TIGD6

Summary

TIGD6 (tigger transposable element derived 6, HGNC:18332) is a protein-coding gene on chromosome 5q32, encoding Tigger transposable element-derived protein 6 (Q17RP2).

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.

Source: NCBI Gene 81789 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 96 total
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_030953

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18332
Approved symbol	TIGD6
Name	tigger transposable element derived 6
Location	5q32
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp761E2110
Ensembl gene	ENSG00000164296
Ensembl biotype	protein_coding
Entrez	81789

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000296736, ENST00000515406, ENST00000532987, ENST00000893998, ENST00000915769

RefSeq mRNA: 4 — MANE Select: NM_030953 NM_001243253, NM_001412170, NM_001412172, NM_030953

CCDS: CCDS4301

Canonical transcript exons

ENST00000296736 — 2 exons

Exon	Start	End
ENSE00001083170	149993118	149996429
ENSE00001211682	150000474	150000654

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 79.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.3731 / max 108.5483, expressed in 1727 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64146	1.8454	1218
64147	1.6736	1140
64148	0.8541	590

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.13	gold quality
islet of Langerhans	UBERON:0000006	78.09	gold quality
stromal cell of endometrium	CL:0002255	77.88	gold quality
buccal mucosa cell	CL:0002336	77.64	silver quality
right adrenal gland cortex	UBERON:0035827	75.94	gold quality
mucosa of transverse colon	UBERON:0004991	75.92	gold quality
left adrenal gland	UBERON:0001234	75.91	gold quality
right adrenal gland	UBERON:0001233	75.89	gold quality
left adrenal gland cortex	UBERON:0035825	75.70	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	75.63	gold quality
rectum	UBERON:0001052	74.91	gold quality
adenohypophysis	UBERON:0002196	74.55	gold quality
calcaneal tendon	UBERON:0003701	74.30	gold quality
tibial nerve	UBERON:0001323	74.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	73.74	gold quality
adrenal gland	UBERON:0002369	73.39	gold quality
adrenal cortex	UBERON:0001235	73.29	gold quality
transverse colon	UBERON:0001157	73.09	gold quality
ventricular zone	UBERON:0003053	72.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.54	gold quality
spinal cord	UBERON:0002240	72.05	gold quality
popliteal artery	UBERON:0002250	72.04	gold quality
tibial artery	UBERON:0007610	72.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	72.02	gold quality
lower esophagus	UBERON:0013473	72.01	gold quality
left coronary artery	UBERON:0001626	71.88	gold quality
pancreas	UBERON:0001264	71.80	gold quality
left ovary	UBERON:0002119	71.79	gold quality
aorta	UBERON:0000947	71.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting TIGD6, 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-6798-5P	100.00	65.77	699
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-1283	99.69	72.42	3009

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000099590
danio_rerio		ENSDARG00000101994
danio_rerio		ENSDARG00000103972

Paralogs (12): CENPB (ENSG00000125817), TIGD7 (ENSG00000140993), POGK (ENSG00000143157), POGZ (ENSG00000143442), TIGD4 (ENSG00000169989), TIGD3 (ENSG00000173825), TIGD5 (ENSG00000179886), TIGD2 (ENSG00000180346), JRKL (ENSG00000183340), TIGD1 (ENSG00000221944), JRK (ENSG00000234616), (ENSG00000293642)

Protein

Protein identifiers

Tigger transposable element-derived protein 6 — Q17RP2 (reviewed: Q17RP2)

All UniProt accessions (1): Q17RP2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

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

RefSeq proteins (4): NP_001230182, NP_001399099, NP_001399101, NP_112215* (*=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 (9 total): domain 3, DNA-binding region 2, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17RP2-F1	77.19	0.29

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 58 (showing top): PAX4_01, GOZGIT_ESR1_TARGETS_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, NRF2_01, CETS1P54_01, AP2GAMMA_01, chr5q32, YGCGYRCGC_UNKNOWN, SCGGAAGY_ELK1_02, AP2ALPHA_01, ELK1_02, ZWANG_DOWN_BY_2ND_EGF_PULSE, KRAS.600.LUNG.BREAST_UP.V1_UP, CHAF1B_TARGET_GENES, CREB3L4_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): DNA binding (GO:0003677), nucleic acid binding (GO:0003676)

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

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

472 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TIGD6	OR52N4	Q8NGI2	474
TIGD6	ALG1L2	C9J202	470
TIGD6	ZNF681	Q96N22	446
TIGD6	CENPBD1P	B2RD01	439
TIGD6	NAIF1	Q69YI7	439
TIGD6	ZNF648	Q5T619	432
TIGD6	HMGXB3	Q12766	413
TIGD6	FOXD4	Q12950	395
TIGD6	ZNF596	Q8TC21	370
TIGD6	HARBI1	Q96MB7	370
TIGD6	TMEM169	Q96HH4	369
TIGD6	TIGD5	Q53EQ6	365
TIGD6	SLC35D4	Q24JQ0	359
TIGD6	A0A087WTP8	A0A087WTP8	358
TIGD6	GDPD4	Q6W3E5	348
TIGD6	B3GNT4	Q9C0J1	348

IntAct

4 interactions, top by confidence:

A	B	Type	Score
TIGD6	MTHFR	psi-mi:“MI:0914”(association)	0.530
TIGD6	ZRANB2	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): ABCF1 (Affinity Capture-MS), ACSL3 (Affinity Capture-MS), MAPT (Affinity Capture-MS), UBE2V2 (Affinity Capture-MS), TAGLN2 (Affinity Capture-MS), MTA1 (Affinity Capture-MS), ZRANB2 (Affinity Capture-MS), SRA1 (Affinity Capture-MS), CHAF1A (Affinity Capture-MS), MAGED2 (Affinity Capture-MS), MRPL13 (Affinity Capture-MS), SS18L2 (Affinity Capture-MS), NUP54 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), SNX27 (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: P07199, P27790, P48988, P49451, Q17RP2, Q4W5G0, Q6B0B8, Q8IY51, Q8BUZ3, Q6NT04, B2RRL2, O75564, Q0VBL1, Q60976, Q96MW7, Q9Y4A0, Q7TM95

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	88
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

281 predictions. Top by Δscore:

Variant	Effect	Δscore
5:149996428:AG:A	acceptor_gain	0.9900
5:149996430:C:CC	acceptor_gain	0.9900
5:149996427:AAG:A	acceptor_gain	0.9800
5:149996428:AGCTG:A	acceptor_loss	0.9800
5:149996430:CT:C	acceptor_loss	0.9800
5:149996431:T:G	acceptor_loss	0.9800
5:149999927:CAGTG:C	donor_gain	0.9700
5:150000587:A:AC	donor_gain	0.9700
5:150000588:C:CC	donor_gain	0.9700
5:149996425:GAAAG:G	acceptor_gain	0.9600
5:149996426:AAAG:A	acceptor_gain	0.9600
5:150000541:T:TA	donor_gain	0.9600
5:149999926:A:AC	donor_gain	0.9500
5:149999927:C:CC	donor_gain	0.9500
5:149996440:A:T	acceptor_loss	0.9300
5:150000216:C:CT	donor_gain	0.9300
5:150000217:T:TT	donor_gain	0.9300
5:149999927:CA:C	donor_gain	0.9100
5:149999991:C:CT	donor_gain	0.9100
5:149999992:T:TT	donor_gain	0.9100
5:150000213:TCAC:T	donor_gain	0.9100
5:150000468:TGTTA:T	donor_loss	0.9100
5:150000469:GTTAC:G	donor_loss	0.9100
5:150000470:TTACC:T	donor_loss	0.9100
5:150000471:TAC:T	donor_loss	0.9100
5:150000473:CCTGA:C	donor_loss	0.9100
5:150000474:C:A	donor_loss	0.9000
5:150000631:C:CA	donor_gain	0.8900
5:149999927:CAGT:C	donor_gain	0.8800
5:150000588:CTAGA:C	donor_gain	0.8800

AlphaMissense

3490 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:149996238:A:C	F37L	0.966
5:149996238:A:T	F37L	0.966
5:149996240:A:G	F37L	0.966
5:149995968:A:C	F127L	0.962
5:149995968:A:T	F127L	0.962
5:149995970:A:G	F127L	0.962
5:149995998:A:C	F117L	0.962
5:149995998:A:T	F117L	0.962
5:149996000:A:G	F117L	0.962
5:149995982:A:G	W123R	0.959
5:149995982:A:T	W123R	0.959
5:149995821:A:C	F176L	0.946
5:149995821:A:T	F176L	0.946
5:149995823:A:G	F176L	0.946
5:149996313:G:C	F12L	0.931
5:149996313:G:T	F12L	0.931
5:149996315:A:G	F12L	0.931
5:149996218:A:G	L44S	0.918
5:149996233:A:G	I39T	0.916
5:149996282:C:G	A23P	0.912
5:149995960:C:G	R130P	0.911
5:149995969:A:G	F127S	0.910
5:149995794:G:C	F185L	0.907
5:149995794:G:T	F185L	0.907
5:149995796:A:G	F185L	0.907
5:149996091:A:C	F86L	0.907
5:149996091:A:T	F86L	0.907
5:149996093:A:G	F86L	0.907
5:149996233:A:C	I39S	0.906
5:149995089:A:C	F420L	0.904

dbSNP variants (sampled 300 via entrez): RS1000118570 (5:149999404 T>C), RS1000188063 (5:150000665 G>A), RS1000679417 (5:150000241 G>A), RS1000980030 (5:150000466 C>T), RS1001527020 (5:149995415 G>A), RS1001790575 (5:149997946 G>A), RS1002016821 (5:149995497 G>A), RS1002103904 (5:150000673 A>C,G), RS1002127915 (5:149996614 GATCTT>G), RS1002677824 (5:150000725 C>T), RS1002704710 (5:149995722 C>A,T), RS10036377 (5:149994453 A>G), RS1003745606 (5:150002195 T>C), RS1003812758 (5:150001020 C>G,T), RS1003907917 (5:150000717 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002396_313	Mean reticulocyte volume	2.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
pentanal	decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Amiodarone	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Potassium Chloride	decreases response to substance, decreases expression	1
Smoke	decreases expression	1
Dronabinol	decreases response to substance, decreases expression	1
Triiodothyronine	increases expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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