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TINF2

TINF2

Protein-coding gene in the species Homo sapiens

humans is encoded by the TINF2 gene. TINF2 is a component of the shelterin protein complex found at the end of telomeres. TINF2 has been shown to interact

TINF2

Clitoridectomy

Surgical removal of the clitoris

Paleopolyploidy Polyploidization Structures Telomere: Telomere-binding protein (TINF2) Protamine Histone H1 H2A H2B H3 H4 Centromere A B C1 C2 E F H I J K M N

Clitoridectomy

Genitoplasty

Plastic surgery performed on the genitals

Paleopolyploidy Polyploidization Structures Telomere: Telomere-binding protein (TINF2) Protamine Histone H1 H2A H2B H3 H4 Centromere A B C1 C2 E F H I J K M N

Genitoplasty

Hoyeraal–Hreidarsson syndrome

Medical condition

shortening. It has been associated with mutations in DKC1, TERT, RTEL1, TINF2, ACD, and PARN. Neuroimaging – cerebellar hypoplasia/atrophy, small brainstem

Hoyeraal–Hreidarsson syndrome

Hoyeraal–Hreidarsson_syndrome

Cerebroretinal microangiopathy with calcifications and cysts

Medical condition

was later shown to result from heterozygous dominant mutations in the TINF2 gene, which encodes TRF1-interacting nuclear factor 2, a major component

Cerebroretinal microangiopathy with calcifications and cysts

Cerebroretinal_microangiopathy_with_calcifications_and_cysts

Dyskeratosis congenita

Medical condition

telomeres as a result of lower TERC concentrations. 3 genes: TERC, TERT, TINF2 The evidence supporting the importance of the H/ACA domain in human telomerase

Dyskeratosis congenita

Dyskeratosis_congenita

Revesz syndrome

Medical condition

Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12. There is no treatment for this

Revesz syndrome

Revesz_syndrome

List of human protein-coding genes 8

16730 TINAGL1 HGNC:19168; Q9GZM7 16731 TINCR HGNC:14607; A0A2R8Y7D0 16732 TINF2 HGNC:11824; Q9BSI4 16733 TIPARP HGNC:23696; Q7Z3E1 16734 TIPIN HGNC:30750;

List of human protein-coding genes 8

List_of_human_protein-coding_genes_8

Adrenocortical dysplasia protein homolog

Protein found in humans

homeostasis in hESCs. ACD (gene) has been shown to interact with POT1 and TINF2. POT1 hTERT TIN2 TRF1 TRF2 Telomerase GRCh38: Ensembl release 89: ENSG00000102977

Adrenocortical dysplasia protein homolog

Adrenocortical_dysplasia_protein_homolog

Telomeric repeat-binding factor 1

Protein-coding gene in humans

mutated, a protein kinase), PINX1 (TERF1-interacting telomerase inhibitor 1), TINF2 (TERF1-interacting telomerase nuclear factor), TNKS2 (Tankyrase, an enzyme)

Telomeric repeat-binding factor 1

Telomeric_repeat-binding_factor_1

POT1

Protein-coding gene in the species Homo sapiens

the elongation of telomeres. POT1 has been shown to interact with ACD and TINF2. Increased transcriptional expression of this gene is associated with stomach

POT1

List of OMIM disorder codes

dominant; 127550; TERC Dyskeratosis congenita, autosomal dominant; 127550; TINF2 Dyskeratosis congenita, autosomal recessive; 224230; NOLA3 Dyskeratosis

List of OMIM disorder codes

List_of_OMIM_disorder_codes