TIGD7

Summary

TIGD7 (tigger transposable element derived 7, HGNC:18331) is a protein-coding gene on chromosome 16p13.3, encoding Tigger transposable element-derived protein 7 (Q6NT04).

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 91151 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_033208

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18331
Approved symbol	TIGD7
Name	tigger transposable element derived 7
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	Sancho
Ensembl gene	ENSG00000140993
Ensembl biotype	protein_coding
OMIM	612969
Entrez	91151

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 9 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000396862, ENST00000570634, ENST00000571748, ENST00000572297, ENST00000573608, ENST00000573695, ENST00000574598, ENST00000576104, ENST00000903484, ENST00000903485, ENST00000903486, ENST00000903487, ENST00000903488, ENST00000963453, ENST00000963454

RefSeq mRNA: 1 — MANE Select: NM_033208 NM_033208

CCDS: CCDS10500

Canonical transcript exons

ENST00000396862 — 2 exons

Exon	Start	End
ENSE00001526524	3298808	3302009
ENSE00002675277	3305212	3305430

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 85.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2358 / max 41.9765, expressed in 1411 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156028	3.2358	1411

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	85.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.25	gold quality
cortical plate	UBERON:0005343	84.16	gold quality
tendon	UBERON:0000043	83.96	gold quality
amniotic fluid	UBERON:0000173	81.70	gold quality
tibialis anterior	UBERON:0001385	81.09	gold quality
calcaneal tendon	UBERON:0003701	80.97	gold quality
left ovary	UBERON:0002119	80.58	gold quality
ventricular zone	UBERON:0003053	80.48	gold quality
ovary	UBERON:0000992	80.28	gold quality
ganglionic eminence	UBERON:0004023	80.15	gold quality
medial globus pallidus	UBERON:0002477	79.74	gold quality
right ovary	UBERON:0002118	79.13	gold quality
adenohypophysis	UBERON:0002196	79.04	gold quality
germinal epithelium of ovary	UBERON:0001304	78.66	gold quality
epithelial cell of pancreas	CL:0000083	78.62	gold quality
pituitary gland	UBERON:0000007	78.52	gold quality
gastrocnemius	UBERON:0001388	78.52	gold quality
right uterine tube	UBERON:0001302	78.42	gold quality
cerebellar hemisphere	UBERON:0002245	78.20	gold quality
cerebellar cortex	UBERON:0002129	78.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.06	gold quality
muscle of leg	UBERON:0001383	78.00	gold quality
thyroid gland	UBERON:0002046	77.68	gold quality
left lobe of thyroid gland	UBERON:0001120	77.56	gold quality
right lobe of thyroid gland	UBERON:0001119	77.40	gold quality
smooth muscle tissue	UBERON:0001135	77.36	gold quality
right coronary artery	UBERON:0001625	77.20	gold quality
right atrium auricular region	UBERON:0006631	77.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.52

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2563.1	TIGD7	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605368

miRNA regulators (miRDB)

14 targeting TIGD7, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-6512-5P	98.76	69.29	1195

Literature-anchored findings (GeneRIF, showing 1)

• TIGD7 is a Jerky and JRK/JH8 like gene (PMID:15487591)

Cross-species orthologs

0 orthologs

Paralogs (12): CENPB (ENSG00000125817), POGK (ENSG00000143157), POGZ (ENSG00000143442), TIGD6 (ENSG00000164296), TIGD4 (ENSG00000169989), TIGD3 (ENSG00000173825), TIGD5 (ENSG00000179886), TIGD2 (ENSG00000180346), JRKL (ENSG00000183340), TIGD1 (ENSG00000221944), JRK (ENSG00000234616), (ENSG00000293642)

Protein

Protein identifiers

Tigger transposable element-derived protein 7 — Q6NT04 (reviewed: Q6NT04)

All UniProt accessions (2): Q6NT04, I3L2A8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Tissue specificity. Expressed in all tissues tested. Higher expression in testis and ovary.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NT04-1	1	yes
Q6NT04-2	2

RefSeq proteins (1): NP_149985* (*=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
IPR050863	CenT-Element_Derived	Family

Pfam: PF03184, PF03221, PF04218

UniProt features (11 total): domain 3, sequence conflict 2, DNA-binding region 2, chain 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NT04-F1	72.70	0.25

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, MAFG_TARGET_GENES, ZNF560_TARGET_GENES, ZNF610_TARGET_GENES, LET_7A_3P, MIR98_3P, LET_7F_1_3P, LET_7B_3P, GSE13738_RESTING_VS_TCR_ACTIVATED_CD4_TCELL_UP, GSE13738_RESTING_VS_BYSTANDER_ACTIVATED_CD4_TCELL_UP, DESCARTES_MAIN_FETAL_PDE1C_ACSM3_POSITIVE_CELLS, HARALAMBIEVA_PBMC_FLUARIX_AGE_50_74YO_CORR_WITH_28D_MEM_B_CELL_RESPONSE_AT_3DY_NEGATIVE, GSE21927_SPLEEN_VS_BONE_MARROW_MONOCYTE_BALBC_UP, GSE26488_HDAC7_KO_VS_VP16_TRANSGENIC_HDAC7_KO_DOUBLE_POSITIVE_THYMOCYTE_UP

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

336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TIGD7	ZNF75A	Q96N20	606
TIGD7	POGK	Q9P215	570
TIGD7	ZNF200	P98182	507
TIGD7	CENPBD1P	B2RD01	482
TIGD7	OR52N4	Q8NGI2	480
TIGD7	ZNF681	Q96N22	471
TIGD7	NAIF1	Q69YI7	469
TIGD7	OR1F1	O43749	447
TIGD7	ZNF648	Q5T619	447
TIGD7	ZNF263	O14978	431
TIGD7	ZNF213	O14771	419
TIGD7	SETMAR	Q53H47	411
TIGD7	STARD7	Q9NQZ5	403
TIGD7	HARBI1	Q96MB7	394
TIGD7	CENPB	P07199	390

IntAct

8 interactions, top by confidence:

A	B	Type	Score
RAB3IL1	TIGD7	psi-mi:“MI:0915”(physical association)	0.560
TIGD7	RAB3IL1	psi-mi:“MI:0915”(physical association)	0.560
TIGD7	HSPA8	psi-mi:“MI:0915”(physical association)	0.400
TIGD7	CYP17A1	psi-mi:“MI:0915”(physical association)	0.370
TIGD7	FBP1	psi-mi:“MI:0914”(association)	0.350
TIGD7	MMP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): TIGD7 (Two-hybrid), UACA (Affinity Capture-MS), UACA (Affinity Capture-MS), FBP1 (Affinity Capture-MS), PRMT8 (Affinity Capture-MS), TIGD7 (Proximity Label-MS), UACA (Affinity Capture-MS), PRMT8 (Affinity Capture-MS), MMP3 (Affinity Capture-MS), GAPDH (Cross-Linking-MS (XL-MS)), EIF4E (Cross-Linking-MS (XL-MS)), TIGD7 (Cross-Linking-MS (XL-MS)), TIGD7 (Cross-Linking-MS (XL-MS)), TIGD7 (Cross-Linking-MS (XL-MS)), TIGD7 (Affinity Capture-MS)

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, O75564, Q0VBL1, Q4W5G0, Q60976, Q6NT04, Q9Y4A0, P07199, P27790, P48988, Q17RP2, Q8BUZ3, Q8IY51, Q96MW7, B1WC39, Q499M4, Q6B0B8, Q7TM95, G3MY25, Q53EQ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

469 predictions. Top by Δscore:

Variant	Effect	Δscore
16:3300638:A:T	acceptor_gain	1.0000
16:3305481:T:TA	donor_gain	0.9900
16:3305626:G:GT	donor_gain	0.9900
16:3305709:G:GT	donor_gain	0.9900
16:3305710:G:T	donor_gain	0.9900
16:3300637:C:CT	acceptor_gain	0.9800
16:3305431:AGGCG:A	donor_gain	0.9800
16:3305487:T:TA	donor_gain	0.9800
16:3305109:T:TA	donor_gain	0.9700
16:3305639:CCGAG:C	donor_loss	0.9600
16:3305640:CGAGG:C	donor_loss	0.9600
16:3305642:AGG:A	donor_loss	0.9600
16:3305643:GG:G	donor_loss	0.9600
16:3305644:GT:G	donor_loss	0.9600
16:3305645:T:G	donor_loss	0.9600
16:3304858:C:CT	donor_gain	0.9500
16:3305440:AG:A	donor_gain	0.9500
16:3305482:C:A	donor_gain	0.9500
16:3305710:G:GT	donor_gain	0.9500
16:3300626:CT:C	acceptor_gain	0.9400
16:3305481:TCC:T	donor_gain	0.9400
16:3300623:TAACT:T	acceptor_gain	0.9300
16:3305441:G:C	donor_gain	0.9300
16:3300628:C:CC	acceptor_gain	0.9100
16:3305506:CTGTA:C	donor_loss	0.9100
16:3305507:TGTA:T	donor_loss	0.9100
16:3305508:GTA:G	donor_loss	0.9100
16:3305509:TA:T	donor_loss	0.9100
16:3305510:AC:A	donor_loss	0.9100
16:3305511:CCTGG:C	donor_loss	0.9100

AlphaMissense

3655 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:3300258:G:C	F119L	0.994
16:3300258:G:T	F119L	0.994
16:3300260:A:G	F119L	0.994
16:3300228:A:C	F129L	0.993
16:3300228:A:T	F129L	0.993
16:3300230:A:G	F129L	0.993
16:3300242:A:G	W125R	0.992
16:3300242:A:T	W125R	0.992
16:3300510:A:C	F35L	0.989
16:3300510:A:T	F35L	0.989
16:3300512:A:G	F35L	0.989
16:3299805:A:C	F270L	0.987
16:3299805:A:T	F270L	0.987
16:3299807:A:G	F270L	0.987
16:3299822:A:G	W265R	0.987
16:3299822:A:T	W265R	0.987
16:3300259:A:G	F119S	0.987
16:3300356:A:G	W87R	0.987
16:3300356:A:T	W87R	0.987
16:3300450:A:C	F55L	0.987
16:3300450:A:T	F55L	0.987
16:3300452:A:G	F55L	0.987
16:3300240:C:A	W125C	0.985
16:3300240:C:G	W125C	0.985
16:3299468:A:G	W383R	0.984
16:3299468:A:T	W383R	0.984
16:3299737:A:G	L293S	0.984
16:3299784:A:C	F277L	0.984
16:3299784:A:T	F277L	0.984
16:3299786:A:G	F277L	0.984

dbSNP variants (sampled 300 via entrez): RS1000154979 (16:3302955 A>G), RS1000289238 (16:3303924 C>G), RS1001048991 (16:3305394 G>A,T), RS1001143115 (16:3305180 C>T), RS1001281880 (16:3304413 C>G), RS1001713284 (16:3304676 C>A,G), RS1001874858 (16:3304521 T>C), RS1001947178 (16:3304809 G>C), RS1002658128 (16:3302408 G>A), RS1002887317 (16:3300248 T>A,C), RS1002995014 (16:3302184 A>G), RS1003054166 (16:3307117 A>G), RS1003086743 (16:3300447 T>A), RS1003229233 (16:3301499 T>C), RS1003291032 (16:3306160 G>A)

Disease associations

OMIM: gene MIM:612969 | 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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	4
mercuric bromide	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
urushiol	increases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Coal	decreases expression, increases abundance	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	increases expression	1
Sodium Selenite	decreases expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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