IFI27L2

Summary

IFI27L2 (interferon alpha inducible protein 27 like 2, HGNC:19753) is a protein-coding gene on chromosome 14q32.12, encoding Interferon alpha-inducible protein 27-like protein 2 (Q9H2X8). Plays a role in the apoptotic process and has a pro-apoptotic activity.

Predicted to enable molecular adaptor activity. Involved in apoptotic process. Located in mitochondrial membrane.

Source: NCBI Gene 83982 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 31 total — 1 pathogenic
• MANE Select transcript: NM_032036

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19753
Approved symbol	IFI27L2
Name	interferon alpha inducible protein 27 like 2
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Aliases	TLH29
Ensembl gene	ENSG00000119632
Ensembl biotype	protein_coding
OMIM	611319
Entrez	83982

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 4 retained_intron

ENST00000238609, ENST00000553601, ENST00000554909, ENST00000555558, ENST00000556552, ENST00000556727, ENST00000940074, ENST00000940075, ENST00000940076, ENST00000940077, ENST00000940078, ENST00000940079

RefSeq mRNA: 1 — MANE Select: NM_032036 NM_032036

CCDS: CCDS9920

Canonical transcript exons

ENST00000238609 — 4 exons

Exon	Start	End
ENSE00001098365	94129558	94129604
ENSE00003483103	94128514	94128675
ENSE00003617045	94127781	94127992
ENSE00003643101	94129262	94129291

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.7417 / max 212.5914, expressed in 1773 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144679	36.8553	1772
144680	1.2083	803
144677	0.7155	456
144678	0.6472	350
144681	0.3154	167

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	98.87	gold quality
substantia nigra	UBERON:0002038	98.80	gold quality
hypothalamus	UBERON:0001898	98.68	gold quality
temporal lobe	UBERON:0001871	98.55	gold quality
amygdala	UBERON:0001876	98.55	gold quality
Ammon’s horn	UBERON:0001954	98.33	gold quality
right adrenal gland	UBERON:0001233	98.19	gold quality
right adrenal gland cortex	UBERON:0035827	98.14	gold quality
left adrenal gland cortex	UBERON:0035825	97.93	gold quality
left adrenal gland	UBERON:0001234	97.88	gold quality
nucleus accumbens	UBERON:0001882	97.82	gold quality
anterior cingulate cortex	UBERON:0009835	97.82	gold quality
apex of heart	UBERON:0002098	97.71	gold quality
putamen	UBERON:0001874	97.63	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.58	gold quality
pituitary gland	UBERON:0000007	97.39	gold quality
caudate nucleus	UBERON:0001873	97.34	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.31	gold quality
monocyte	CL:0000576	97.25	gold quality
leukocyte	CL:0000738	97.14	gold quality
adenohypophysis	UBERON:0002196	97.13	gold quality
tibial nerve	UBERON:0001323	97.12	gold quality
ascending aorta	UBERON:0001496	97.11	gold quality
thoracic aorta	UBERON:0001515	97.11	gold quality
brain	UBERON:0000955	97.08	gold quality
cerebral cortex	UBERON:0000956	97.05	gold quality
adrenal gland	UBERON:0002369	97.05	gold quality
right frontal lobe	UBERON:0002810	96.97	gold quality
right atrium auricular region	UBERON:0006631	96.97	gold quality
left ovary	UBERON:0002119	96.96	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.94
E-CURD-112	yes	5.81
E-HCAD-10	yes	4.36
E-GEOD-125970	no	8.69

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (3): IFI6 (ENSG00000126709), IFI27L1 (ENSG00000165948), IFI27 (ENSG00000165949)

Protein

Protein identifiers

Interferon alpha-inducible protein 27-like protein 2 — Q9H2X8 (reviewed: Q9H2X8)

Alternative names: Interferon-stimulated gene 12b protein, Protein TLH29, pIFI27-like protein

All UniProt accessions (2): Q9H2X8, A0A0B4J270

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the apoptotic process and has a pro-apoptotic activity.

Subcellular location. Mitochondrion membrane.

Induction. Not up-regulated by type-I interferon.

Similarity. Belongs to the IFI6/IFI27 family.

RefSeq proteins (1): NP_114425* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009311	IFI6/IFI27-like	Family
IPR038213	IFI6/IFI27-like_sf	Homologous_superfamily

Pfam: PF06140

UniProt features (5 total): transmembrane region 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2X8-F1	54.73	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 145 (showing top): HUMMERICH_MALIGNANT_SKIN_TUMOR_DN, BOYLAN_MULTIPLE_MYELOMA_D_DN, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, MARTINEZ_RB1_TARGETS_UP, GOBP_APOPTOTIC_SIGNALING_PATHWAY, INGRAM_SHH_TARGETS_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, MARTINEZ_RB1_AND_TP53_TARGETS_UP, HAN_JNK_SINGALING_UP, chr14q32, NUYTTEN_EZH2_TARGETS_DN, CASTELLANO_NRAS_TARGETS_UP, COLINA_TARGETS_OF_4EBP1_AND_4EBP2

GO Biological Process (2): apoptotic process (GO:0006915), intrinsic apoptotic signaling pathway (GO:0097193)

GO Molecular Function (1): molecular adaptor activity (GO:0060090)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial membrane (GO:0031966), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic signaling pathway	2
programmed cell death	1
execution phase of apoptosis	1
intracellular signal transduction	1
molecular_function	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

690 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFI27L2	RSAD2	Q8WXG1	405
IFI27L2	IFIT5	Q13325	394
IFI27L2	IFITM10	A6NMD0	365
IFI27L2	TMEM168	Q9H0V1	327
IFI27L2	ISG15	P05161	323
IFI27L2	TLCD1	Q96CP7	318
IFI27L2	IFITM2	Q01629	316
IFI27L2	OCEL1	Q9H607	314
IFI27L2	IRF1	P10914	314
IFI27L2	IFIH1	Q9BYX4	313
IFI27L2	GOLGB1	Q14789	312
IFI27L2	A0A2U3TZT1	A0A2U3TZT1	310
IFI27L2	IFI44L	Q53G44	305
IFI27L2	IFITM3	Q01628	301
IFI27L2	MX1	P20591	294

IntAct

7 interactions, top by confidence:

A	B	Type	Score
FCN1	IFI27L2	psi-mi:“MI:0915”(physical association)	0.370
TFAP2A	IFI27L2	psi-mi:“MI:0915”(physical association)	0.370
TFAP2C	IFI27L2	psi-mi:“MI:0915”(physical association)	0.370
IFI27L2	TFAP2C	psi-mi:“MI:0915”(physical association)	0.370
CELF1	IFI27L2	psi-mi:“MI:0915”(physical association)	0.000
	IFI27L2	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A0H2XIV9, A0L9X3, B0KTG9, B1I892, B5E1Z4, B8ZNI6, C0HL68, C1C9E8, C1CGA6, C1CMJ2, C1CTB2, O26106, O31557, P07579, P09912, P0A3K0, P0A3K1, P0C8T8, P0DTW2, P0DY15, P19407, P34306, P34327, P34677, P40843, P58316, P67293, P67294, P75617, P77354, P80967, P83313, P84841, P86018, P86155, Q04IS6, Q18EC3, Q24JY7, Q28808, Q2G179

Diamond homologs: P09912, P40305, Q24JY7, Q28808, Q6IED8, Q8R412, Q8VC49, Q96BM0, Q9H2X8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	19
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	Pathogenic

SpliceAI

351 predictions. Top by Δscore:

Variant	Effect	Δscore
14:94128671:CAGGG:C	acceptor_gain	1.0000
14:94128673:GGG:G	acceptor_gain	1.0000
14:94128674:GG:G	acceptor_gain	1.0000
14:94128675:GCTG:G	acceptor_loss	1.0000
14:94128676:C:CA	acceptor_loss	1.0000
14:94128676:C:CC	acceptor_gain	1.0000
14:94129556:A:AC	donor_gain	1.0000
14:94129557:C:CC	donor_gain	1.0000
14:94129557:CT:C	donor_gain	1.0000
14:94129557:CTCAT:C	donor_gain	1.0000
14:94129561:T:C	donor_gain	1.0000
14:94128507:CACT:C	donor_loss	0.9900
14:94128508:ACTTA:A	donor_loss	0.9900
14:94128509:CTTA:C	donor_loss	0.9900
14:94128510:TTA:T	donor_loss	0.9900
14:94128511:T:TG	donor_loss	0.9900
14:94128512:A:AC	donor_gain	0.9900
14:94128512:AC:A	donor_gain	0.9900
14:94128513:C:CC	donor_gain	0.9900
14:94128513:C:CT	donor_loss	0.9900
14:94128513:CC:C	donor_gain	0.9900
14:94128513:CCCA:C	donor_gain	0.9900
14:94128672:AGGG:A	acceptor_gain	0.9900
14:94128675:GCTGT:G	acceptor_gain	0.9900
14:94129554:TCACT:T	donor_loss	0.9900
14:94129555:CACTC:C	donor_loss	0.9900
14:94129556:ACT:A	donor_gain	0.9900
14:94129557:C:A	donor_loss	0.9900
14:94129557:CTC:C	donor_gain	0.9900
14:94129557:CTCA:C	donor_gain	0.9900

AlphaMissense

809 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:94128629:G:C	F28L	0.994
14:94128629:G:T	F28L	0.994
14:94128631:A:G	F28L	0.994
14:94128539:G:C	S58R	0.980
14:94128539:G:T	S58R	0.980
14:94128541:T:G	S58R	0.980
14:94128630:A:G	F28S	0.978
14:94128597:G:T	A39E	0.969
14:94128630:A:C	F28C	0.966
14:94128634:C:G	G27R	0.963
14:94128584:C:A	M43I	0.953
14:94128584:C:G	M43I	0.953
14:94128584:C:T	M43I	0.953
14:94128603:G:A	S37F	0.949
14:94128521:C:A	Q64H	0.941
14:94128521:C:G	Q64H	0.941
14:94129265:C:G	G12R	0.938
14:94129265:C:T	G12R	0.938
14:94128531:G:T	A61D	0.932
14:94128573:G:T	A47D	0.932
14:94128633:C:T	G27D	0.929
14:94127944:C:T	G83E	0.928
14:94128525:A:G	L63P	0.928
14:94128634:C:A	G27C	0.928
14:94128615:A:G	I33T	0.927
14:94128603:G:T	S37Y	0.925
14:94128615:A:T	I33N	0.924
14:94128520:A:G	S65P	0.922
14:94128633:C:A	G27V	0.919
14:94128645:A:T	L23H	0.919

dbSNP variants (sampled 300 via entrez): RS1000319698 (14:94131205 C>A), RS1000604153 (14:94129832 C>G), RS1001074417 (14:94129380 G>A,T), RS1001845754 (14:94129740 GCTTGA>G), RS1002440470 (14:94128740 C>G), RS1002752441 (14:94128334 C>A,G), RS1003022745 (14:94129824 A>C), RS1004738859 (14:94128791 A>G), RS1004849379 (14:94129680 G>A,C,T), RS1006112101 (14:94130858 G>A,T), RS1006963403 (14:94130651 AT>A,ATT), RS1007272932 (14:94130344 C>G,T), RS1007420959 (14:94129533 A>G), RS1009284928 (14:94127953 G>A), RS1009290828 (14:94129348 G>A,T)

Disease associations

OMIM: gene MIM:611319 | 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

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	4
sodium arsenite	increases expression	2
Cisplatin	affects expression, increases expression	2
Estradiol	decreases expression	2
Tetrachlorodibenzodioxin	increases expression	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
methylparaben	decreases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	decreases expression	1
Irinotecan	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Doxorubicin	increases expression	1
Fluorouracil	increases expression, affects cotreatment	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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