1. Gene
  2. TERF2IP - TERF2 interacting protein Gene

TERF2IP - TERF2 interacting protein Gene

Homo sapiens

Also known as RAP1; DRIP5

Gene ID: 54386 | Gene type: protein coding

About TERF2IP

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,647,773-75,657,432 (from NCBI)

This gene has 5 transcripts (splice variants), 188 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 81.9), adrenal (RPKM 51.2) and 25 other tissues.

Summary

The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]

TERF2IP Products(1)

mRNA Protein Name
NM_018975.4 NP_061848.2 telomeric repeat-binding factor 2-interacting protein 1

TERF2IP Protein Structure

Myb_DNA-bind_2

Myb_DNA-bind_2: Rap1 Myb domain (132 - 196)

Rap1_C

Rap1_C: TRF2-interacting telomeric protein/Rap1 - C terminal domain (319 - 398)

  • 0
  • 100
  • 200
  • 300
  • 399 a.a.
Protein Preferred Names Protein Names

telomeric repeat-binding factor 2-interacting protein 1

TERF2-interacting telomeric protein 1

Related Diseases

Diseases Alias
Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

Dyskeratosis Congenita, Autosomal Recessive 6

DKCB6

Autosomal Recessive Dyskeratosis Congenita 6

Dyskeratosis Congenita, Autosomal Recessive, 6

Dyskeratosis Congenita, Autosomal Recessive, Type 6

Dyskeratosis Congenita, Autosomal Recessive 1

DKCB1

Autosomal Recessive Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Recessive, 1

Dyskeratosis Congenita, Autosomal Recessive, Type 1

Melanoma-Astrocytoma Syndrome

Melanoma And Neural System Tumor Syndrome

Melanoma Astrocytoma Syndrome

MASTS

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris TERF2IP VGNC VGNC:49734
Felis catus TERF2IP VGNC VGNC:66085
Mus musculus TERF2IP MGD MGI:1929871
Macaca mulatta TERF2IP VGNC VGNC:79187
Bos taurus TERF2IP VGNC VGNC:50057