FAM180A

Summary

FAM180A (family with sequence similarity 180 member A, HGNC:33773) is a protein-coding gene on chromosome 7q33, encoding Protein FAM180A (Q6UWF9).

Predicted to be located in extracellular region.

Source: NCBI Gene 389558 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_205855

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33773
Approved symbol	FAM180A
Name	family with sequence similarity 180 member A
Location	7q33
Locus type	gene with protein product
Status	Approved
Aliases	HWKM1940, UNQ1940
Ensembl gene	ENSG00000189320
Ensembl biotype	protein_coding
Entrez	389558

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000338588, ENST00000415751, ENST00000435869, ENST00000444083

RefSeq mRNA: 2 — MANE Select: NM_205855 NM_001369697, NM_205855

CCDS: CCDS5841

Canonical transcript exons

ENST00000338588 — 4 exons

Exon	Start	End
ENSE00001379291	135733646	135734319
ENSE00002232864	135729592	135730281
ENSE00003709228	135737099	135737199
ENSE00003896026	135748505	135748813

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 91.65.

FANTOM5 (CAGE): breadth broad, TPM avg 4.0520 / max 193.9056, expressed in 452 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
86371	3.6926	445
86370	0.3594	205

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ascending aorta	UBERON:0001496	91.65	gold quality
thoracic aorta	UBERON:0001515	91.18	gold quality
descending thoracic aorta	UBERON:0002345	88.65	gold quality
gall bladder	UBERON:0002110	84.11	gold quality
stromal cell of endometrium	CL:0002255	84.00	gold quality
right coronary artery	UBERON:0001625	82.22	gold quality
apex of heart	UBERON:0002098	79.78	gold quality
popliteal artery	UBERON:0002250	78.49	gold quality
tibial artery	UBERON:0007610	78.46	gold quality
right lobe of liver	UBERON:0001114	78.34	gold quality
left coronary artery	UBERON:0001626	78.03	gold quality
metanephros cortex	UBERON:0010533	77.95	gold quality
heart left ventricle	UBERON:0002084	77.86	gold quality
liver	UBERON:0002107	77.82	gold quality
calcaneal tendon	UBERON:0003701	77.44	gold quality
skin of leg	UBERON:0001511	74.48	gold quality
zone of skin	UBERON:0000014	73.64	gold quality
smooth muscle tissue	UBERON:0001135	73.64	gold quality
heart	UBERON:0000948	73.46	gold quality
skin of abdomen	UBERON:0001416	72.72	gold quality
body of uterus	UBERON:0009853	71.14	gold quality
subcutaneous adipose tissue	UBERON:0002190	71.06	gold quality
adipose tissue	UBERON:0001013	71.02	gold quality
omental fat pad	UBERON:0010414	70.98	gold quality
thoracic mammary gland	UBERON:0005200	69.67	gold quality
adult mammalian kidney	UBERON:0000082	69.41	gold quality
uterine cervix	UBERON:0000002	69.23	gold quality
colonic epithelium	UBERON:0000397	68.81	gold quality
endocervix	UBERON:0000458	68.53	gold quality
left adrenal gland cortex	UBERON:0035825	68.32	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.80
E-GEOD-124858	no	134.00
E-MTAB-6142	no	0.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting FAM180A, 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-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-4761-5P	99.51	66.69	804

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	FAM180A	ENSDARG00000103102
mus_musculus	Fam180a	ENSMUSG00000047420
rattus_norvegicus	Fam180a	ENSRNOG00000011750

Paralogs (1): FAM180B (ENSG00000196666)

Protein

Protein identifiers

Protein FAM180A — Q6UWF9 (reviewed: Q6UWF9)

All UniProt accessions (1): Q6UWF9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the FAM180 family.

RefSeq proteins (2): NP_001356626, NP_995327* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029170	FAM180	Family

Pfam: PF15173

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-Q6UWF9-F1	86.67	0.64

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 35 (showing top): BACH2_01, TGANTCA_AP1_C, FOX_Q2, WGTTNNNNNAAA_UNKNOWN, AR_Q6, RP58_01, MIR95_5P, MIR4694_3P, MIR3180_5P, MIR766_5P, MIR202_3P, MIR5706, MIR2681_5P, MIR1236_5P, MIR6514_5P

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

288 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM180A	PI15	O43692	566
FAM180A	SLC25A29	Q8N8R3	518
FAM180A	ANKS1A	Q92625	514
FAM180A	COL28A1	Q2UY09	510
FAM180A	GCC2	Q8IWJ2	505
FAM180A	KLHL35	Q6PF15	486
FAM180A	GLT6D1	Q7Z4J2	479
FAM180A	TCP11	Q8WWU5	473
FAM180A	FANCE	Q9HB96	448
FAM180A	C17orf67	Q0P5P2	437
FAM180A	DENND10	Q8TCE6	436
FAM180A	ANGPTL5	Q86XS5	420
FAM180A	LUZP6	Q538Z0	418
FAM180A	NCMAP	Q5T1S8	400
FAM180A	STMP1	E0CX11	398

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTR0, A0A1B0GTY4, A0A1B0GVD1, A7WNB0, A8R0V4, E9Q7F5, O55779, O70552, O75818, O93036, P01586, P03212, P03319, P03321, P04823, P0DOE0, P10260, P13206, P16837, P20880, P28907, P36340, P47939, P47940, Q02484, Q03233, Q1HVF6, Q2HRD2, Q3KSS3, Q3TTJ4, Q5BK38, Q5QR91, Q5VAN0, Q64277, Q66669, Q66672, Q6GQU0, Q6GVM5, Q6UWF9, Q86WR6

Diamond homologs: Q6P0A1, Q6UWF9, Q8BR21

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

345 predictions. Top by Δscore:

Variant	Effect	Δscore
7:135734338:G:C	acceptor_gain	1.0000
7:135737096:TA:T	donor_loss	1.0000
7:135737097:A:AC	donor_gain	1.0000
7:135737098:C:CC	donor_gain	1.0000
7:135737098:C:CT	donor_loss	1.0000
7:135737098:CCT:C	donor_gain	1.0000
7:135737195:CACAG:C	acceptor_gain	1.0000
7:135737196:ACAG:A	acceptor_gain	1.0000
7:135737197:CAG:C	acceptor_gain	1.0000
7:135737197:CAGC:C	acceptor_gain	1.0000
7:135737198:AG:A	acceptor_gain	1.0000
7:135737199:GC:G	acceptor_loss	1.0000
7:135737200:C:CC	acceptor_gain	1.0000
7:135737200:C:CG	acceptor_loss	1.0000
7:135733988:C:CA	donor_gain	0.9900
7:135734121:T:A	donor_gain	0.9900
7:135734320:C:CC	acceptor_gain	0.9900
7:135734330:A:AC	acceptor_gain	0.9900
7:135734330:A:C	acceptor_gain	0.9900
7:135734332:G:C	acceptor_gain	0.9900
7:135734338:G:GC	acceptor_gain	0.9900
7:135737118:T:TA	donor_gain	0.9900
7:135737198:A:T	acceptor_gain	0.9900
7:135748500:CTCA:C	donor_loss	0.9900
7:135748501:TCA:T	donor_loss	0.9900
7:135748503:A:AC	donor_gain	0.9900
7:135748503:AC:A	donor_gain	0.9900
7:135748503:ACC:A	donor_gain	0.9900
7:135748504:C:CC	donor_gain	0.9900
7:135748504:CC:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000052751 (7:135748642 T>C), RS1000068627 (7:135744056 A>G), RS1000182555 (7:135745301 A>G), RS1000188586 (7:135748273 C>A), RS1000439721 (7:135743121 C>A,T), RS1000476453 (7:135750563 C>G), RS1000657501 (7:135745001 C>A), RS1001050780 (7:135740555 A>G), RS1001063231 (7:135731091 A>G), RS1001328413 (7:135734237 G>A), RS1001535293 (7:135730609 T>A,C), RS1001596937 (7:135750244 A>G), RS1001676862 (7:135750039 T>G), RS1002253000 (7:135730242 G>A), RS1002282633 (7:135745743 G>GA)

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

5 associations (top):

Study	Trait	p-value
GCST001762_508	Obesity-related traits	3.000000e-06
GCST002126_20	Periodontitis (CDC/AAP)	2.000000e-07
GCST002938_15	Copper levels	2.000000e-06
GCST004860_4	Alcoholic chronic pancreatitis	6.000000e-06
GCST009391_1444	Metabolite levels	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010409	triacylglycerol 50:2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression	2
daidzein	affects cotreatment, increases expression	1
daidzin	affects cotreatment, increases expression	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	increases expression	1
genistin	affects cotreatment, increases expression	1
glycitein	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
glycitin	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
(+)-JQ1 compound	decreases reaction, increases expression	1
NSC668394	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Dasatinib	decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Endosulfan	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1
Genistein	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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