TIGD1

Summary

TIGD1 (tigger transposable element derived 1, HGNC:14523) is a protein-coding gene on chromosome 2q37.1, encoding Tigger transposable element-derived protein 1 (Q96MW7).

The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known.

Source: NCBI Gene 200765 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 31 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_145702

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14523
Approved symbol	TIGD1
Name	tigger transposable element derived 1
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Aliases	EEYORE
Ensembl gene	ENSG00000221944
Ensembl biotype	protein_coding
OMIM	612972
Entrez	200765

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000408957

RefSeq mRNA: 1 — MANE Select: NM_145702 NM_145702

CCDS: CCDS2495

Canonical transcript exons

ENST00000408957 — 1 exons

Exon	Start	End
ENSE00001583290	232543883	232550557

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 79.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3696 / max 59.3320, expressed in 1542 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34565	6.3696	1542
34564	0.6770	406
34566	0.4988	239

Top tissues by expression

244 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	79.08	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.20	gold quality
pigmented layer of retina	UBERON:0001782	76.64	gold quality
cortical plate	UBERON:0005343	75.58	gold quality
Brodmann (1909) area 23	UBERON:0013554	74.06	gold quality
ganglionic eminence	UBERON:0004023	73.58	gold quality
ventricular zone	UBERON:0003053	72.72	gold quality
middle temporal gyrus	UBERON:0002771	72.47	gold quality
primary visual cortex	UBERON:0002436	71.90	gold quality
gastrocnemius	UBERON:0001388	71.55	gold quality
muscle of leg	UBERON:0001383	71.26	gold quality
tendon	UBERON:0000043	69.47	gold quality
granulocyte	CL:0000094	69.26	gold quality
thymus	UBERON:0002370	68.67	gold quality
caput epididymis	UBERON:0004358	68.58	gold quality
hindlimb stylopod muscle	UBERON:0004252	68.50	gold quality
biceps brachii	UBERON:0001507	68.31	gold quality
entorhinal cortex	UBERON:0002728	68.29	gold quality
adrenal tissue	UBERON:0018303	68.16	gold quality
calcaneal tendon	UBERON:0003701	68.07	gold quality
corpus epididymis	UBERON:0004359	67.72	gold quality
right uterine tube	UBERON:0001302	67.60	gold quality
stromal cell of endometrium	CL:0002255	67.52	gold quality
monocyte	CL:0000576	67.29	gold quality
leukocyte	CL:0000738	67.23	gold quality
left ovary	UBERON:0002119	67.22	gold quality
ovary	UBERON:0000992	67.20	gold quality
cauda epididymis	UBERON:0004360	67.12	gold quality
oviduct epithelium	UBERON:0004804	66.62	gold quality
palpebral conjunctiva	UBERON:0001812	66.22	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7381	no	201.70
E-ANND-3	no	2.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting TIGD1, 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-338-5P	99.92	72.34	2951
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-1183	98.75	67.10	1116
HSA-MIR-634	97.74	67.11	818

Literature-anchored findings (GeneRIF, showing 3)

• inding provides evidence that TIGD1 involve in the cell cycle. These findings provide fresh insight into our understanding of TEs in cancers. Next, the detailed mechanism of TIGD1 needs to be studied in the future. (PMID:30548305)
• Exploring Cancer Dependency Map genes and immune subtypes in colon cancer, in which TIGD1 contributes to colon cancer progression. (PMID:37441804)
• MiR-137 mediated high expression of TIGD1 promotes migration, invasion, and suppresses apoptosis of lung adenocarcinoma. (PMID:39173230)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:rp71-1d10.8	ENSDARG00000099345
danio_rerio		ENSDARG00000099590
danio_rerio		ENSDARG00000101994
danio_rerio		ENSDARG00000103972

Paralogs (12): CENPB (ENSG00000125817), TIGD7 (ENSG00000140993), POGK (ENSG00000143157), POGZ (ENSG00000143442), TIGD6 (ENSG00000164296), TIGD4 (ENSG00000169989), TIGD3 (ENSG00000173825), TIGD5 (ENSG00000179886), TIGD2 (ENSG00000180346), JRKL (ENSG00000183340), JRK (ENSG00000234616), (ENSG00000293642)

Protein

Protein identifiers

Tigger transposable element-derived protein 1 — Q96MW7 (reviewed: Q96MW7)

All UniProt accessions (1): Q96MW7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Similarity. Belongs to the tigger transposable element derived protein family.

RefSeq proteins (1): NP_663748* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004875	DDE_SF_endonuclease_dom	Domain
IPR006600	HTH_CenpB_DNA-bd_dom	Domain
IPR007889	HTH_Psq	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR036397	RNaseH_sf	Homologous_superfamily
IPR050863	CenT-Element_Derived	Family

Pfam: PF03184, PF03221, PF04218

UniProt features (10 total): domain 3, DNA-binding region 2, sequence conflict 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MW7-F1	78.62	0.35

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 63 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, DOUGLAS_BMI1_TARGETS_DN, ELK1_02, ZWANG_DOWN_BY_2ND_EGF_PULSE, STK33_NOMO_DN, ALKBH3_TARGET_GENES, DIDO1_TARGET_GENES, ELF2_TARGET_GENES, HHEX_TARGET_GENES, HMG20B_TARGET_GENES, KAT2A_TARGET_GENES, NAB2_TARGET_GENES, PRKDC_TARGET_GENES, RLF_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (3): DNA binding (GO:0003677), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
nucleic acid binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

308 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TIGD1	INTS2	Q9H0H0	528
TIGD1	CHRNG	P07510	468
TIGD1	EIF4E2	O60573	453
TIGD1	PGBD4	Q96DM1	430
TIGD1	ZNF514	Q96K75	418
TIGD1	UBALD2	Q8IYN6	399
TIGD1	POGK	Q9P215	398
TIGD1	TIGD7	Q6NT04	378
TIGD1	NAIF1	Q69YI7	375
TIGD1	HARBI1	Q96MB7	373
TIGD1	CREG2	Q8IUH2	370
TIGD1	PNMA6A	P0CW24	369
TIGD1	KIF2A	O00139	368
TIGD1	ZBTB47	Q9UFB7	365
TIGD1	NOL12	Q9UGY1	356

IntAct

26 interactions, top by confidence:

A	B	Type	Score
TIGD1	APBB2	psi-mi:“MI:0915”(physical association)	0.560
TIGD1		psi-mi:“MI:0915”(physical association)	0.560
HTT	TIGD1	psi-mi:“MI:0915”(physical association)	0.560
RETREG1	TIGD1	psi-mi:“MI:0915”(physical association)	0.370
ZDHHC17	TIGD1	psi-mi:“MI:0915”(physical association)	0.370
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
CALM2	MYO1C	psi-mi:“MI:0914”(association)	0.350
CALM3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MIF	BLTP3B	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): TIGD1 (Two-hybrid), TIGD1 (Reconstituted Complex), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-MS), ANXA5 (Cross-Linking-MS (XL-MS)), UNC45A (Cross-Linking-MS (XL-MS)), TIGD1 (Affinity Capture-MS), TIGD1 (Affinity Capture-RNA)

ESM2 similar proteins: A4IFA3, A4Z943, A4Z944, A4Z945, B2RRL2, D3Z4R1, F1NQJ3, O43422, O60108, O60290, O96006, P08770, P0CF97, P12258, P16320, P34601, Q09772, Q0VBL1, Q17RP2, Q3EBC8, Q3YK19, Q49AG3, Q4R6P1, Q4W5G0, Q5SVZ6, Q5SXJ3, Q6EKJ0, Q6NT04, Q6R2W3, Q7L775, Q7M3K2, Q86UP8, Q8BUZ3, Q8IY51, Q8IZ13, Q8TBB0, Q8TCP9, Q8TDG4, Q8VEH5, Q95M72

Diamond homologs: B2RD01, B2RRL2, Q96MW7, Q9Y4A0, O75564, Q0VBL1, Q4W5G0, Q60976, Q6NT04, Q17RP2, Q8BUZ3

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	1
Uncertain significance	18
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
487641	NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)	Pathogenic
2831485	NM_005199.5(CHRNG):c.1250-2A>C	Likely pathogenic

SpliceAI

555 predictions. Top by Δscore:

Variant	Effect	Δscore
2:232544576:GCTAG:G	donor_gain	1.0000
2:232544577:C:G	donor_gain	1.0000
2:232544903:G:GG	donor_gain	1.0000
2:232544580:GG:G	donor_loss	0.9900
2:232544901:AT:A	donor_gain	0.9900
2:232544908:C:G	donor_gain	0.9900
2:232544361:CTCTA:C	acceptor_loss	0.9800
2:232544364:TA:T	acceptor_loss	0.9800
2:232544770:A:AG	acceptor_gain	0.9800
2:232544771:G:GG	acceptor_gain	0.9800
2:232544771:GA:G	acceptor_gain	0.9800
2:232544899:CAAT:C	donor_gain	0.9800
2:232544899:CAATG:C	donor_loss	0.9800
2:232544900:AATG:A	donor_loss	0.9800
2:232544901:ATG:A	donor_loss	0.9800
2:232544902:TGT:T	donor_loss	0.9800
2:232544903:GTAA:G	donor_loss	0.9800
2:232544904:TAAG:T	donor_loss	0.9800
2:232544905:A:AG	donor_loss	0.9800
2:232544366:GGT:G	acceptor_gain	0.9700
2:232544493:G:GT	donor_gain	0.9700
2:232544547:C:T	donor_gain	0.9700
2:232544581:G:GG	donor_gain	0.9700
2:232544768:T:G	acceptor_gain	0.9700
2:232544900:AAT:A	donor_gain	0.9700
2:232544023:G:T	donor_gain	0.9500
2:232544374:TGAGG:T	acceptor_gain	0.9500
2:232544769:CA:C	acceptor_loss	0.9500
2:232544770:AG:A	acceptor_loss	0.9500
2:232544771:G:GA	acceptor_loss	0.9500

AlphaMissense

3918 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:232549331:G:C	F184L	0.949
2:232549331:G:T	F184L	0.949
2:232549333:A:G	F184L	0.949
2:232548338:T:A	R515S	0.948
2:232548338:T:G	R515S	0.948
2:232549306:A:G	W193R	0.935
2:232549306:A:T	W193R	0.935
2:232548749:G:C	F378L	0.934
2:232548749:G:T	F378L	0.934
2:232548751:A:G	F378L	0.934
2:232549301:C:A	K194N	0.925
2:232549301:C:G	K194N	0.925
2:232548355:C:G	D510H	0.921
2:232548379:C:G	A502P	0.920
2:232549480:A:G	W135R	0.917
2:232549480:A:T	W135R	0.917
2:232548353:G:C	D510E	0.916
2:232548353:G:T	D510E	0.916
2:232548761:G:C	F374L	0.915
2:232548761:G:T	F374L	0.915
2:232548763:A:G	F374L	0.915
2:232549743:A:T	V47D	0.914
2:232548366:A:G	F506S	0.912
2:232548736:C:G	A383P	0.908
2:232549544:G:C	F113L	0.904
2:232549544:G:T	F113L	0.904
2:232549546:A:G	F113L	0.904
2:232549302:T:G	K194T	0.902
2:232549496:A:C	F129L	0.901
2:232549496:A:T	F129L	0.901

dbSNP variants (sampled 300 via entrez): RS1000310952 (2:232550728 A>G), RS1000378392 (2:232550562 C>A), RS1000384133 (2:232548659 G>A), RS1000721434 (2:232551660 G>A), RS1001768561 (2:232550995 C>T), RS1001881845 (2:232549038 G>A), RS1002421713 (2:232546745 T>C), RS1003639313 (2:232549991 A>C), RS1003654970 (2:232548247 A>G), RS1003728724 (2:232547948 A>G), RS1003775275 (2:232550252 T>A,C), RS1004515576 (2:232548310 T>C), RS1005114717 (2:232548573 A>G), RS1005469155 (2:232547670 G>A), RS1006021908 (2:232546329 A>C,G,T)

Disease associations

OMIM: gene MIM:612972 | disease phenotypes: MIM:253290, MIM:265000

GenCC curated gene-disease

Mondo (3): lethal multiple pterygium syndrome (MONDO:0009668), CHRNG-associated hypo-akinesia disorder of prenatal onset (MONDO:0100158), autosomal recessive multiple pterygium syndrome (MONDO:0009926)

Orphanet (2): Lethal multiple pterygium syndrome (Orphanet:33108), Autosomal recessive multiple pterygium syndrome (Orphanet:2990)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_411	Refractive error	1.000000e-123

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
rs1656402	EIF4E2, TIGD1		0.00	0

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	8
trichostatin A	affects cotreatment, decreases expression	3
Cyclosporine	decreases expression, increases expression	3
Air Pollutants	affects expression, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
methylmercuric chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects expression	1
Ethyl Methanesulfonate	decreases expression	1
Folic Acid	decreases expression	1
Ozone	affects expression, increases abundance	1
Quercetin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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