MGP Database

MGP004841

Record overview

MGPD ID	MGP004841
Gene ID	26277
Species	Homo sapiens (Human)
Gene Name	TERF1 (TRF1)-interacting nuclear factor 2
Gene Symbol	TINF2
Synonyms	TIN2; DKCA3;
Alternate names	TERF1-interacting nuclear factor 2; TRF1-interacting nuclear protein 2;
Chromosome	14
Map 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 interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
Orthologs	View orthologs and multiple alignments for TINF2

Proteins

TERF1-interacting nuclear factor 2 isoform 1

Refseq ID:	NP_001092744
Protein GI:	151101266
UniProt ID:	Q9BSI4
mRNA ID:	NM_001099274
Length:	451
RefSeq Status:

MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKAT
KQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLL
PECSVTDSVNLAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHKERPTVMLFPFRNLGSPTQVI
SKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPATEQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEE
NGQGEGKESLENYQKTKFDTLIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL

TERF1-interacting nuclear factor 2 isoform 2

Refseq ID:	NP_036593
Protein GI:	151101235
UniProt ID:	Q9BSI4
mRNA ID:	NM_012461
Length:	354
RefSeq Status:

`MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKAT KQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLL PECSVTDSVNLAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHKERPTVMLFPFRNLGSPTQVI SKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPATEQKE`