FAIM2

Summary

FAIM2 (Fas apoptotic inhibitory molecule 2, HGNC:17067) is a protein-coding gene on chromosome 12q13.12, encoding Protein lifeguard 2 (Q9BWQ8). Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis.

Predicted to enable calcium channel activity. Involved in regulation of neuron apoptotic process. Acts upstream of or within negative regulation of extrinsic apoptotic signaling pathway via death domain receptors. Located in Golgi membrane and membrane raft.

Source: NCBI Gene 23017 — RefSeq curated summary.

At a glance

• GWAS associations: 54
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_012306

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17067
Approved symbol	FAIM2
Name	Fas apoptotic inhibitory molecule 2
Location	12q13.12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2
Ensembl gene	ENSG00000135472
Ensembl biotype	protein_coding
OMIM	604306
Entrez	23017

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 nonsense_mediated_decay

ENST00000320634, ENST00000547871, ENST00000550195, ENST00000550635, ENST00000550890, ENST00000552669, ENST00000552863, ENST00000903551, ENST00000947304, ENST00000947305

RefSeq mRNA: 1 — MANE Select: NM_012306 NM_012306

CCDS: CCDS8791

Canonical transcript exons

ENST00000320634 — 12 exons

Exon	Start	End
ENSE00000919756	49890683	49890722
ENSE00001221566	49897987	49898090
ENSE00001222018	49889481	49889568
ENSE00001222021	49890117	49890154
ENSE00001222033	49891064	49891114
ENSE00001222041	49897031	49897084
ENSE00001222046	49897519	49897583
ENSE00001222088	49866896	49870653
ENSE00002348143	49903778	49903900
ENSE00003474939	49889107	49889202
ENSE00003585946	49887386	49887439
ENSE00003675305	49901130	49901325

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 99.13.

FANTOM5 (CAGE): breadth broad, TPM avg 27.6293 / max 1555.4641, expressed in 733 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130882	21.1457	606
130883	4.2652	396
130886	0.4862	114
130884	0.4706	113
130885	0.3157	89
130887	0.3073	84
130888	0.2544	80
130877	0.1076	67
130865	0.0601	38
130876	0.0589	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	99.13	gold quality
prefrontal cortex	UBERON:0000451	99.12	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.69	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.63	gold quality
cerebellar hemisphere	UBERON:0002245	98.60	gold quality
frontal cortex	UBERON:0001870	98.59	gold quality
cerebellar cortex	UBERON:0002129	98.59	gold quality
caudate nucleus	UBERON:0001873	98.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.45	gold quality
anterior cingulate cortex	UBERON:0009835	98.44	gold quality
nucleus accumbens	UBERON:0001882	98.42	gold quality
cingulate cortex	UBERON:0003027	98.41	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.38	gold quality
hypothalamus	UBERON:0001898	98.30	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.22	gold quality
cerebellum	UBERON:0002037	98.18	gold quality
putamen	UBERON:0001874	98.13	gold quality
neocortex	UBERON:0001950	98.09	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.03	gold quality
pons	UBERON:0000988	98.02	gold quality
amygdala	UBERON:0001876	98.02	gold quality
postcentral gyrus	UBERON:0002581	97.88	gold quality
spinal cord	UBERON:0002240	97.86	gold quality
parietal lobe	UBERON:0001872	97.70	gold quality
telencephalon	UBERON:0001893	97.68	gold quality
middle frontal gyrus	UBERON:0002702	97.67	gold quality
cerebral cortex	UBERON:0000956	97.59	gold quality
temporal lobe	UBERON:0001871	97.53	gold quality
superior frontal gyrus	UBERON:0002661	97.50	gold quality
superior vestibular nucleus	UBERON:0007227	97.38	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	47.41
E-GEOD-84465	yes	23.57
E-GEOD-93593	yes	15.68
E-MTAB-7316	yes	13.64
E-ANND-3	yes	7.29
E-ENAD-17	no	170.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): LEF1

miRNA regulators (miRDB)

130 targeting FAIM2, 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-4283	100.00	66.42	2097
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-1255A	99.74	68.09	744

Literature-anchored findings (GeneRIF, showing 31)

• Human keratinocytes were transfected with either Flip, Faim, or Lifeguard (LFG). Our results suggest that heterotopic expression of antiapoptotic proteins can induce the resistance of keratinocytes to a major mechanism of rejection. (PMID:17912957)
• The tmbim2 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments (PMID:18440869)
• Data show that SNPs in SEC16B and TMEM18 were significantly associated with obesity, and the SNPs in GNPDA2, BDNF, FAIM2 and MC4R were marginally associated with obesity in Japanese. (PMID:19851340)
• LFG is strongly expressed in breast cancer epithelial cells. Moreover, the overexpression of LFG correlated with tumour grade and reduced Fas sensitivity. (PMID:20336406)
• Analysis identified SNPs at three loci known to be associated with BMI with genome-wide confidence (P<5x10(-8); FTO, MC4R and FAIM2). (PMID:21935397)
• LFG is required for proper development and survival of granular and Purkinje cells and LFG may play a role in cerebellar disorders (PMID:21957071)
• The rs7138803 variant of FAIM2 was found to exert no effect on obesity in a Chinese Han population. (PMID:23924573)
• Faim2 is physiologically expressed in brain in bacterial meningitis. (PMID:24335530)
• A polymorphism in FAIM2 is associated with higher myocardial infarction risk in type-2 diabetes mellitus subjects. (PMID:24393375)
• This study highlighted the importance of two candidate genes, SH2B1 and FAIM2, in the risk of overweight/obesity. (PMID:24621099)
• Results indicated that FAIM2 beta-isoform is strongly expressed in breast tumour tissues. Fas sensitivity was reduced in the MCF10A breast cells expressing the FAIM2 beta-isoform. (PMID:25069766)
• Methylation levels of the FAIM2 promoter are significantly associated with obesity and are independently associated with dyslipidaemia and its components in Chinese children. (PMID:25696115)
• Low KRT13 mRNA expression is associated with oral squamous cell carcinoma. (PMID:25735388)
• These results suggest that the TMBIM family has comparable functions in the maintenance of intracellular Ca(2) homeostasis in a wide variety of tissues (PMID:25764978)
• There are significant differences in the associations of the FAIM2 promoter methylation with sedentary behaviour and physical activity between obese and lean children. (PMID:25922107)
• The interaction of TRIM21 and LFG was analyzed by co-immunoprecipitation. To examine changes in regulatory processes, western blot analyses, real-time PCR, activity of apoptotic process and flow cytometric analyses were carried out. (PMID:26398169)
• our research showed that lncRNA-SNHG7 promotes the proliferation, migration and invasion, and inhibits apoptosis of lung cancer cells by enhancing the FAIM2 expression, suggesting that lncRNA-SNHG7 as a key regulator of gene expression, may be a promising therapeutic strategy for the treatment of lung cancer (PMID:27666964)
• FAIM2 expression is significantly downregulated in human masticatory mucosa during wound healing (PMID:28005267)
• that miR-193b is indispensible for the competitive endogenous RNA role of SNHG7 in FAIM2-supported tumourigenesis of lung cancer (PMID:29131440)
• results suggest that high level miR-3202 in T lymphocytes may protect epithelial cells through targeting FAIM2. MiR-3202 might be used as a notable biomarker of chronic obstructive pulmonary disease . (PMID:29208459)
• Faim2 up-regulation may contribute to the neuroprotective effects of low-dose erythropoietin in transient brain ischemia (PMID:29315561)
• DCST1-AS1 up-regulates the expression of FAIM2 by up-regulating the expression of miR-1254, ultimately promoting the proliferation of hepatocellular carcinoma cells. (PMID:30617187)
• Interstitial serum albumin empowers osteosarcoma cells with FAIM2 transcription to obtain viability via dedifferentiation. (PMID:31942726)
• Loci near TMEM18 (rs6548238), CDKAL1 (rs7754840), and FAIM2 (rs7138803) may be associated with obesity-related indicators, and loci near TMEM18 (rs6548238) and FAIM2 (rs7138803) may increase susceptibility of concurrent type 2 diabetes associated with obesity. (PMID:32228543)
• Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia. (PMID:32428554)
• Analysis of Polymorphisms rs7093069-IL-2RA, rs7138803-FAIM2, and rs1748033-PADI4 in the Group of Adolescents With Autoimmune Thyroid Diseases. (PMID:33193078)
• SNHG7 and FAIM2 are up-regulated and co-expressed in colorectal adenocarcinoma tissues.", trans “SNHG7 a FAIM2 jsou ve tkani kolorektalniho karcinomu up-regulovany a koexprimovany. (PMID:33685194)
• Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis. (PMID:35468884)
• FAIM2 is correlated with metastasis of medulloblastoma through bioinformatics analysis. (PMID:37083768)
• miR-127-5p regulates FAIM2-mediated cell apoptosis and participates in cerebral ischemia-reperfusion injury. (PMID:38430020)
• Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3’ UTR of FAIM2. (PMID:38697123)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	faim2b	ENSDARG00000105362
mus_musculus	Faim2	ENSMUSG00000023011
rattus_norvegicus	Faim2	ENSRNOG00000045554
drosophila_melanogaster	Nmda1	FBGN0013305
drosophila_melanogaster	Lfg	FBGN0025692
drosophila_melanogaster	Recs1	FBGN0038209
drosophila_melanogaster	CG30379	FBGN0050379
caenorhabditis_elegans		WBGENE00006470
caenorhabditis_elegans		WBGENE00009580
caenorhabditis_elegans		WBGENE00021537

Paralogs (5): TMBIM1 (ENSG00000135926), TMBIM6 (ENSG00000139644), TMBIM4 (ENSG00000155957), GHITM (ENSG00000165678), GRINA (ENSG00000178719)

Protein

Protein identifiers

Protein lifeguard 2 — Q9BWQ8 (reviewed: Q9BWQ8)

Alternative names: Fas apoptotic inhibitory molecule 2, Neural membrane protein 35, Transmembrane BAX inhibitor motif-containing protein 2

All UniProt accessions (6): A0A0A0MTP9, Q9BWQ8, F8VV65, F8VZI9, F8W1L3, H0YIR3

UniProt curated annotations — full annotation on UniProt →

Function. Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development.

Subunit / interactions. Interacts with FAS/TNFRSF6 and BAX.

Subcellular location. Cell membrane. Membrane raft. Postsynaptic cell membrane.

Tissue specificity. Highly expressed in breast carcinoma tissues. Enhanced expression correlates with the grade of the tumor (grade II/grade III) in primary breast tumors (at protein level). Widely expressed. Expressed at high levels in the brain especially in the hippocampus.

Induction. Regulated by the AKT1/LEF1 pathway in breast cancer cell lines.

Similarity. Belongs to the BI1 family. LFG subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BWQ8-1	1	yes
Q9BWQ8-2	2

RefSeq proteins (1): NP_036438* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006214	Bax_inhibitor_1-related	Family

Pfam: PF01027

UniProt features (12 total): transmembrane region 7, chain 1, splice variant 1, sequence conflict 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BWQ8-F1	77.90	0.50

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 (1): 191

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GOBP_HINDBRAIN_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_CEREBELLAR_PURKINJE_CELL_LAYER_FORMATION, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEUROGENESIS, GOBP_MONOATOMIC_CATION_TRANSPORT, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_VIA_DEATH_DOMAIN_RECEPTORS, GOBP_CEREBELLAR_GRANULAR_LAYER_DEVELOPMENT, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT, GOBP_APOPTOTIC_SIGNALING_PATHWAY, AML_Q6

GO Biological Process (14): response to ischemia (GO:0002931), cerebellum development (GO:0021549), cerebellar Purkinje cell layer development (GO:0021680), cerebellar granular layer development (GO:0021681), cerebellar Purkinje cell differentiation (GO:0021702), negative regulation of apoptotic process (GO:0043066), regulation of neuron apoptotic process (GO:0043523), negative regulation of neuron apoptotic process (GO:0043524), neuron apoptotic process (GO:0051402), apoptotic signaling pathway (GO:0097190), negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042), apoptotic process (GO:0006915), calcium ion transmembrane transport (GO:0070588), negative regulation of apoptotic signaling pathway (GO:2001234)

GO Molecular Function (2): calcium channel activity (GO:0005262), protein binding (GO:0005515)

GO Cellular Component (8): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020), membrane raft (GO:0045121), postsynaptic membrane (GO:0045211), plasma membrane (GO:0005886), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	3
apoptotic process	3
cerebellar cortex development	2
regulation of apoptotic process	2
neuron apoptotic process	2
negative regulation of apoptotic process	2
apoptotic signaling pathway	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
response to stress	1
metencephalon development	1
cell differentiation in hindbrain	1
cerebellar Purkinje cell layer formation	1
central nervous system neuron differentiation	1
negative regulation of programmed cell death	1
regulation of neuron apoptotic process	1
signal transduction	1
extrinsic apoptotic signaling pathway via death domain receptors	1
regulation of extrinsic apoptotic signaling pathway via death domain receptors	1
negative regulation of extrinsic apoptotic signaling pathway	1
programmed cell death	1
execution phase of apoptosis	1
calcium ion transport	1
monoatomic cation transmembrane transport	1
negative regulation of signal transduction	1
regulation of apoptotic signaling pathway	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cellular anatomical structure	1
membrane microdomain	1
synaptic membrane	1
postsynapse	1
membrane	1
cell periphery	1
cell junction	1

Protein interactions and networks

STRING

1926 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAIM2	SEC16B	Q96JE7	772
FAIM2	GNPDA2	Q8TDQ7	770
FAIM2	BCDIN3D	Q7Z5W3	765
FAIM2	KCTD15	Q96SI1	720
FAIM2	TMEM18	Q96B42	719
FAIM2	SH2B1	Q9NRF2	697
FAIM2	MTCH2	Q9Y6C9	696
FAIM2	TMBIM6	P55061	669
FAIM2	NEGR1	Q7Z3B1	667
FAIM2	BCL2L1	Q07817	627
FAIM2	MC4R	P32245	622
FAIM2	V9GXZ4	V9GXZ4	596
FAIM2	FTO	Q9C0B1	593
FAIM2	TNNI3K	Q59H18	588
FAIM2	TMEM160	Q9NX00	587
FAIM2	FADD	Q13158	587

IntAct

9 interactions, top by confidence:

A	B	Type	Score
GGT6	FAIM2	psi-mi:“MI:0915”(physical association)	0.560
EPN2	FAIM2	psi-mi:“MI:0915”(physical association)	0.560
STK11	FAIM2	psi-mi:“MI:0915”(physical association)	0.370
FAIM2	NEDD4	psi-mi:“MI:0914”(association)	0.350
FAIM2	GGT6	psi-mi:“MI:0915”(physical association)	0.000
FAIM2	EPN2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): FAIM2 (Two-hybrid), TRIM21 (Reconstituted Complex), TRIM21 (Affinity Capture-Western), FAIM2 (Two-hybrid), GGT6 (Two-hybrid), BCL2L1 (Affinity Capture-Western), BCL2 (Affinity Capture-Western), FAIM2 (PCA), FAS (Affinity Capture-Western), LGALS7B (Affinity Capture-MS), NEDD4 (Affinity Capture-MS)

ESM2 similar proteins: A3KMY4, A4FUZ5, A5PF08, A5PMW0, A8XKF2, B0S5A7, B5X3W7, O88407, O97704, P55019, P59158, Q06496, Q13530, Q14AT5, Q17JQ7, Q1LZ71, Q20026, Q28620, Q4R6L9, Q53GD3, Q58CW5, Q5R4I4, Q5R533, Q5R5L9, Q5RJI2, Q60825, Q63175, Q6GN42, Q6IFT6, Q6MG71, Q6T3U3, Q6T3U4, Q7PRJ0, Q7Q5R7, Q7SYC9, Q7T2B0, Q803X0, Q86VE9, Q8BHJ6, Q8K097

Diamond homologs: F4JIE8, O25578, O31539, O74888, O88407, P0DXN1, P0DXN2, P0DXN3, Q11080, Q1LZ71, Q32L53, Q5R4I4, Q6P6R0, Q7Z429, Q8K097, Q94A20, Q9BWQ8, Q9DA39, Q9ESF4, Q9HC24, Q9KSA1, Q9M1V9, Q9PIQ8, Q9SA63, Q9ZKT1, Q9ZQX7, Q8BJZ3, Q969X1, Q9A2A3, O51489, O84826, P0AAC4, P0AAC5, P0DA10, P0DA11, P55062, Q0V882, Q5R7R1, Q5XDQ1, Q8P2D4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1837 predictions. Top by Δscore:

Variant	Effect	Δscore
12:49889099:AGACT:A	donor_loss	1.0000
12:49889100:GACTC:G	donor_loss	1.0000
12:49889101:ACTC:A	donor_loss	1.0000
12:49889102:CTCAC:C	donor_loss	1.0000
12:49889103:TCA:T	donor_loss	1.0000
12:49889104:CA:C	donor_loss	1.0000
12:49889105:A:AC	donor_gain	1.0000
12:49889106:C:CA	donor_loss	1.0000
12:49889106:C:CC	donor_gain	1.0000
12:49889106:CAT:C	donor_gain	1.0000
12:49889106:CATA:C	donor_gain	1.0000
12:49889198:TCGAA:T	acceptor_gain	1.0000
12:49889199:CGAA:C	acceptor_gain	1.0000
12:49889199:CGAAC:C	acceptor_gain	1.0000
12:49889200:GAA:G	acceptor_gain	1.0000
12:49889201:AA:A	acceptor_gain	1.0000
12:49889203:C:CA	acceptor_loss	1.0000
12:49889203:C:CC	acceptor_gain	1.0000
12:49891113:CA:C	acceptor_gain	1.0000
12:49891115:C:CC	acceptor_gain	1.0000
12:49897029:A:AC	donor_gain	1.0000
12:49897030:C:CC	donor_gain	1.0000
12:49897983:TTA:T	donor_loss	1.0000
12:49897984:TACC:T	donor_loss	1.0000
12:49897985:A:T	donor_loss	1.0000
12:49897986:CCTTT:C	donor_gain	1.0000
12:49898087:CTGC:C	acceptor_gain	1.0000
12:49901222:T:TA	donor_gain	1.0000
12:49870654:C:CC	acceptor_gain	0.9900
12:49870663:G:C	acceptor_gain	0.9900

AlphaMissense

2043 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:49889516:A:G	C206R	0.999
12:49890129:C:T	G184E	0.999
12:49890130:C:A	G184W	0.999
12:49889493:G:C	S213R	0.998
12:49889493:G:T	S213R	0.998
12:49889495:T:G	S213R	0.998
12:49890130:C:G	G184R	0.998
12:49890130:C:T	G184R	0.998
12:49897996:A:C	F102L	0.998
12:49897996:A:T	F102L	0.998
12:49897998:A:G	F102L	0.998
12:49870580:C:T	G292E	0.997
12:49887406:C:G	G261R	0.997
12:49887406:C:T	G261R	0.997
12:49890693:A:G	L172P	0.997
12:49870532:A:G	L308P	0.996
12:49870574:A:G	L294P	0.996
12:49870649:A:G	L269P	0.996
12:49887392:A:C	F265L	0.996
12:49887392:A:T	F265L	0.996
12:49887394:A:G	F265L	0.996
12:49887405:C:T	G261E	0.996
12:49889143:G:C	S237R	0.996
12:49889143:G:T	S237R	0.996
12:49889145:T:G	S237R	0.996
12:49889540:A:G	C198R	0.996
12:49890704:G:C	N168K	0.996
12:49890704:G:T	N168K	0.996
12:49897558:A:G	L114P	0.996
12:49870581:C:G	G292R	0.995

dbSNP variants (sampled 300 via entrez): RS1000087771 (12:49905839 C>T), RS1000116073 (12:49886852 TG>T,TGG), RS1000129814 (12:49867472 G>A), RS1000165773 (12:49890303 A>T), RS1000185899 (12:49899679 G>T), RS1000367438 (12:49868477 C>T), RS1000410283 (12:49879646 G>A), RS1000420384 (12:49873352 G>C,T), RS1000529560 (12:49901402 C>A), RS1000753928 (12:49869517 C>T), RS1000794568 (12:49880539 T>A,C), RS1000797742 (12:49884696 C>A,T), RS1000801997 (12:49884346 T>C), RS1000821485 (12:49868224 G>T), RS1000926990 (12:49900599 G>C)

Disease associations

OMIM: gene MIM:604306 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

54 associations (top):

Study	Trait	p-value
GCST000296_11	Body mass index	1.000000e-07
GCST000299_3	Weight	2.000000e-07
GCST000427_6	Waist circumference	8.000000e-07
GCST000830_4	Body mass index	2.000000e-17
GCST001636_1	Obsessive-compulsive disorder	5.000000e-07
GCST003177_31	Childhood body mass index	2.000000e-18
GCST003985_5	Breast size	1.000000e-07
GCST003993_4	Menarche (age at onset)	1.000000e-08
GCST004066_116	Hip circumference	2.000000e-15
GCST004066_13	Hip circumference	8.000000e-13
GCST004495_34	BMI (adjusted for smoking behaviour)	3.000000e-08
GCST004495_35	BMI (adjusted for smoking behaviour)	4.000000e-16
GCST004495_36	BMI (adjusted for smoking behaviour)	7.000000e-10
GCST004497_133	Body mass index (joint analysis main effects and smoking interaction)	3.000000e-15
GCST004497_134	Body mass index (joint analysis main effects and smoking interaction)	3.000000e-10
GCST004497_135	Body mass index (joint analysis main effects and smoking interaction)	6.000000e-07
GCST004498_8	BMI in smokers	1.000000e-06
GCST004499_30	BMI in non-smokers	4.000000e-06
GCST004499_31	BMI in non-smokers	4.000000e-11
GCST004499_32	BMI in non-smokers	3.000000e-07
GCST004557_103	Body mass index	6.000000e-12
GCST004557_204	Body mass index	2.000000e-11
GCST004557_21	Body mass index	5.000000e-16
GCST004557_233	Body mass index	9.000000e-15
GCST004557_65	Body mass index	1.000000e-06
GCST004558_100	Body mass index (joint analysis main effects and physical activity interaction)	4.000000e-11
GCST004558_136	Body mass index (joint analysis main effects and physical activity interaction)	4.000000e-06
GCST004558_153	Body mass index (joint analysis main effects and physical activity interaction)	6.000000e-14
GCST004558_174	Body mass index (joint analysis main effects and physical activity interaction)	2.000000e-11
GCST004558_18	Body mass index (joint analysis main effects and physical activity interaction)	1.000000e-15

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004338	body weight
EFO:0004703	age at menarche
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0007041	obese body mass index status
EFO:0004531	urate measurement
EFO:0009819	comparative body size at age 10, self-reported

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs706795	FAIM2		0.00	0

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
beauvericin	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
beta-lapachone	decreases expression	1
afimoxifene	decreases expression	1
perfluorooctanoic acid	increases expression	1
1,1-bis(4-hydroxyphenyl)-2-phenylbut-1-ene	decreases expression	1
cordycepin	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
rofecoxib	decreases expression	1
nickel acetate	affects expression	1
abrine	decreases expression	1
bisphenol S	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Allergens	decreases abundance, increases expression, affects cotreatment	1
Arsenic	decreases methylation	1
Vehicle Emissions	affects cotreatment, decreases abundance, increases expression	1
Estradiol	decreases expression	1
Ozone	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	increases methylation	1
beta Carotene	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1
Nanotubes, Carbon	decreases expression	1

Clinical trials (associated diseases)

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