DEFB133 defensin beta 133 (pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB133provided by HGNC
Official Full Name: defensin beta 133 (pseudogene)provided by HGNC
Primary source: HGNC:HGNC:31331
See related: Ensembl:ENSG00000214643 AllianceGenome:HGNC:31331
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEFB134
Summary: Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Predicted to be involved in cell chemotaxis and defense response to bacterium. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: 6p12.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (49946101..49949444, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (49788997..49792341, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh38)

General gene information

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Markers

SHGC-154126 (e-PCR)
- UniSTS:184375

RH37397 (e-PCR)
- UniSTS:30667

Other Names

beta-defensin 133
beta-defensin 134
defensin, beta 133

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CCR6 chemokine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables chemoattractant activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive chemotaxis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.