FAM180B

Summary

FAM180B (family with sequence similarity 180 member B, HGNC:34451) is a protein-coding gene on chromosome 11p11.2, encoding Protein FAM180B (Q6P0A1).

Predicted to be located in extracellular region.

Source: NCBI Gene 399888 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_001164379

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34451
Approved symbol	FAM180B
Name	family with sequence similarity 180 member B
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	LOC399888
Ensembl gene	ENSG00000196666
Ensembl biotype	protein_coding
Entrez	399888

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000538490, ENST00000966791

RefSeq mRNA: 4 — MANE Select: NM_001164379 NM_001164379, NM_001367966, NM_001367967, NM_001367968

CCDS: CCDS91471

Canonical transcript exons

ENST00000538490 — 3 exons

Exon	Start	End
ENSE00001400840	47587751	47587821
ENSE00001403180	47588039	47589194
ENSE00002232197	47586678	47586853

Expression profiles

Bgee: expression breadth ubiquitous, 111 present calls, max score 84.99.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	84.99	gold quality
tibial nerve	UBERON:0001323	73.52	gold quality
skin of leg	UBERON:0001511	72.52	gold quality
subcutaneous adipose tissue	UBERON:0002190	70.95	gold quality
zone of skin	UBERON:0000014	70.87	gold quality
right coronary artery	UBERON:0001625	70.62	gold quality
hindlimb stylopod muscle	UBERON:0004252	69.86	gold quality
skin of abdomen	UBERON:0001416	68.64	gold quality
cortical plate	UBERON:0005343	65.81	gold quality
tibial artery	UBERON:0007610	65.35	gold quality
popliteal artery	UBERON:0002250	65.30	gold quality
left coronary artery	UBERON:0001626	64.86	gold quality
thyroid gland	UBERON:0002046	64.21	gold quality
adipose tissue	UBERON:0001013	64.02	gold quality
left lobe of thyroid gland	UBERON:0001120	63.45	gold quality
right lobe of thyroid gland	UBERON:0001119	62.99	gold quality
cerebellum	UBERON:0002037	60.89	gold quality
cerebellar cortex	UBERON:0002129	60.71	gold quality
cerebellar hemisphere	UBERON:0002245	60.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	59.85	gold quality
substantia nigra	UBERON:0002038	59.82	gold quality
putamen	UBERON:0001874	59.66	gold quality
skeletal muscle tissue	UBERON:0001134	59.10	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	58.87	gold quality
ganglionic eminence	UBERON:0004023	58.14	gold quality
thoracic mammary gland	UBERON:0005200	58.06	gold quality
muscle tissue	UBERON:0002385	57.43	gold quality
muscle of leg	UBERON:0001383	57.27	gold quality
hypothalamus	UBERON:0001898	57.15	gold quality
primary visual cortex	UBERON:0002436	57.08	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.54
E-GEOD-99795	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting FAM180B, 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-150-5P	99.99	66.69	1976
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6877-3P	98.98	65.83	560
HSA-MIR-6819-3P	98.95	65.57	572
HSA-MIR-6895-3P	98.79	65.69	996
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-550B-2-5P	96.56	64.61	646
HSA-MIR-6835-5P	95.81	64.27	500
HSA-MIR-571	95.38	66.54	671
HSA-MIR-6732-5P	93.97	64.65	422

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	FAM180A	ENSDARG00000103102

Paralogs (1): FAM180A (ENSG00000189320)

Protein

Protein identifiers

Protein FAM180B — Q6P0A1 (reviewed: Q6P0A1)

All UniProt accessions (1): Q6P0A1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the FAM180 family.

RefSeq proteins (4): NP_001157851, NP_001354895, NP_001354896, NP_001354897 (=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-Q6P0A1-F1	79.26	0.59

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): MARTENS_TRETINOIN_RESPONSE_DN, MIR8485, MIR550B_2_5P, SMN1_SMN2_TARGET_GENES, DESCARTES_MAIN_FETAL_SKELETAL_MUSCLE_CELLS, GSE2405_0H_VS_6H_A_PHAGOCYTOPHILUM_STIM_NEUTROPHIL_DN, GSE22601_IMMATURE_CD4_SINGLE_POSITIVE_VS_DOUBLE_POSITIVE_THYMOCYTE_UP, chr11p11

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

354 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM180B	SLC39A13	Q96H72	604
FAM180B	C1QTNF4	Q9BXJ3	550
FAM180B	SLC24A4	Q8NFF2	474
FAM180B	NYAP1	Q6ZVC0	447
FAM180B	GAGE12H	A6NDE8	446
FAM180B	MTHFD1L	Q6UB35	445
FAM180B	SUCLG2	Q96I99	428
FAM180B	BNIP5	P0C671	418
FAM180B	NPIPB9	F8W1W9	412
FAM180B	LRRC37A	A6NMS7	391
FAM180B	GAGE12B	A1L429	391
FAM180B	HRCT1	Q6UXD1	383
FAM180B	ZCWPW1	Q9H0M4	377
FAM180B	VIT	Q6UXI7	366
FAM180B	MGAT4C	Q9UBM8	364

IntAct

4 interactions, top by confidence:

A	B	Type	Score
FAM180B	CMTM2	psi-mi:“MI:0915”(physical association)	0.560
FAM180B	CMTM2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): FAM180B (Two-hybrid), FAM180B (Positive Genetic)

ESM2 similar proteins: A0A096P2H6, A0A0D9S1R4, A0A2Y9GDB5, A0JNN2, A8MXV6, D2H5P6, E1BLZ4, E1C7U0, P0DKW1, P0DKW2, P0DKW3, P0DKW4, P0DKY3, P0DML4, P0DML5, P0DML6, P0DMN8, P0DOC4, P0DP53, P0DTG9, P0DTH0, P0DTH1, P0DTH2, P0DTH3, P0DTH4, P0DUP6, P24001, P55056, P55797, Q2TBQ4, Q32KP7, Q3SYR5, Q5EAA5, Q5JX69, Q5R7E2, Q5U2R2, Q68DK2, Q6MG51, Q6P0A1, Q6UJB9

Diamond homologs: Q6P0A1, Q6UWF9, Q8BR21

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

531 predictions. Top by Δscore:

Variant	Effect	Δscore
11:47587807:G:GT	donor_gain	1.0000
11:47586804:G:GA	donor_gain	0.9900
11:47587807:G:T	donor_gain	0.9900
11:47586803:T:TA	donor_gain	0.9800
11:47588037:A:AG	acceptor_gain	0.9700
11:47588038:G:GG	acceptor_gain	0.9700
11:47588038:GCT:G	acceptor_gain	0.9600
11:47586806:T:TA	donor_gain	0.9500
11:47586807:A:AA	donor_gain	0.9500
11:47587810:G:GG	donor_gain	0.9500
11:47587813:A:AG	donor_gain	0.9500
11:47588037:AGCT:A	acceptor_gain	0.9500
11:47588038:GCTG:G	acceptor_gain	0.9500
11:47586805:G:GG	donor_gain	0.9400
11:47587816:TTTG:T	donor_gain	0.9400
11:47588034:TGCAG:T	acceptor_loss	0.9400
11:47588035:GCAGC:G	acceptor_loss	0.9400
11:47588036:CAGCT:C	acceptor_loss	0.9400
11:47588037:AGCTG:A	acceptor_loss	0.9400
11:47588038:G:GT	acceptor_loss	0.9400
11:47586833:C:G	donor_gain	0.9300
11:47586849:TGCAG:T	donor_loss	0.9300
11:47586850:GCAGG:G	donor_loss	0.9300
11:47586851:C:T	donor_gain	0.9300
11:47586851:CAG:C	donor_loss	0.9300
11:47586852:AG:A	donor_loss	0.9300
11:47586853:GG:G	donor_loss	0.9300
11:47586855:T:G	donor_loss	0.9300
11:47587866:GTCCC:G	donor_gain	0.9300
11:47587867:TCCCT:T	donor_gain	0.9300

AlphaMissense

1175 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:47588234:T:C	F118L	0.901
11:47588236:T:A	F118L	0.901
11:47588236:T:G	F118L	0.901
11:47588314:G:C	W144C	0.900
11:47588314:G:T	W144C	0.900
11:47588312:T:A	W144R	0.878
11:47588312:T:C	W144R	0.878
11:47588085:T:C	I68T	0.856
11:47588324:T:C	F148L	0.853
11:47588326:C:A	F148L	0.853
11:47588326:C:G	F148L	0.853
11:47588364:A:T	K161I	0.841
11:47588365:A:C	K161N	0.836
11:47588365:A:T	K161N	0.836
11:47588235:T:G	F118C	0.828
11:47588255:G:C	G125R	0.813
11:47588047:G:C	W55C	0.804
11:47588047:G:T	W55C	0.804
11:47588244:T:C	L121P	0.800
11:47588118:G:A	G79D	0.795
11:47588085:T:G	I68S	0.794
11:47587821:G:C	E52D	0.790
11:47587821:G:T	E52D	0.790
11:47588369:T:C	F163L	0.787
11:47588371:C:A	F163L	0.787
11:47588371:C:G	F163L	0.787
11:47587820:A:T	E52V	0.779
11:47588090:G:C	D70H	0.775
11:47588353:G:C	W157C	0.775
11:47588353:G:T	W157C	0.775

dbSNP variants (sampled 300 via entrez): RS1000827208 (11:47586458 TGCTACCAAACA>T), RS1001087502 (11:47586258 G>A,T), RS1001120002 (11:47589324 C>T), RS1001429609 (11:47584979 C>G), RS1001467928 (11:47589588 G>A,C,T), RS1002926956 (11:47589445 G>A), RS1003494206 (11:47589659 C>A,T), RS1003669449 (11:47588106 CCACA>C), RS1004875620 (11:47589468 G>A,T), RS1004917720 (11:47589219 G>A), RS1004968456 (11:47588858 T>A), RS1005231020 (11:47588802 G>A), RS1006099750 (11:47585757 G>A,C), RS1006752041 (11:47588652 G>A), RS1007241231 (11:47585813 TG>T)

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

8 associations (top):

Study	Trait	p-value
GCST005232_56	Neuroticism	1.000000e-16
GCST006923_11	Loneliness	1.000000e-07
GCST006924_13	Loneliness (MTAG)	1.000000e-08
GCST007825_4	Alzheimer’s disease or fasting glucose levels (pleiotropy)	3.000000e-16
GCST008103_60	Bipolar disorder	5.000000e-07
GCST010002_238	Refractive error	2.000000e-14
GCST010136_2	Fruit consumption	5.000000e-09
GCST010703_36	Brain morphology (MOSTest)	8.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0007865	loneliness measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
Benzo(a)pyrene	increases methylation	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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