TIGD5

Summary

TIGD5 (tigger transposable element derived 5, HGNC:18336) is a protein-coding gene on chromosome 8q24.3, encoding Tigger transposable element-derived protein 5 (Q53EQ6).

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 84948 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 92 total — 1 pathogenic
• MANE Select transcript: NM_032862

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18336
Approved symbol	TIGD5
Name	tigger transposable element derived 5
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14926
Ensembl gene	ENSG00000179886
Ensembl biotype	protein_coding
Entrez	84948

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000504548

RefSeq mRNA: 1 — MANE Select: NM_032862 NM_032862

CCDS: CCDS6406

Canonical transcript exons

ENST00000321385 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 80.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3569 / max 54.2742, expressed in 1645 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91414	5.3569	1645

Top tissues by expression

132 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	80.46	gold quality
stromal cell of endometrium	CL:0002255	74.90	gold quality
ventricular zone	UBERON:0003053	74.89	gold quality
apex of heart	UBERON:0002098	74.51	gold quality
cortical plate	UBERON:0005343	74.26	gold quality
gastrocnemius	UBERON:0001388	73.82	gold quality
ganglionic eminence	UBERON:0004023	73.69	gold quality
mucosa of transverse colon	UBERON:0004991	73.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	73.11	gold quality
muscle of leg	UBERON:0001383	72.79	gold quality
body of pancreas	UBERON:0001150	71.90	gold quality
granulocyte	CL:0000094	71.73	gold quality
heart left ventricle	UBERON:0002084	70.70	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.43	gold quality
cerebellum	UBERON:0002037	70.32	gold quality
cerebellar cortex	UBERON:0002129	70.23	gold quality
cerebellar hemisphere	UBERON:0002245	70.21	gold quality
right ovary	UBERON:0002118	70.07	gold quality
lower esophagus mucosa	UBERON:0035834	70.05	gold quality
skeletal muscle tissue	UBERON:0001134	69.94	gold quality
right adrenal gland	UBERON:0001233	69.08	gold quality
lower esophagus	UBERON:0013473	69.08	gold quality
lower esophagus muscularis layer	UBERON:0035833	69.07	gold quality
fundus of stomach	UBERON:0001160	69.03	gold quality
left ovary	UBERON:0002119	68.98	gold quality
esophagus mucosa	UBERON:0002469	68.98	gold quality
ovary	UBERON:0000992	68.96	gold quality
right adrenal gland cortex	UBERON:0035827	68.96	gold quality
muscle layer of sigmoid colon	UBERON:0035805	68.83	gold quality
pancreas	UBERON:0001264	68.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2562.1	TIGD5	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605368

miRNA regulators (miRDB)

32 targeting TIGD5, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-4733-3P	98.35	65.20	994
HSA-MIR-6511A-3P	97.60	66.61	713
HSA-MIR-6511B-3P	97.60	66.61	713
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-134-5P	97.11	66.52	976
HSA-MIR-3118	97.11	66.58	984
HSA-MIR-1287-5P	96.80	65.30	743
HSA-MIR-6508-3P	96.73	65.48	576
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969

Literature-anchored findings (GeneRIF, showing 2)

• Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder. (PMID:33393181)
• The TIGD5 gene located in 8q24 and frequently amplified in ovarian cancers is a tumor suppressor. (PMID:36054307)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tigd5	ENSMUSG00000103906
rattus_norvegicus	Tigd5	ENSRNOG00000008686

Paralogs (12): CENPB (ENSG00000125817), TIGD7 (ENSG00000140993), POGK (ENSG00000143157), POGZ (ENSG00000143442), TIGD6 (ENSG00000164296), TIGD4 (ENSG00000169989), TIGD3 (ENSG00000173825), TIGD2 (ENSG00000180346), JRKL (ENSG00000183340), TIGD1 (ENSG00000221944), JRK (ENSG00000234616), (ENSG00000293642)

Protein

Protein identifiers

Tigger transposable element-derived protein 5 — Q53EQ6 (reviewed: Q53EQ6)

All UniProt accessions (1): Q53EQ6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q53EQ6-1	1	yes
Q53EQ6-2	2

RefSeq proteins (1): NP_116251* (*=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
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR050863	CenT-Element_Derived	Family

Pfam: PF03184, PF03221, PF04218

UniProt features (21 total): compositionally biased region 5, domain 4, sequence conflict 4, region of interest 3, DNA-binding region 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53EQ6-F1	69.21	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 63 (showing top): GOBP_SEGMENTATION, GOBP_SEGMENT_SPECIFICATION, ACEVEDO_LIVER_CANCER_UP, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, MARTENS_TRETINOIN_RESPONSE_DN, chr8q24, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ARID5B_TARGET_GENES, ASH1L_TARGET_GENES, GUCY1B1_TARGET_GENES, NCOA2_TARGET_GENES, SETD7_TARGET_GENES, SKIL_TARGET_GENES, SNRNP70_TARGET_GENES, ZMYM2_TARGET_GENES

GO Biological Process (2): segment specification (GO:0007379), central nervous system formation (GO:0021556)

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
pattern specification process	1
segmentation	1
central nervous system morphogenesis	1
anatomical structure formation involved in morphogenesis	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

414 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TIGD5	COMMD5	Q9GZQ3	658
TIGD5	PYCR3	Q53H96	608
TIGD5	POGK	Q9P215	572
TIGD5	NAIF1	Q69YI7	511
TIGD5	PEX39	Q5I0X4	507
TIGD5	TRIM11	Q96F44	486
TIGD5	CCDC24	Q8N4L8	478
TIGD5	TIGD4	Q8IY51	477
TIGD5	CENPBD1P	B2RD01	472
TIGD5	ZNF623	O75123	449
TIGD5	ZHX1-C8orf76	Q96EF9	447
TIGD5	POP1	Q99575	447
TIGD5	ZNF285	Q96NJ3	447
TIGD5	C8orf76	Q96K31	445
TIGD5	SETMAR	Q53H47	444

IntAct

67 interactions, top by confidence:

A	B	Type	Score
NPHP1	NPHP4	psi-mi:“MI:0914”(association)	0.930
P4HA2	P4HB	psi-mi:“MI:0914”(association)	0.740
P4HA3	FAM171A2	psi-mi:“MI:0914”(association)	0.640
MAGEA4	MAGEB16	psi-mi:“MI:0914”(association)	0.530
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
VSIG4	TCAF2	psi-mi:“MI:0914”(association)	0.530
LTBR	ZNF724	psi-mi:“MI:0914”(association)	0.530
EFNB2	FAM171A2	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
DPPA4	ALOX12B	psi-mi:“MI:0914”(association)	0.530
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
TIGD5	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.350
ZNRD2	KRBA1	psi-mi:“MI:0914”(association)	0.350
PRMT2	KRBA1	psi-mi:“MI:0914”(association)	0.350
P3H1	KRBA1	psi-mi:“MI:0914”(association)	0.350
NCAPH2	MYO9A	psi-mi:“MI:0914”(association)	0.350
SKAP1	MYO9A	psi-mi:“MI:0914”(association)	0.350
CDH5	ARVCF	psi-mi:“MI:0914”(association)	0.350
THBS3	APBB1	psi-mi:“MI:0914”(association)	0.350
IKZF5	PEX14	psi-mi:“MI:0914”(association)	0.350

BioGRID (115): TIGD5 (Two-hybrid), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), P4HA2 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), TIGD5 (Affinity Capture-MS), ZMYND19 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

Diamond homologs: B0X560, B1WC39, G3MY25, Q16IB4, Q29CW0, Q29CW2, Q499M4, Q53EQ6, Q9VBW6, Q9VBW9, Q60976, Q9Y4A0, B2RD01, B2RRL2, O75564, Q0VBL1, Q4W5G0, Q6NT04

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	89
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	Pathogenic

SpliceAI

130 predictions. Top by Δscore:

Variant	Effect	Δscore
8:143599489:TTGCG:T	donor_gain	0.9600
8:143599485:G:GT	donor_gain	0.9400
8:143599648:GGACC:G	donor_gain	0.9200
8:143599490:TGCGG:T	donor_gain	0.9100
8:143599541:G:GT	donor_gain	0.9000
8:143599542:G:T	donor_gain	0.9000
8:143599751:GC:G	donor_gain	0.8800
8:143599509:G:GT	donor_gain	0.8300
8:143599545:G:GT	donor_gain	0.7900
8:143599407:G:GT	donor_gain	0.7700
8:143599645:G:GT	donor_gain	0.7400
8:143599828:T:A	donor_gain	0.7100
8:143599519:G:GT	donor_gain	0.6800
8:143599719:G:GT	donor_gain	0.6500
8:143599491:GCGGA:G	donor_gain	0.6400
8:143599524:C:A	donor_gain	0.6200
8:143599269:G:GT	donor_gain	0.5800
8:143599649:GACC:G	donor_gain	0.5700
8:143599726:GAGAG:G	donor_gain	0.5700
8:143599670:G:T	donor_gain	0.5600
8:143599813:GCCCC:G	donor_gain	0.5600
8:143599550:G:GA	donor_gain	0.5400
8:143599551:G:A	donor_gain	0.5200
8:143599728:G:GT	donor_gain	0.5200
8:143599827:G:A	donor_gain	0.5200
8:143599873:G:GT	donor_gain	0.5200
8:143599493:G:GT	donor_gain	0.5000
8:143599746:C:T	donor_gain	0.5000
8:143602878:G:T	acceptor_gain	0.5000
8:143600402:ACTGG:A	donor_gain	0.4900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000551410 (8:143597910 C>A), RS1000848682 (8:143602271 G>T), RS1001156173 (8:143598513 A>C,G), RS1001505088 (8:143595932 C>T), RS1001598335 (8:143596177 T>A), RS1001790227 (8:143598779 G>A), RS1001884430 (8:143602770 C>A,G,T), RS1002290547 (8:143597889 C>A,T), RS1002601339 (8:143597252 C>T), RS1002906562 (8:143600727 A>C), RS1003498766 (8:143601782 G>A), RS1003569404 (8:143602773 C>T), RS1003852521 (8:143601648 C>G), RS1004161478 (8:143603489 G>GTGGC), RS1004517533 (8:143603439 G>A)

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

3 associations (top):

Study	Trait	p-value
GCST006804_50	Red cell distribution width	1.000000e-13
GCST008459_52	Schizophrenia	4.000000e-08
GCST008459_53	Schizophrenia	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width

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
Tobacco Smoke Pollution	decreases expression, increases expression	2
GSK-J4	decreases expression	1
TAK-243	affects sumoylation	1
propylparaben	increases expression	1
lead acetate	increases expression	1
ferrous chloride	decreases expression	1
cupric chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
ICG 001	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Temozolomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1
Cadmium	increases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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