1. Gene
  2. NKX2-8 - NK2 homeobox 8 Gene

NKX2-8 - NK2 homeobox 8 Gene

Homo sapiens

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

Gene ID: 26257 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
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 Reference Source
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

Related Diseases

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

Species Symbol Source 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