NHLRC2 - NHL repeat containing 2 Gene

Also Known as FINCA

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 374354

About NHLRC2

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:113,854,661-113,917,194 (from NCBI)

This gene has 2 transcripts (splice variants), 199 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 7.9), thyroid (RPKM 6.2) and 25 other tissues.

Summary

Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

NHLRC2 Products (1)

mRNA Protein Name
NM_198514.4 NP_940916.2 NHL repeat-containing protein 2

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytosol IDA
IDA: Inferred from direct assay
30239752 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
Protein Preferred Names Protein Names

NHL repeat-containing protein 2

  • 1200003G01Rik

NHLRC2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
NHLRC2 Q8NBF2 CEP76 Homo sapiens Q8TAP6
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis

  • FINCA

  • Finca Syndrome

  • Fibrosis-Neurodegeneration-Cerebral Angiomatosis Syndrome

  • Interstitial Lung Fibrosis-Neurodegeneration-Cerebral Angiomatosis Syndrome
Hemolytic Anemia

  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect
Respiratory Failure

  • Acute Respiratory Failure

  • Chronic Respiratory Failure

  • Respiratory Insufficiency

  • Acute-On-Chronic Respiratory Failure

  • Respiratory Disease

  • Acute And Chronic Respiratory Failure

  • Respiratory Insufficiency/Failure

  • Chronic Respiratory Disease

  • Pulmonary Valve Insufficiency

  • Chronic Disease Of Respiratory System

  • Respiration Disorders

  • Respiratory Tract Diseases

  • Lung Failure Nos

  • Pulmonary Failure

  • Arf - [Acute Respiratory Failure]

  • Acute Respiratory Insufficiency

  • Acute Pulmonary Insufficiency

  • Acute Respiration Failure

  • Chronic Respiration Failure
Mitochondrial Complex I Deficiency, Nuclear Type 1

  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS09287 NHLRC2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Canis familiaris NHLRC2 VGNC VGNC:43801
Bos taurus NHLRC2 VGNC VGNC:32068
Mus musculus NHLRC2 MGD MGI:1914116
Macaca mulatta NHLRC2 VGNC VGNC:75249
Rattus norvegicus NHLRC2 RGD RGD:1307348
Others NHLRC2 NCBI