ITFG1

Summary

ITFG1 (integrin alpha FG-GAP repeat containing 1, HGNC:30697) is a protein-coding gene on chromosome 16q12.1, encoding T-cell immunomodulatory protein (Q8TB96). Modulator of T-cell function.

Located in extracellular exosome.

Source: NCBI Gene 81533 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 105 total — 1 pathogenic
• MANE Select transcript: NM_030790

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30697
Approved symbol	ITFG1
Name	integrin alpha FG-GAP repeat containing 1
Location	16q12.1
Locus type	gene with protein product
Status	Approved
Aliases	CDA08, TIP, LNKN-1
Ensembl gene	ENSG00000129636
Ensembl biotype	protein_coding
OMIM	611803
Entrez	81533

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 14 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000320640, ENST00000537184, ENST00000542691, ENST00000544001, ENST00000563350, ENST00000563730, ENST00000564825, ENST00000565262, ENST00000565940, ENST00000567957, ENST00000568047, ENST00000569551, ENST00000868205, ENST00000868206, ENST00000868207, ENST00000868208, ENST00000868209, ENST00000868210, ENST00000868211, ENST00000868212, ENST00000943052

RefSeq mRNA: 2 — MANE Select: NM_030790 NM_001305002, NM_030790

CCDS: CCDS10728, CCDS76862

Canonical transcript exons

ENST00000320640 — 18 exons

Exon	Start	End
ENSE00001404558	47460838	47461063
ENSE00003481551	47313729	47313823
ENSE00003500906	47454013	47454158
ENSE00003516666	47161750	47161832
ENSE00003521396	47237965	47238008
ENSE00003536868	47258632	47258740
ENSE00003545688	47311240	47311412
ENSE00003572210	47158873	47158990
ENSE00003579174	47154391	47155778
ENSE00003584453	47452733	47452790
ENSE00003590392	47162540	47162664
ENSE00003607924	47218868	47218946
ENSE00003630716	47375876	47375940
ENSE00003639225	47365788	47365869
ENSE00003665139	47260545	47260695
ENSE00003670902	47459103	47459175
ENSE00003691955	47428804	47428898
ENSE00003784160	47451396	47451470

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 98.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.4827 / max 226.3850, expressed in 1815 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157242	19.2336	1807
157244	4.1663	1585
157245	3.6993	1592
157246	1.4624	1070
157243	0.5638	294
157241	0.3014	93
157239	0.0558	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.30	gold quality
cortical plate	UBERON:0005343	97.97	gold quality
endothelial cell	CL:0000115	97.70	gold quality
palpebral conjunctiva	UBERON:0001812	97.66	gold quality
germinal epithelium of ovary	UBERON:0001304	97.16	gold quality
decidua	UBERON:0002450	97.10	gold quality
prefrontal cortex	UBERON:0000451	97.04	gold quality
islet of Langerhans	UBERON:0000006	96.79	gold quality
tibia	UBERON:0000979	96.79	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.66	gold quality
stromal cell of endometrium	CL:0002255	96.35	gold quality
rectum	UBERON:0001052	96.33	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.31	gold quality
visceral pleura	UBERON:0002401	96.27	gold quality
primary visual cortex	UBERON:0002436	95.99	gold quality
descending thoracic aorta	UBERON:0002345	95.84	gold quality
heart right ventricle	UBERON:0002080	95.82	gold quality
gall bladder	UBERON:0002110	95.81	gold quality
parietal pleura	UBERON:0002400	95.65	gold quality
right adrenal gland cortex	UBERON:0035827	95.65	gold quality
superior frontal gyrus	UBERON:0002661	95.60	gold quality
right adrenal gland	UBERON:0001233	95.58	gold quality
left adrenal gland	UBERON:0001234	95.58	gold quality
orbitofrontal cortex	UBERON:0004167	95.54	gold quality
adrenal gland	UBERON:0002369	95.50	gold quality
frontal cortex	UBERON:0001870	95.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.45	gold quality
gingival epithelium	UBERON:0001949	95.42	gold quality
pleura	UBERON:0000977	95.41	gold quality
calcaneal tendon	UBERON:0003701	95.38	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

98 targeting ITFG1, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481

Literature-anchored findings (GeneRIF, showing 2)

• Alterations in the cellular levels of TIP influence the phosphorylation state of a specific protein substrate of ataxia-telangiectasia mutated (ATM)/ATM- and Rad3-related (ATR) kinases. (PMID:17384681)
• The interaction between RUVBL1 and ITFG1 is required for breast cancer cell collective invasion and progression. (PMID:28341484)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	itfg1	ENSDARG00000075584
mus_musculus	Itfg1	ENSMUSG00000031703
rattus_norvegicus	Itfg1	ENSRNOG00000015843
drosophila_melanogaster	CG7739	FBGN0036509
caenorhabditis_elegans		WBGENE00014023

Protein

Protein identifiers

T-cell immunomodulatory protein — Q8TB96 (reviewed: Q8TB96)

Alternative names: Integrin-alpha FG-GAP repeat-containing protein 1, Linkin

All UniProt accessions (5): Q8TB96, F5GXC5, H3BQ64, H3BUJ1, I3L1X7

UniProt curated annotations — full annotation on UniProt →

Function. Modulator of T-cell function. Has a protective effect in graft versus host disease model.

Subunit / interactions. Interacts with RUVBL1, RUVBL2 and alpha-tubulin.

Subcellular location. Secreted. Membrane.

Tissue specificity. Ubiquitously expressed.

Similarity. Belongs to the TIP family.

RefSeq proteins (2): NP_001291931, NP_110417* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013517	FG-GAP	Repeat
IPR024881	Tip	Family
IPR028994	Integrin_alpha_N	Homologous_superfamily
IPR057089	C2_TIP	Domain

Pfam: PF13517, PF23122

UniProt features (16 total): glycosylation site 12, signal peptide 1, chain 1, transmembrane region 1, repeat 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TB96-F1	89.87	0.76

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 (12): 188, 226, 243, 353, 371, 482, 36, 95, 139, 146, 151, 176

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 126 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, PAX4_01, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, NRF2_01, MCCLUNG_COCAINE_REWARD_5D, ACEVEDO_LIVER_CANCER_UP, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B, HAMAI_APOPTOSIS_VIA_TRAIL_UP, ELK1_02, HORIUCHI_WTAP_TARGETS_UP, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (4): plasma membrane (GO:0005886), extracellular exosome (GO:0070062), extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

1554 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITFG1	TIPIN	Q9BVW5	769
ITFG1	LCK	P06239	577
ITFG1	RTKN	Q9BST9	550
ITFG1	TMEM179B	Q7Z7N9	524
ITFG1	TAX1BP3	O14907	507
ITFG1	PHKB	Q93100	503
ITFG1	CHTF18	Q8WVB6	493
ITFG1	DENND5B	Q6ZUT9	471
ITFG1	MTCL2	O94964	442
ITFG1	LY6G6C	O95867	440
ITFG1	SLC24A3	Q9HC58	433
ITFG1	CNTN2	P78432	416
ITFG1	ZMAT4	Q9H898	400
ITFG1	LNPK	Q9C0E8	395
ITFG1	TM7SF3	Q9NS93	394

IntAct

98 interactions, top by confidence:

A	B	Type	Score
IL13RA2	CHEK1	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
CLEC4A	SEMA7A	psi-mi:“MI:0914”(association)	0.530
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
VAMP5	NBAS	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
AMHR2	FKBP5	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
TMEM106A	B4GALT3	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
CDC73	ITFG1	psi-mi:“MI:0915”(physical association)	0.370
ITFG1	FAM118B	psi-mi:“MI:0915”(physical association)	0.370
HMOX2	ITFG1	psi-mi:“MI:0915”(physical association)	0.370
ITFG1	MRPL44	psi-mi:“MI:0915”(physical association)	0.370
NUDT3	ITFG1	psi-mi:“MI:0915”(physical association)	0.370
SERBP1	ITFG1	psi-mi:“MI:0915”(physical association)	0.370
TAF1D	ITFG1	psi-mi:“MI:0915”(physical association)	0.370
ITFG1	TNFRSF14	psi-mi:“MI:0915”(physical association)	0.370
		psi-mi:“MI:0914”(association)	0.350
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (569): ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-MS), ITFG1 (Affinity Capture-RNA), ITFG1 (Affinity Capture-MS), ITFG1 (Synthetic Lethality), SDF2L1 (Affinity Capture-MS), CANX (Affinity Capture-MS)

ESM2 similar proteins: B6JY29, G5ED65, H2KZU7, O01811, O16715, O44386, O45657, O45879, O59759, O61460, O64758, P30639, P34389, P46555, P47014, P86956, P90754, P90755, P91550, Q03600, Q04833, Q09216, Q09417, Q10659, Q18253, Q18331, Q18600, Q19127, Q19187, Q19617, Q19981, Q23316, Q24247, Q25410, Q5QQ52, Q60PR7, Q626H5, Q754Q4, Q7JKY3, Q7RRM4

Diamond homologs: Q8R4E1, Q8TB96, Q95KC8, Q99KW9, Q8I3H7, P30639, Q7RRM4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 132 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
adaptive immune response	10	7.5×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	82
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
688122	GRCh37/hg19 16q12.1(chr16:47258287-47662546)x1	Pathogenic

SpliceAI

4108 predictions. Top by Δscore:

Variant	Effect	Δscore
16:47161829:TAGA:T	acceptor_gain	1.0000
16:47161833:C:CC	acceptor_gain	1.0000
16:47162662:CAG:C	acceptor_gain	1.0000
16:47218861:GTCTT:G	donor_loss	1.0000
16:47218862:TCTTA:T	donor_loss	1.0000
16:47218863:CTTA:C	donor_loss	1.0000
16:47218864:TTA:T	donor_loss	1.0000
16:47218865:TA:T	donor_loss	1.0000
16:47218866:A:AG	donor_loss	1.0000
16:47218867:CCTG:C	donor_loss	1.0000
16:47218942:AAGGG:A	acceptor_gain	1.0000
16:47218943:AGGG:A	acceptor_gain	1.0000
16:47218944:GGG:G	acceptor_gain	1.0000
16:47218945:GG:G	acceptor_gain	1.0000
16:47218946:GCT:G	acceptor_loss	1.0000
16:47218947:C:A	acceptor_loss	1.0000
16:47218947:C:CC	acceptor_gain	1.0000
16:47218948:T:A	acceptor_loss	1.0000
16:47237963:A:AC	donor_gain	1.0000
16:47237964:C:CC	donor_gain	1.0000
16:47238009:C:CC	acceptor_gain	1.0000
16:47260543:A:AC	donor_gain	1.0000
16:47260544:C:CC	donor_gain	1.0000
16:47260544:CAT:C	donor_gain	1.0000
16:47311237:TACC:T	donor_loss	1.0000
16:47311238:A:AC	donor_gain	1.0000
16:47311238:A:C	donor_loss	1.0000
16:47311238:ACCTT:A	donor_gain	1.0000
16:47311239:C:CC	donor_gain	1.0000
16:47311239:CCTT:C	donor_gain	1.0000

AlphaMissense

4061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:47155731:A:C	F609L	1.000
16:47155731:A:T	F609L	1.000
16:47155732:A:C	F609C	1.000
16:47155733:A:G	F609L	1.000
16:47155737:A:C	F607L	1.000
16:47155737:A:T	F607L	1.000
16:47155738:A:C	F607C	1.000
16:47155738:A:G	F607S	1.000
16:47155739:A:G	F607L	1.000
16:47155756:C:G	R601P	1.000
16:47158920:A:G	C578R	1.000
16:47158931:A:G	L574P	1.000
16:47158931:A:T	L574H	1.000
16:47158940:G:T	A571D	1.000
16:47158976:A:G	L559P	1.000
16:47158987:C:A	W555C	1.000
16:47158987:C:G	W555C	1.000
16:47158989:A:G	W555R	1.000
16:47158989:A:T	W555R	1.000
16:47161780:A:T	V544D	1.000
16:47161786:A:G	L542P	1.000
16:47161792:G:A	S540F	1.000
16:47161793:A:G	S540P	1.000
16:47161798:G:T	P538Q	1.000
16:47161799:G:A	P538S	1.000
16:47161799:G:T	P538T	1.000
16:47161801:A:G	I537T	1.000
16:47161801:A:T	I537N	1.000
16:47162585:A:C	F511L	1.000
16:47162585:A:T	F511L	1.000

dbSNP variants (sampled 300 via entrez): RS1000014357 (16:47315865 A>T), RS1000025616 (16:47341959 G>T), RS1000035660 (16:47158119 G>A), RS1000050951 (16:47183444 G>A,C), RS1000069112 (16:47243823 G>A), RS1000077929 (16:47342332 T>C), RS1000089556 (16:47330916 A>G), RS1000115988 (16:47178211 C>G,T), RS1000118745 (16:47286619 G>A), RS1000130421 (16:47173767 G>A,C,T), RS1000144621 (16:47239289 C>G), RS1000162716 (16:47319675 C>T), RS1000167415 (16:47229291 A>T), RS1000193090 (16:47365011 C>T), RS1000200702 (16:47410955 C>T)

Disease associations

OMIM: gene MIM:611803 | 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

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	decreases expression, affects cotreatment	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	increases methylation	1
abrine	decreases expression	1
picoxystrobin	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	decreases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	decreases methylation	1
Rotenone	increases expression	1
Theophylline	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1UT	Abcam HeLa ITFG1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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