FAM187A

Summary

FAM187A (family with sequence similarity 187 member A, HGNC:35153) is a protein-coding gene on chromosome 17q21.31, encoding Ig-like V-type domain-containing protein FAM187A (A6NFU0).

Predicted to be located in membrane.

Source: NCBI Gene 100528020 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001258400

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35153
Approved symbol	FAM187A
Name	family with sequence similarity 187 member A
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214447
Ensembl biotype	protein_coding
Entrez	100528020

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000331733

RefSeq mRNA: 1 — MANE Select: NM_001258400 NM_001258400

CCDS: CCDS86601

Canonical transcript exons

ENST00000331733 — 1 exons

Exon	Start	End
ENSE00003625140	44903433	44905390

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 91.05.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0250 / max 63.6030, expressed in 608 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161197	1.0250	608
161198	0.2761	115

Top tissues by expression

133 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	91.05	gold quality
left testis	UBERON:0004533	81.63	gold quality
testis	UBERON:0000473	81.15	gold quality
right testis	UBERON:0004534	81.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.23	gold quality
right uterine tube	UBERON:0001302	78.04	gold quality
prefrontal cortex	UBERON:0000451	71.09	gold quality
right adrenal gland	UBERON:0001233	70.69	gold quality
fallopian tube	UBERON:0003889	70.13	gold quality
superior frontal gyrus	UBERON:0002661	69.33	gold quality
right adrenal gland cortex	UBERON:0035827	69.29	gold quality
frontal cortex	UBERON:0001870	68.20	gold quality
ventricular zone	UBERON:0003053	67.53	gold quality
left adrenal gland	UBERON:0001234	66.98	gold quality
left adrenal gland cortex	UBERON:0035825	66.55	gold quality
cerebral cortex	UBERON:0000956	66.01	gold quality
anterior cingulate cortex	UBERON:0009835	65.70	gold quality
adrenal gland	UBERON:0002369	65.50	gold quality
nucleus accumbens	UBERON:0001882	65.48	gold quality
hypothalamus	UBERON:0001898	65.33	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	65.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.05	gold quality
islet of Langerhans	UBERON:0000006	64.96	gold quality
adenohypophysis	UBERON:0002196	64.88	gold quality
right frontal lobe	UBERON:0002810	64.23	gold quality
adult mammalian kidney	UBERON:0000082	63.82	gold quality
caudate nucleus	UBERON:0001873	63.66	gold quality
stromal cell of endometrium	CL:0002255	63.58	gold quality
amygdala	UBERON:0001876	63.40	gold quality
temporal lobe	UBERON:0001871	63.33	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam187a	ENSMUSG00000075510
rattus_norvegicus	FAM187A	ENSRNOG00000002918

Paralogs (1): FAM187B (ENSG00000177558)

Protein

Protein identifiers

Ig-like V-type domain-containing protein FAM187A — A6NFU0 (reviewed: A6NFU0)

All UniProt accessions (1): A6NFU0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the FAM187 family.

RefSeq proteins (1): NP_001245329* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR039311	FAM187A/B	Family

Pfam: PF07686

UniProt features (8 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NFU0-F1	83.09	0.48

Functional residue map

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

Disulfide bonds (1): 289–345

Glycosylation sites (1): 317

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): RB_P130_DN.V1_UP, ATF6_TARGET_GENES, CREB3L4_TARGET_GENES, DACH1_TARGET_GENES, DIDO1_TARGET_GENES, DLX4_TARGET_GENES, FOXN3_TARGET_GENES, HMG20B_TARGET_GENES, ID2_TARGET_GENES, IRF5_TARGET_GENES, LMTK3_TARGET_GENES, MCRS1_TARGET_GENES, NCOA2_TARGET_GENES, NFE2L1_TARGET_GENES, NKX2_3_TARGET_GENES

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

256 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM187A	INSYN1	Q2T9L4	600
FAM187A	METTL21C	Q5VZV1	516
FAM187A	RHBG	Q9H310	467
FAM187A	FOXR1	Q6PIV2	452
FAM187A	HIGD1B	Q9P298	351
FAM187A	ZNF750	Q32MQ0	349
FAM187A	SUCNR1	Q9BXA5	349
FAM187A	BMP10	O95393	315
FAM187A	ETFRF1	Q6IPR1	305
FAM187A	HGFAC	Q04756	286
FAM187A	GJB1	P08034	254
FAM187A	KCNA2	P16389	247
FAM187A	HIGD1A	Q9Y241	240
FAM187A	AP1M2	Q9Y6Q5	224
FAM187A	MTCH1	Q9NZJ7	221

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CNTN5	FAM187A	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A4D0V7, A6H684, A6NDA9, A6NFU0, A7E3C4, D3ZNQ3, E7FBY6, F1LW30, F1QVU0, F8VQ03, O95256, P0DV84, P20062, P27931, P97793, Q08BN9, Q0P3U3, Q2NKH9, Q2YDM8, Q3U095, Q52KP5, Q5M7W6, Q5SS91, Q5SY16, Q5U3T0, Q5XI89, Q5XWD5, Q640M6, Q6AXV7, Q6ITT3, Q6P2S7, Q6P3V7, Q6PFC5, Q86VS3, Q8C8H8, Q8CIP5, Q8K1S2, Q8NHY0, Q8VI38, Q8WTR4

Diamond homologs: A6NFU0, A7E3C4, Q6AXV7, Q9D3R5, A2AJ76

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:44904729:G:C	W300C	0.997
17:44904729:G:T	W300C	0.997
17:44904203:G:A	C125Y	0.996
17:44904727:T:A	W300R	0.996
17:44904727:T:C	W300R	0.996
17:44904022:T:A	W65R	0.995
17:44904022:T:C	W65R	0.995
17:44904024:G:C	W65C	0.995
17:44904024:G:T	W65C	0.995
17:44904354:G:C	W175C	0.995
17:44904354:G:T	W175C	0.995
17:44904202:T:A	C125S	0.994
17:44904203:G:C	C125S	0.994
17:44903986:T:A	C53S	0.993
17:44903987:G:A	C53Y	0.993
17:44903987:G:C	C53S	0.993
17:44904196:T:G	Y123D	0.993
17:44904204:C:G	C125W	0.993
17:44903986:T:C	C53R	0.992
17:44904202:T:C	C125R	0.991
17:44904203:G:T	C125F	0.991
17:44904864:C:G	C345W	0.991
17:44903988:T:G	C53W	0.990
17:44904368:G:C	R180P	0.990
17:44903981:T:C	L51P	0.989
17:44904158:T:C	L110S	0.989
17:44904395:G:C	R189P	0.989
17:44904694:T:A	C289S	0.989
17:44904694:T:C	C289R	0.989
17:44904695:G:C	C289S	0.989

dbSNP variants (sampled 300 via entrez): RS1000196134 (17:44903509 C>T), RS1001350705 (17:44903376 C>T), RS1001698702 (17:44902924 T>C), RS1001848382 (17:44905651 T>C), RS1002967954 (17:44904255 C>G,T), RS1003045339 (17:44903327 G>C), RS1003430731 (17:44904606 T>C), RS1003904288 (17:44905635 G>A), RS1003922916 (17:44904157 T>C), RS1004027441 (17:44904657 C>A), RS1006460209 (17:44904232 G>A), RS1006805289 (17:44903819 C>G,T), RS1007807913 (17:44905066 C>T), RS1007873598 (17:44903720 T>A,C), RS1009640634 (17:44902067 G>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:614679

GenCC curated gene-disease

Mondo (1): primary ciliary dyskinesia 17 (MONDO:0013854)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	1
Smoke	increases abundance, increases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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