FAM187B

Summary

FAM187B (family with sequence similarity 187 member B, HGNC:26366) is a protein-coding gene on chromosome 19q13.12, encoding Protein FAM187B (Q17R55).

Predicted to be located in membrane.

Source: NCBI Gene 148109 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_152481

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26366
Approved symbol	FAM187B
Name	family with sequence similarity 187 member B
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25660
Ensembl gene	ENSG00000177558
Ensembl biotype	protein_coding
Entrez	148109

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000324675

RefSeq mRNA: 1 — MANE Select: NM_152481 NM_152481

CCDS: CCDS12448

Canonical transcript exons

ENST00000324675 — 2 exons

Exon	Start	End
ENSE00001227659	35224800	35225212
ENSE00001227668	35227959	35228739

Expression profiles

Bgee: expression breadth broad, 55 present calls, max score 93.85.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1332 / max 129.4614, expressed in 4 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180498	0.1110	4
180499	0.0118	3
180500	0.0104	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.85	gold quality
right testis	UBERON:0004534	93.01	gold quality
left testis	UBERON:0004533	92.86	gold quality
sperm	CL:0000019	92.28	gold quality
testis	UBERON:0000473	89.54	gold quality
adult organism	UBERON:0007023	83.17	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
epithelial cell of pancreas	CL:0000083	53.74	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
tibialis anterior	UBERON:0001385	53.46	silver quality
pancreatic ductal cell	CL:0002079	52.53	silver quality
deltoid	UBERON:0001476	50.54	gold quality
myocardium	UBERON:0002349	50.25	gold quality
ileal mucosa	UBERON:0000331	47.31	silver quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
quadriceps femoris	UBERON:0001377	46.52	gold quality
middle temporal gyrus	UBERON:0002771	46.45	gold quality
right lung	UBERON:0002167	46.01	gold quality
vastus lateralis	UBERON:0001379	45.40	gold quality
skin of hip	UBERON:0001554	44.84	silver quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
cartilage tissue	UBERON:0002418	42.11	gold quality
spleen	UBERON:0002106	41.81	gold quality
germinal epithelium of ovary	UBERON:0001304	41.75	gold quality
mucosa of stomach	UBERON:0001199	41.66	silver quality
buccal mucosa cell	CL:0002336	41.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam187b	ENSMUSG00000046826
rattus_norvegicus	Fam187b	ENSRNOG00000021060

Paralogs (1): FAM187A (ENSG00000214447)

Protein

Protein identifiers

Protein FAM187B — Q17R55 (reviewed: Q17R55)

Alternative names: Transmembrane protein 162

All UniProt accessions (1): Q17R55

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the FAM187 family.

RefSeq proteins (1): NP_689694* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR039311	FAM187A/B	Family

UniProt features (11 total): sequence variant 3, glycosylation site 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17R55-F1	86.74	0.65

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (3): 45, 68, 130

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): MARTENS_TRETINOIN_RESPONSE_UP, HAY_BONE_MARROW_PLATELET, GSE9946_IMMATURE_VS_MATURE_STIMULATORY_DC_DN, chr19q13, GSE9988_LPS_VS_LOW_LPS_MONOCYTE_DN, GSE40666_WT_VS_STAT4_KO_CD8_TCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

498 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM187B	OR7G3	Q8NG95	730
FAM187B	SLC22A24	Q8N4F4	649
FAM187B	CBY2	Q8NA61	626
FAM187B	TMCO4	Q5TGY1	621
FAM187B	SLFNL1	Q499Z3	606
FAM187B	ZNF80	P51504	578
FAM187B	ABCA10	Q8WWZ4	566
FAM187B	CCHCR1	Q8TD31	560
FAM187B	FAM171B	Q6P995	479
FAM187B	EFCAB13	Q8IY85	479
FAM187B	RFPL1	O75677	474
FAM187B	KRT83	P78385	453
FAM187B	SLC22A10	Q63ZE4	439
FAM187B	OXCT2	Q9BYC2	419
FAM187B	KLHL10	Q6JEL2	403

IntAct

6 interactions, top by confidence:

A	B	Type	Score
FAM187B	HSPA5	psi-mi:“MI:0914”(association)	0.530
ACTB	ENAH	psi-mi:“MI:0914”(association)	0.350
FAM187B	DCTN3	psi-mi:“MI:0914”(association)	0.350
LMX1B	CD33	psi-mi:“MI:0914”(association)	0.350

BioGRID (33): CLGN (Affinity Capture-MS), VRK2 (Affinity Capture-MS), ATP1A3 (Affinity Capture-MS), CANX (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), SPPL2B (Affinity Capture-MS), SLC25A6 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), OSBPL8 (Affinity Capture-MS), TUBA1A (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), MOSPD2 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SLC25A6 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTW7, A0A1D5NSK0, A0A1L8HYT7, A0A286YEC0, D3ZT86, D3ZWJ9, D4A929, F8W3R9, G7PWZ3, I6M4H4, O08852, O43157, O43278, O75074, O88204, P17813, P49000, P59383, Q04912, Q17R55, Q499Z3, Q4R3B7, Q4TUC0, Q5ND34, Q62190, Q63961, Q6AXX1, Q76MJ5, Q7TN88, Q7TQH7, Q7Z442, Q7Z4F1, Q80W87, Q80YN4, Q866Y3, Q86VZ4, Q8BHW9, Q8BMN4, Q8BYI8, Q8BZT7

Diamond homologs: Q0VAY3, Q17R55, Q4R7Z5, A7E3C4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

262 predictions. Top by Δscore:

Variant	Effect	Δscore
19:35225208:CGGGC:C	acceptor_gain	1.0000
19:35225213:C:CC	acceptor_gain	1.0000
19:35225210:GGC:G	acceptor_gain	0.9900
19:35225210:GGCCT:G	acceptor_loss	0.9900
19:35225211:GC:G	acceptor_gain	0.9900
19:35225212:CC:C	acceptor_gain	0.9900
19:35225212:CCTGC:C	acceptor_loss	0.9900
19:35225213:C:CA	acceptor_loss	0.9900
19:35225214:T:C	acceptor_loss	0.9900
19:35228160:T:TA	donor_gain	0.9900
19:35225209:GGGC:G	acceptor_gain	0.9800
19:35225216:C:CT	acceptor_gain	0.9800
19:35228050:A:C	donor_gain	0.9800
19:35228085:TCC:T	donor_gain	0.9800
19:35225217:G:T	acceptor_gain	0.9500
19:35227880:ATC:A	donor_gain	0.9400
19:35228084:TTC:T	donor_gain	0.9400
19:35228087:C:CT	donor_gain	0.9400
19:35228086:C:CT	donor_gain	0.9300
19:35227914:G:T	donor_gain	0.9200
19:35227965:A:C	donor_gain	0.9200
19:35227958:CCT:C	donor_gain	0.8800
19:35227894:A:AC	donor_gain	0.8600
19:35227891:CATA:C	donor_gain	0.8400
19:35227959:CTG:C	donor_gain	0.8400
19:35227960:TGT:T	donor_gain	0.8400
19:35225225:CAAGG:C	acceptor_gain	0.8300
19:35227953:CATCA:C	donor_loss	0.8200
19:35227955:TCAC:T	donor_loss	0.8200
19:35227956:CA:C	donor_loss	0.8200

AlphaMissense

2414 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:35225047:G:C	F296L	0.929
19:35225047:G:T	F296L	0.929
19:35225049:A:G	F296L	0.929
19:35228351:A:C	F110L	0.895
19:35228351:A:T	F110L	0.895
19:35228353:A:G	F110L	0.895
19:35228018:G:C	F221L	0.873
19:35228018:G:T	F221L	0.873
19:35228020:A:G	F221L	0.873
19:35225074:G:C	F287L	0.870
19:35225074:G:T	F287L	0.870
19:35225076:A:G	F287L	0.870
19:35225098:G:C	F279L	0.866
19:35225098:G:T	F279L	0.866
19:35225100:A:G	F279L	0.866
19:35228027:A:C	F218L	0.857
19:35228027:A:T	F218L	0.857
19:35228029:A:G	F218L	0.857
19:35228255:A:C	F142L	0.854
19:35228255:A:T	F142L	0.854
19:35228257:A:G	F142L	0.854
19:35225200:C:A	W245C	0.837
19:35225200:C:G	W245C	0.837
19:35225173:C:A	W254C	0.819
19:35225173:C:G	W254C	0.819
19:35228246:C:A	W145C	0.807
19:35228246:C:G	W145C	0.807
19:35225202:A:G	W245R	0.790
19:35225202:A:T	W245R	0.790
19:35225048:A:C	F296C	0.781

dbSNP variants (sampled 300 via entrez): RS1000059930 (19:35228811 CTTTTG>C), RS1001389321 (19:35224502 T>C,G), RS1001779959 (19:35228722 C>A,T), RS1003165856 (19:35226496 A>G), RS1006164245 (19:35225431 T>C), RS1007738055 (19:35230012 A>G), RS1007762633 (19:35227788 C>A), RS1008763298 (19:35226419 T>C), RS1009582535 (19:35229757 G>A,T), RS1009791738 (19:35224412 G>A), RS1009878078 (19:35228753 A>C,G), RS1009951675 (19:35227775 C>T), RS1010046547 (19:35230047 C>A,T), RS1010542512 (19:35226367 A>G,T), RS1011011585 (19:35226576 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)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
tebuconazole	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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