NKX2-8 - NK2 homeobox 8 Gene

Also Known as NKX2H; NKX2.8; Nkx2-9

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 26257

About NKX2-8

Cytogenetic location: 14q13.3 Genomic coordinates (GRCh38): 14:36,580,004-36,582,614 (from NCBI)

This gene has 1 transcript (splice variant), 196 orthologues and 13 paralogues. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic Cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal Cancer. Mutations in this gene may also be a cause of neural tube defects. [provided by RefSeq, Dec 2015]

NKX2-8 Products (1)

mRNA Protein Name
NM_014360.4 NP_055175.2 homeobox protein Nkx-2.8
Molecular Function GO Annotation Evidence 参考文献 由来
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
12167706 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9446603 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12167706 GOA
enables double-stranded DNA binding IDA
IDA: Inferred from direct assay
9446603 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12167706 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in DNA-templated transcription IDA
IDA: Inferred from direct assay
9446603 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12167706 GOA
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9446603 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NKX2-8 Protein Structure

Homeobox

Homeobox: Homeobox domain (85 - 141)

  • 0
  • 100
  • 200
  • 239 a.a.
Protein Preferred Names Protein Names

homeobox protein Nkx-2.8

  • NK-2 homolog 8

関連疾患

Diseases Alias
Bronchus Adenoma
  • Bronchial Adenoma

  • Adenoma Of The Bronchus

Neural Tube Defects
  • Spina Bifida

  • Neural Tube Defect

  • NTD

  • Neural Tube Defects, Susceptibility To

  • Spinal Dysraphism

  • Spina Bifida, Susceptibility To

  • Rachischisis

  • Cleft Spine

  • Open Spine

  • Hydrocele Spinalis

  • Neural Tube Defect Nos

  • Sb - [Spina Bifida]

  • Spinal Hernia Nos

  • Spinal Fissure Nos

Esophageal Cancer
  • Esophageal Carcinoma

  • Carcinoma Of Esophagus

  • Esophageal Squamous Cell Carcinoma, Somatic

  • Esophageal Carcinoma, Somatic

  • Esophagus Cancer

  • Gastric Cardia Adenocarcinoma

  • Esophageal Neoplasms

  • Esophageal Cancer, Somatic

  • Cancer Of Esophagus

  • Cancer Of Oesophagus

  • Carcinoma Of Oesophagus

  • Ca Lower Third Oesophagus

  • Ca Middle Third Oesophagus

  • Malignant Neoplasm Of Distal Third Of Esophagus

  • Malignant Neoplasm Of Lower Third Of Oesophagus

  • Malignant Neoplasm Of Middle Third Of Oesophagus

  • Malignant Neoplasm Of Proximal Third Of Esophagus

  • Malignant Neoplasm Of Upper Third Esophagus

  • Malignant Tumor Of Abdominal Esophagus

  • Malignant Tumor Of Distal Third Of Esophagus

  • Malignant Tumor Of Proximal Third Of Esophagus

  • Malignant Tumor Of The Middle Third Of The Esophagus

  • ESCR

  • Aerodigestive Tract Cancer

  • Escc

  • Esophageal Squamous Cell Carcinoma

  • Cancer, Esophageal

  • Malignant Neoplasm Of Esophagus

  • Squamous Cell Carcinoma Of Esophagus

  • Malignant Neoplasm Of Middle Third Of Esophagus

Oculoauricular Syndrome
  • OCACS

  • Schorderet-Munier-Franceschetti Syndrome

  • Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear

  • Oculoauricular Syndrome, Schorderet Type

  • Oculo-Auricular Syndrome

Tethered Spinal Cord Syndrome
  • Spinal Dysraphism

  • Tethered Cord Syndrome

  • Occult Spinal Dysraphism

  • Occult Spinal Dysraphism Sequence

  • Segmental Vertebral Anomalies

  • Tethered Spinal Cord Disease

  • Tethered Cord

  • Spina Bifida Occulta

  • Cryptomerorachischisis

  • Spina Bifida Occulta With Tethered Spinal Cord

  • Sbo - [Spina Bifida Occulta]

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

生物種 Symbol 由来 ID
Canis familiaris NKX2-8 VGNC VGNC:43835
Mus musculus NKX2-8 MGD MGI:1270158
Bos taurus NKX2-8 VGNC VGNC:32104
Felis catus NKX2-8 VGNC VGNC:63818
Rattus norvegicus NKX2-8 RGD RGD:1310629
Others NKX2-8 NCBI