold quality
lymph node	UBERON:0000029	77.45	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting FAM24B, 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-196A-1-3P	99.99	72.15	2772
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-216A-5P	99.50	68.02	1288
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-1285-5P	98.01	68.71	779
HSA-MIR-6847-3P	96.50	67.30	582
HSA-MIR-4704-5P	96.13	68.67	608

Cross-species orthologs

0 orthologs

Paralogs (1): FAM24A (ENSG00000203795)

Protein

Protein identifiers

Protein FAM24B — Q8N5W8 (reviewed: Q8N5W8)

All UniProt accessions (1): Q8N5W8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the FAM24 family.

RefSeq proteins (2): NP_001191293, NP_689857* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028122	FAM24	Family

Pfam: PF15193

UniProt features (3 total): signal peptide 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5W8-F1	64.09	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 28 (showing top): NPAT_TARGET_GENES, ZBTB12_TARGET_GENES, ZNF391_TARGET_GENES, ZNF592_TARGET_GENES, MIR548L, GSE10463_CD40L_AND_VA347_VS_CD40L_IN_DC_DN, MIR1285_5P, MIR6847_3P, STAT4_01, GAO_LARGE_INTESTINE_ADULT_CJ_IMMUNE_CELLS, HOXA1_TARGET_GENES, ZNF549_TARGET_GENES, PCGF6_TARGET_GENES, NOTCH3_TARGET_GENES, OVSYANNIKOVA_PBMC_FLUARIX_AGE_55_64YO_RESPONDERS_VS_NONRESPONDERS_0DY_UP

GO Biological Process (0):

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

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM24B	RWDD2B	P57060	570
FAM24B	ZBED8L	Q8TCP9	506
FAM24B	TDRD15	B5MCY1	439
FAM24B	CCNI2	Q6ZMN8	433
FAM24B	ZNF525	Q8N782	418
FAM24B	ZNF572	Q7Z3I7	404
FAM24B	HLA-DQB2	P05538	400
FAM24B	C10orf88	Q9H8K7	380
FAM24B	DNAH2	Q9P225	379
FAM24B	KRTCAP3	Q53RY4	359
FAM24B	NXPH2	O95156	353
FAM24B	KATNIP	O60303	349
FAM24B	MCMDC2	Q4G0Z9	349
FAM24B	CELA2B	P08218	348
FAM24B	PTGR3	Q8N4Q0	336
FAM24B	C9JR48	C9JR48	336

IntAct

8 interactions, top by confidence:

A	B	Type	Score
CLRN1	FAM24B	psi-mi:“MI:0915”(physical association)	0.560
LEUTX	FAM24B	psi-mi:“MI:0915”(physical association)	0.560
FAM24B	SHTN1	psi-mi:“MI:0914”(association)	0.350
FAM24B	CLRN1	psi-mi:“MI:0915”(physical association)	0.000
FAM24B	LEUTX	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (57): FAM24B (Two-hybrid), LEUTX (Two-hybrid), NME2 (Affinity Capture-MS), TES (Affinity Capture-MS), FEN1 (Affinity Capture-MS), TRIM25 (Affinity Capture-MS), IL18 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), ITGB4 (Affinity Capture-MS), PLEC (Affinity Capture-MS), VAMP3 (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS), CAPG (Affinity Capture-MS), RBP1 (Affinity Capture-MS), ZNF622 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GQX3, A0A1B0GRQ0, A0A1B0GV90, A4D0T7, A4QNL6, A6NFZ4, A9RA88, B0CMA4, B3DHH5, C0HJJ0, C1PGW0, D3YUK8, F2Z3Y9, F5HFG3, G1TZA0, G2TRP0, O13001, O14068, O39920, P0DKX4, P34535, P57054, P61807, P61808, Q06FW7, Q19443, Q3E8L0, Q3E912, Q3T0S0, Q4V921, Q54L98, Q5F3W2, Q5R687, Q5RBD8, Q5U4Q2, Q66J27, Q6PQZ3, Q80UA9, Q80ZU4, Q8AUU1

Diamond homologs: A6NFZ4, B1WBS9, Q8CF27, Q8N5W8, Q9DAL9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1355 predictions. Top by Δscore:

Variant	Effect	Δscore
10:122850422:A:AC	donor_gain	1.0000
10:122850423:C:CC	donor_gain	1.0000
10:122879480:CCTA:C	donor_loss	1.0000
10:122879481:CTA:C	donor_loss	1.0000
10:122879482:TA:T	donor_loss	1.0000
10:122849441:T:C	acceptor_gain	0.9900
10:122855787:C:CC	acceptor_gain	0.9900
10:122879483:A:AC	donor_gain	0.9900
10:122879484:C:CC	donor_gain	0.9900
10:122879484:CCTGA:C	donor_gain	0.9900
10:122849439:TCTTG:T	acceptor_gain	0.9800
10:122849440:C:CC	acceptor_gain	0.9800
10:122849440:C:G	acceptor_gain	0.9800
10:122849441:T:TC	acceptor_gain	0.9800
10:122850387:A:AC	donor_gain	0.9800
10:122850388:C:CC	donor_gain	0.9800
10:122851266:A:T	acceptor_gain	0.9800
10:122849438:CT:C	acceptor_gain	0.9700
10:122849438:CTCT:C	acceptor_gain	0.9700
10:122850655:AGAT:A	donor_gain	0.9700
10:122858686:C:CC	acceptor_gain	0.9700
10:122850658:T:TA	donor_gain	0.9600
10:122855784:CAA:C	acceptor_gain	0.9600
10:122858685:ACTGG:A	acceptor_gain	0.9600
10:122849435:CAGCT:C	acceptor_gain	0.9500
10:122858683:GAACT:G	acceptor_gain	0.9500
10:122851267:G:GC	acceptor_gain	0.9400
10:122858684:AACTG:A	acceptor_gain	0.9400
10:122879064:T:TA	donor_gain	0.9400
10:122850496:C:CT	donor_gain	0.9300

AlphaMissense

612 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:122850497:C:G	G7R	0.804
10:122850500:C:G	G6R	0.730
10:122850496:C:T	G7D	0.719
10:122849251:A:T	L94H	0.704
10:122850499:C:T	G6D	0.699
10:122849255:C:G	G93R	0.693
10:122850484:G:T	A11D	0.677
10:122850478:A:C	L13R	0.674
10:122849251:A:G	L94P	0.654
10:122850478:A:T	L13H	0.651
10:122850460:A:T	V19E	0.639
10:122850469:A:T	I16K	0.635
10:122850441:T:A	K25N	0.631
10:122850441:T:G	K25N	0.631
10:122850472:A:C	L15R	0.627
10:122850466:A:T	V17D	0.620
10:122850487:G:T	A10E	0.617
10:122850502:G:T	A5D	0.615
10:122850493:A:G	I8T	0.610
10:122850431:C:G	A29P	0.607
10:122850475:A:C	L14R	0.607
10:122849292:A:C	F80L	0.594
10:122849292:A:T	F80L	0.594
10:122849294:A:G	F80L	0.594
10:122850463:A:T	V18D	0.593
10:122850439:A:T	I26K	0.591
10:122850444:G:C	F24L	0.591
10:122850444:G:T	F24L	0.591
10:122850446:A:G	F24L	0.591
10:122850505:A:T	I4N	0.579

dbSNP variants (sampled 300 via entrez): RS1000095560 (10:122848592 C>G), RS1000127218 (10:122850849 G>A,T), RS1000154764 (10:122870367 G>A), RS1000207777 (10:122879948 C>G,T), RS1000268125 (10:122857116 C>A,T), RS1000276702 (10:122875697 A>G), RS1000288035 (10:122875894 G>A), RS1000292755 (10:122854880 T>C), RS1000346724 (10:122879314 A>G), RS1000364221 (10:122873008 A>G), RS1000369814 (10:122861611 T>C), RS1000379178 (10:122864792 A>G), RS1000715789 (10:122872833 G>A), RS1000737796 (10:122852446 A>C,G), RS1000870170 (10:122858672 G>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

1 associations (top):

Study	Trait	p-value
GCST008502_10	Low susceptibility to hepatitis C infection	8.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010101	decreased susceptibility to hepatitis C infection

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
entinostat	increases expression, affects cotreatment	2
Tunicamycin	increases expression	2
Thapsigargin	increases expression	2
Particulate Matter	increases abundance, increases expression	2
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Silicon Dioxide	increases expression	1
Valproic Acid	decreases methylation, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Asbestos, Crocidolite	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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