FAM24A

Summary

FAM24A (family with sequence similarity 24 member A, HGNC:23470) is a protein-coding gene on chromosome 10q26.13, encoding Protein FAM24A (A6NFZ4).

Predicted to be located in extracellular region.

Source: NCBI Gene 118670 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001029888

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23470
Approved symbol	FAM24A
Name	family with sequence similarity 24 member A
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Aliases	AC073585.4
Ensembl gene	ENSG00000203795
Ensembl biotype	protein_coding
Entrez	118670

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000368894

RefSeq mRNA: 1 — MANE Select: NM_001029888 NM_001029888

CCDS: CCDS31304

Canonical transcript exons

ENST00000368894 — 3 exons

Exon	Start	End
ENSE00001448220	122912762	122913111
ENSE00001448221	122911633	122911759
ENSE00001448222	122910610	122910819

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 88.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0136 / max 11.1667, expressed in 3 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
107469	0.0063	3
206021	0.0050	3
107468	0.0022	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	88.71	gold quality
left testis	UBERON:0004533	82.30	gold quality
right testis	UBERON:0004534	80.97	gold quality
testis	UBERON:0000473	79.46	gold quality
adult organism	UBERON:0007023	68.77	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
epithelial cell of pancreas	CL:0000083	53.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	51.11	silver quality
myocardium	UBERON:0002349	50.25	gold quality
tibialis anterior	UBERON:0001385	48.39	silver quality
pancreatic ductal cell	CL:0002079	48.07	silver quality
deltoid	UBERON:0001476	47.48	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
quadriceps femoris	UBERON:0001377	46.36	gold quality
vastus lateralis	UBERON:0001379	45.40	gold quality
ileal mucosa	UBERON:0000331	45.37	silver quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
sural nerve	UBERON:0015488	43.11	silver quality
lower lobe of lung	UBERON:0008949	43.04	silver quality
secondary oocyte	CL:0000655	42.57	gold quality
muscle tissue	UBERON:0002385	41.56	gold quality
skeletal muscle tissue	UBERON:0001134	41.53	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
cortical plate	UBERON:0005343	41.09	gold quality
oviduct epithelium	UBERON:0004804	41.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting FAM24A, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-892C-5P	99.16	70.56	2116
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-5585-5P	97.95	68.80	1024
HSA-MIR-517-5P	97.13	68.43	781
HSA-MIR-6847-3P	96.50	67.30	582

Cross-species orthologs

0 orthologs

Paralogs (1): FAM24B (ENSG00000213185)

Protein

Protein identifiers

Protein FAM24A — A6NFZ4 (reviewed: A6NFZ4)

All UniProt accessions (1): A6NFZ4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the FAM24 family.

RefSeq proteins (1): NP_001025059* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028122	FAM24	Family

Pfam: PF15193

UniProt features (2 total): signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NFZ4-F1	65.02	0.26

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_129_MOUSE_UP, GSE14386_UNTREATED_VS_IFNA_TREATED_ACT_PBMC_MS_PATIENT_UP, MIR4482_3P, MIR32_5P, MIR92A_3P, MIR92B_3P, MIR141_3P, MIR200A_3P, MIR367_3P, MIR363_3P, MIR25_3P, MIR633, GSE11864_UNTREATED_VS_CSF1_IN_MAC_UP, MIR5585_5P, MIR6847_3P

GO Biological Process (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

88 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM24A	IQCF6	A8MYZ5	612
FAM24A	PRR30	Q53SZ7	574
FAM24A	CPXCR1	Q8N123	572
FAM24A	RNF148	Q8N7C7	545
FAM24A	GAREM2	Q75VX8	511
FAM24A	TVP23A	A6NH52	507
FAM24A	DPY19L1	Q2PZI1	431
FAM24A	TTC9B	Q8N6N2	294
FAM24A	CAPN10	Q9HC96	270
FAM24A	TRIP13	Q15645	249
FAM24A	ELAVL2	Q12926	247
FAM24A	NT5C1B	Q96P26	243
FAM24A	SLC25A47	Q6Q0C1	235
FAM24A	TGFB1I1	O43294	231
FAM24A	TSSK3	Q96PN8	222
FAM24A	ACTL7B	Q9Y614	222

IntAct

0 interactions, top by confidence:

BioGRID (1): FAM24A (Negative Genetic)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

298 predictions. Top by Δscore:

Variant	Effect	Δscore
10:122912760:A:G	acceptor_gain	0.9900
10:122911713:C:G	donor_gain	0.9800
10:122912761:G:C	acceptor_gain	0.9700
10:122911709:GCTCC:G	donor_gain	0.9600
10:122911713:C:CG	donor_gain	0.9500
10:122912761:G:GG	acceptor_gain	0.9500
10:122912757:TTAAG:T	acceptor_gain	0.9400
10:122910817:GTA:G	donor_gain	0.9300
10:122910820:G:GG	donor_gain	0.9200
10:122912761:GA:G	acceptor_gain	0.8800
10:122910815:CTGTA:C	donor_gain	0.8700
10:122912758:TAAG:T	acceptor_gain	0.8700
10:122912759:AAGA:A	acceptor_gain	0.8700
10:122911760:G:GG	donor_gain	0.8600
10:122912760:AG:A	acceptor_gain	0.8600
10:122912761:GAGCT:G	acceptor_gain	0.8600
10:122912759:A:AG	acceptor_gain	0.8500
10:122910818:TA:T	donor_gain	0.8200
10:122911747:C:G	donor_gain	0.8000
10:122910816:TGTA:T	donor_gain	0.7600
10:122910817:GTAG:G	donor_gain	0.7600
10:122910818:TAGT:T	donor_gain	0.7600
10:122910819:AGTA:A	donor_gain	0.7600
10:122911710:C:CG	donor_gain	0.7400
10:122911752:GCAC:G	donor_gain	0.7400
10:122911720:T:TA	donor_gain	0.7200
10:122910819:AG:A	donor_loss	0.6900
10:122910820:GT:G	donor_loss	0.6900
10:122910821:T:TC	donor_loss	0.6900
10:122910822:AAGT:A	donor_loss	0.6900

AlphaMissense

702 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:122911686:A:C	S18R	0.990
10:122911688:C:A	S18R	0.990
10:122911688:C:G	S18R	0.990
10:122911683:A:C	S17R	0.983
10:122911685:C:A	S17R	0.983
10:122911685:C:G	S17R	0.983
10:122911681:G:A	G16E	0.960
10:122911716:A:C	S28R	0.959
10:122911718:T:A	S28R	0.959
10:122911718:T:G	S28R	0.959
10:122911680:G:A	G16R	0.958
10:122911680:G:C	G16R	0.958
10:122911674:G:C	G14R	0.955
10:122911675:G:A	G14D	0.950
10:122911705:T:A	M24K	0.945
10:122911705:T:G	M24R	0.945
10:122911699:C:A	A22D	0.942
10:122911711:T:A	L26H	0.933
10:122911647:T:C	F5L	0.927
10:122911649:T:A	F5L	0.927
10:122911649:T:G	F5L	0.927
10:122911696:T:A	V21D	0.926
10:122911693:T:G	L20R	0.914
10:122911711:T:G	L26R	0.911
10:122911711:T:C	L26P	0.894
10:122911734:T:G	Y34D	0.880
10:122911702:C:A	A23E	0.876
10:122911693:T:A	L20Q	0.874
10:122911701:G:C	A23P	0.871
10:122911678:T:A	I15N	0.870

dbSNP variants (sampled 300 via entrez): RS1000461453 (10:122909086 T>G), RS1001369865 (10:122911047 G>A), RS1002142913 (10:122910921 T>C), RS1003149398 (10:122909427 G>A), RS1003467661 (10:122913096 G>A,T), RS1004373752 (10:122913215 G>A), RS1004728808 (10:122912897 G>A,T), RS1004881518 (10:122909970 C>A,T), RS1005913099 (10:122911956 T>C), RS1006762174 (10:122908689 C>T), RS1007699699 (10:122912372 T>G), RS1007716176 (10:122909922 G>C), RS1008072739 (10:122909496 G>A), RS1008151218 (10:122908842 G>A,T), RS1008181829 (10:122910509 A>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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