NGB

neuroglobin

Basic information

Region (hg38): 14:77265483-77271206

Links

ENSG00000165553 ∙ NCBI:58157 ∙ OMIM:605304 ∙ HGNC:14077 ∙ Uniprot:Q9NPG2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NGB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NGB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in NGB

This is a list of pathogenic ClinVar variants found in the NGB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-77266562-T-C		not specified	Uncertain significance (May 18, 2023)
14-77266574-C-T		not specified	Uncertain significance (Sep 16, 2021)
14-77268467-G-A		not specified	Uncertain significance (Dec 06, 2022)
14-77268506-C-A		not specified	Uncertain significance (Jul 10, 2023)
14-77268543-G-C		not specified	Uncertain significance (Feb 27, 2024)
14-77268546-C-A		not specified	Uncertain significance (Dec 07, 2021)
14-77269253-A-G		not specified	Uncertain significance (Jun 14, 2022)
14-77270859-G-C		not specified	Uncertain significance (May 02, 2024)
14-77270880-G-C		not specified	Uncertain significance (Nov 22, 2022)
14-77270930-C-A		not specified	Uncertain significance (Aug 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NGB	protein_coding	protein_coding	ENST00000298352	4	5830

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00455	0.693	125687	0	2	125689	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.314	76	84.1	0.904	0.00000451	952
Missense in Polyphen		19	24.779	0.76678		308
Synonymous	0.680	31	36.2	0.856	0.00000195	307
Loss of Function	0.676	4	5.75	0.696	2.45e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes. The deoxygenated form exhibits nitrite reductase activity inhibiting cellular respiration via NO-binding to cytochrome c oxidase. Involved in neuroprotection during oxidative stress. May exert its anti-apoptotic activity by acting to reset the trigger level of mitochondrial cytochrome c release necessary to commit the cells to apoptosis. {ECO:0000269|PubMed:11029004, ECO:0000269|PubMed:11473128, ECO:0000269|PubMed:18416560, ECO:0000269|PubMed:21190290, ECO:0000269|PubMed:21296891}.
• Pathway: Transport of small molecules;Intracellular oxygen transport (Consensus)

Recessive Scores

• pRec: 0.384

Intolerance Scores

• loftool: 0.418
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.33

Haploinsufficiency Scores

• pHI: 0.162
• hipred: Y
• hipred_score: 0.618
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.903

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ngb
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: apoptotic process;oxygen transport
• Cellular component: mitochondrion;cytosol;perikaryon
• Molecular function: oxygen carrier activity;protein binding;oxygen binding;heme binding;metal ion binding