Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: HBZ ENSG00000130656

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Description

hemoglobin subunit zeta [Source:HGNC Symbol;Acc:HGNC:4835]

Gene Synonyms

HBZ-T1, HBZ1

Location

Chromosome 16: 142,728-154,503 forward strand.

GRCh38:CM000678.2

About this gene

This gene has 2 transcripts (splice variants), 141 orthologues and 11 paralogues.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000252951.3	HBZ-201	798	142aa	ENSP00000252951.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10397	P02008	NM_005332.3	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000652335.1	HBZ-202	547	56aa	ENSP00000498371.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A0A494C057	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

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Summary

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