Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26277
Gene name	TERF1 interacting nuclear factor 2
Gene symbol	TINF2
Synonyms (NCBI Gene)	DKCA3DKCA5TIN2
Chromosome	14
Chromosome location	14q12
Summary	This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it int

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918543	T>A,C	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant, missense variant
rs121918544	C>T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs121918545	G>A,T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs142777869	G>T	Benign, pathogenic, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs199422311	G>A,C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422313	G>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422314	T>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422315	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs199422316	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422317	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422318	GG>CT	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422319	T>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422320	G>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs199422321	G>A,T	Benign, pathogenic, likely-benign	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422322	C>T	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, 3 prime UTR variant, missense variant
rs201677741	G>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs387907153	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs387907154	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs756029660	C>-,CC	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs863223324	T>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1060499576	G>T	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1064795632	G>A	Likely-pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant
rs1555304055	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1566366182	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1594551449	T>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant

109

Show/Hide all (109)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030020	hsa-miR-26b-5p	Microarray	19088304
MIRT1425492	hsa-miR-3159	CLIP-seq
MIRT1425493	hsa-miR-4274	CLIP-seq
MIRT1425494	hsa-miR-4280	CLIP-seq
MIRT1425495	hsa-miR-4423-3p	CLIP-seq
MIRT1425496	hsa-miR-4477a	CLIP-seq
MIRT1425497	hsa-miR-4477b	CLIP-seq
MIRT1425498	hsa-miR-4519	CLIP-seq
MIRT1425499	hsa-miR-4524	CLIP-seq
MIRT1425500	hsa-miR-4703-3p	CLIP-seq
MIRT1425501	hsa-miR-520d-5p	CLIP-seq
MIRT1425502	hsa-miR-524-5p	CLIP-seq
MIRT1425503	hsa-miR-561	CLIP-seq
MIRT1425504	hsa-miR-944	CLIP-seq
MIRT1425505	hsa-miR-1185	CLIP-seq
MIRT1425506	hsa-miR-1265	CLIP-seq
MIRT1425507	hsa-miR-186	CLIP-seq
MIRT1425508	hsa-miR-2392	CLIP-seq
MIRT1425509	hsa-miR-3179	CLIP-seq
MIRT1425510	hsa-miR-3679-5p	CLIP-seq
MIRT1425511	hsa-miR-3682-5p	CLIP-seq
MIRT1425512	hsa-miR-3714	CLIP-seq
MIRT1425513	hsa-miR-4268	CLIP-seq
MIRT1425514	hsa-miR-4448	CLIP-seq
MIRT1425515	hsa-miR-4742-5p	CLIP-seq
MIRT1425516	hsa-miR-4747-5p	CLIP-seq
MIRT1425517	hsa-miR-4777-5p	CLIP-seq
MIRT1425518	hsa-miR-518d-5p	CLIP-seq
MIRT1425519	hsa-miR-519b-5p	CLIP-seq
MIRT1425520	hsa-miR-519c-5p	CLIP-seq
MIRT1425521	hsa-miR-520c-5p	CLIP-seq
MIRT1425522	hsa-miR-526a	CLIP-seq
MIRT1425523	hsa-miR-583	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT1425525	hsa-miR-628-3p	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT2127512	hsa-miR-1827	CLIP-seq
MIRT2127513	hsa-miR-2467-3p	CLIP-seq
MIRT2127514	hsa-miR-3150b-3p	CLIP-seq
MIRT2127515	hsa-miR-3160-3p	CLIP-seq
MIRT2127516	hsa-miR-3612	CLIP-seq
MIRT2127517	hsa-miR-3678-3p	CLIP-seq
MIRT2127518	hsa-miR-3685	CLIP-seq
MIRT2127519	hsa-miR-4689	CLIP-seq
MIRT2127520	hsa-miR-4695-5p	CLIP-seq
MIRT2127521	hsa-miR-4722-5p	CLIP-seq
MIRT2127522	hsa-miR-4768-3p	CLIP-seq
MIRT2127523	hsa-miR-4784	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT2127524	hsa-miR-650	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT1425505	hsa-miR-1185	CLIP-seq
MIRT1425506	hsa-miR-1265	CLIP-seq
MIRT2349251	hsa-miR-1290	CLIP-seq
MIRT1425507	hsa-miR-186	CLIP-seq
MIRT1425508	hsa-miR-2392	CLIP-seq
MIRT2349252	hsa-miR-3167	CLIP-seq
MIRT1425509	hsa-miR-3179	CLIP-seq
MIRT1425510	hsa-miR-3679-5p	CLIP-seq
MIRT2349253	hsa-miR-3691-5p	CLIP-seq
MIRT1425512	hsa-miR-3714	CLIP-seq
MIRT2349254	hsa-miR-4264	CLIP-seq
MIRT2349255	hsa-miR-4273	CLIP-seq
MIRT2349256	hsa-miR-4491	CLIP-seq
MIRT2349257	hsa-miR-4657	CLIP-seq
MIRT2349258	hsa-miR-4677-5p	CLIP-seq
MIRT1425515	hsa-miR-4742-5p	CLIP-seq
MIRT1425516	hsa-miR-4747-5p	CLIP-seq
MIRT2349259	hsa-miR-4752	CLIP-seq
MIRT2349260	hsa-miR-4797-3p	CLIP-seq
MIRT1425523	hsa-miR-583	CLIP-seq
MIRT2349261	hsa-miR-622	CLIP-seq
MIRT2349262	hsa-miR-876-5p	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT2642640	hsa-miR-1298	CLIP-seq
MIRT2127512	hsa-miR-1827	CLIP-seq
MIRT2127513	hsa-miR-2467-3p	CLIP-seq
MIRT2127514	hsa-miR-3150b-3p	CLIP-seq
MIRT2127515	hsa-miR-3160-3p	CLIP-seq
MIRT2127516	hsa-miR-3612	CLIP-seq
MIRT2127517	hsa-miR-3678-3p	CLIP-seq
MIRT2127518	hsa-miR-3685	CLIP-seq
MIRT2642641	hsa-miR-4436b-5p	CLIP-seq
MIRT2127519	hsa-miR-4689	CLIP-seq
MIRT2127520	hsa-miR-4695-5p	CLIP-seq
MIRT2127521	hsa-miR-4722-5p	CLIP-seq
MIRT2127522	hsa-miR-4768-3p	CLIP-seq
MIRT2127523	hsa-miR-4784	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT2127524	hsa-miR-650	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT2642640	hsa-miR-1298	CLIP-seq
MIRT2127512	hsa-miR-1827	CLIP-seq
MIRT2127513	hsa-miR-2467-3p	CLIP-seq
MIRT2127514	hsa-miR-3150b-3p	CLIP-seq
MIRT2127515	hsa-miR-3160-3p	CLIP-seq
MIRT2127516	hsa-miR-3612	CLIP-seq
MIRT2127517	hsa-miR-3678-3p	CLIP-seq
MIRT2127518	hsa-miR-3685	CLIP-seq
MIRT2642641	hsa-miR-4436b-5p	CLIP-seq
MIRT2127519	hsa-miR-4689	CLIP-seq
MIRT2127520	hsa-miR-4695-5p	CLIP-seq
MIRT2127521	hsa-miR-4722-5p	CLIP-seq
MIRT2127522	hsa-miR-4768-3p	CLIP-seq
MIRT2127523	hsa-miR-4784	CLIP-seq
MIRT2693204	hsa-miR-4797-5p	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT2127524	hsa-miR-650	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Unknown	9399940

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	10581025, 12768206, 15133513, 15380063, 23685356, 24270157
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000783	Component	Nuclear telomere cap complex	IDA	16880378
GO:0003677	Function	DNA binding	IDA	10581025
GO:0005515	Function	Protein binding	IPI	11701125, 12768206, 15133513, 15181449, 15231715, 15380063, 15383534, 16169070, 16880378, 17589526, 18202258, 19287395, 19487455, 21044950, 25172512, 25416956, 25620558, 25910212, 26496610, 31515488, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0010370	Component	Perinucleolar chromocenter	IDA	15741234
GO:0016233	Process	Telomere capping	IBA
GO:0016233	Process	Telomere capping	IDA	21852327
GO:0016233	Process	Telomere capping	IEA
GO:0016233	Process	Telomere capping	IMP	15133513, 18443218
GO:0016363	Component	Nuclear matrix	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0032202	Process	Telomere assembly	IMP	16880378
GO:0032206	Process	Positive regulation of telomere maintenance	NAS	15383534
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IGI	10581025
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IMP	15133513
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	12768206, 23685356
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	15741234
GO:0070187	Component	Shelterin complex	IBA
GO:0070187	Component	Shelterin complex	IDA	15383534, 23685356
GO:0070187	Component	Shelterin complex	IEA
GO:0070187	Component	Shelterin complex	IMP	21852327
GO:0070187	Component	Shelterin complex	IPI	15383534
GO:0070198	Process	Protein localization to chromosome, telomeric region	IDA	20404094
GO:0070198	Process	Protein localization to chromosome, telomeric region	IMP	15133513, 18443218
GO:1904356	Process	Regulation of telomere maintenance via telomere lengthening	IBA
GO:1904356	Process	Regulation of telomere maintenance via telomere lengthening	IMP	18669893

MIM	HGNC	e!Ensembl
604319	11824	ENSG00000092330

Q9BSI4

Protein name

TERF1-interacting nuclear factor 2 (TRF1-interacting nuclear protein 2)

Protein function

Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its

PDB

3BQO , 3BU8 , 5XYF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14973	TINF2_N	20 → 169	TERF1-interacting nuclear factor 2 N-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Sequence

MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMG
LKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQ
LSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPG
VSITSSLAWRQYGVDMGWLLPECSVTDSVNLAEPMEQNPPQQQRLALHNPLPKAKPGTHL
PQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHKERPTVMLFPFRNLGSPTQVI
SKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPATEQKENCLDCY
MDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDT
LIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL

Sequence length

451

Interactions

View interactions

	Reactome
			Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends Telomere Extension By Telomerase DNA Damage/Telomere Stress Induced Senescence

645

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dyskeratosis congenita	Pathogenic; Likely pathogenic	rs2502456306, rs2502455869, rs121918544, rs121918545, rs2502455630, rs199422315, rs199422314, rs199422316	RCV002421424 RCV002414379 RCV001382425 RCV001382426 RCV001054196 RCV003531078 RCV002514128 RCV002513292 RCV001852639
Dyskeratosis congenita, autosomal dominant 1	Pathogenic; Likely pathogenic	rs121918543, rs121918544, rs121918545, rs199422311, rs199422315, rs199422314, rs199422316	RCV000032165 RCV002490324 RCV000032168 RCV000032169 RCV000032171 RCV000032173 RCV000032174 RCV000032175
Dyskeratosis congenita, autosomal dominant 3	Pathogenic; Likely pathogenic	rs121918543, rs121918544, rs121918545, rs1555304055, rs387907153, rs387907154, rs863223324	RCV000005977 RCV000005978 RCV000005980 RCV000005981 RCV004560351 RCV000024248 RCV000024250 RCV000030737
Long telomere syndrome	Pathogenic	rs2502468974, rs2502459528	RCV004566523 RCV004566524
Revesz syndrome	Pathogenic	rs121918544, rs1594551449	RCV000005979 RCV000024249
TINF2-related disorder	Likely pathogenic; Pathogenic	rs2502455736, rs199422311	RCV003391518 RCV003407386

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aplastic anemia	not provided	rs199422317	RCV000032176
Cervical cancer	Uncertain significance	rs762455414	RCV005912508
Dyskeratosis Congenita, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	rs769170035, rs886050436, rs886050431, rs779837822	RCV000263846 RCV000376451 RCV000265041 RCV000293081
Gastric cancer	Uncertain significance	rs762455414	RCV005912509
Hoyeraal-Hreidarsson syndrome	Conflicting classifications of pathogenicity	rs201677741	RCV001824719
Inherited Immunodeficiency Diseases	Uncertain significance	rs1594550523	RCV001027638
Malignant tumor of breast	Conflicting classifications of pathogenicity	rs142777869	RCV001269497
Malignant tumor of urinary bladder	Uncertain significance	rs765918306	RCV005911046
Pulmonary fibrosis	Uncertain significance	rs121918543	RCV002509813
See cases	Uncertain significance	rs201787600	RCV002252307

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alveolitis Extrinsic Allergic	Associate	31268371
Anemia Aplastic	Associate	18669893, 21931702
Bone Marrow Failure Disorders	Associate	21865325, 21931702, 25067791, 29742735, 35590014
Breast Neoplasms	Associate	23342266, 35590014
Chromosome Aberrations	Associate	28404540
COVID 19	Associate	34826456
Dyskeratosis Congenita	Associate	18252230, 18669893, 19036115, 21199492, 21477109, 21536674, 21865325, 21931702, 22157096, 25067791, 26230315, 26859482, 29055871, 29581185, 29742735 View all (6 more)
Fibrosis	Associate	34826456
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35590014
Hoyeraal Hreidarsson syndrome	Associate	26810774, 33734615
Hypertension Portal	Associate	37184208
Idiopathic Noncirrhotic Portal Hypertension	Associate	24020493
Idiopathic Pulmonary Fibrosis	Associate	25539146
Immunologic Deficiency Syndromes	Associate	26859482
Infertility Male	Associate	25539146
Inflammation	Associate	23342266
Leukemia Lymphocytic Chronic B Cell	Associate	18077792, 21355086
Liver Diseases	Associate	37184208
Liver Diseases Alcoholic	Associate	24020493
Melanoma	Associate	31928178, 37646013
Myelodysplastic Syndromes	Associate	27418648, 28404540
Neoplasms	Associate	33258446, 35590014, 37646013
Neurocognitive Disorders	Associate	25067791
Neutropenia	Associate	36498862
Post Acute COVID 19 Syndrome	Associate	37646013
Prostatic Neoplasms	Associate	20110352
Pulmonary Fibrosis	Associate	25539146, 29742735
Respiratory Insufficiency	Associate	29742735
Revesz Debuse syndrome	Associate	18252230, 22387016, 25067791
Sarcoma	Associate	37646013
Telomeric 22q13 Monosomy Syndrome	Associate	25539146, 34826456
Thyroid Cancer Papillary	Associate	31928178
Thyroid Neoplasms	Associate	31928178, 37646013
Thyroid Nodule	Associate	15632001

TINF2 (TERF1 interacting nuclear factor 2)