BBLN bublin coiled coil protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: BBLNprovided by HGNC
Official Full Name: bublin coiled coil proteinprovided by HGNC
Primary source: HGNC:HGNC:17823
See related: Ensembl:ENSG00000171159 AllianceGenome:HGNC:17823
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Hero9; C9orf16; EST00098
Summary: Enables molecular adaptor activity. Involved in intermediate filament bundle assembly. Located in cell junction; polymeric cytoskeletal fiber; and subapical part of cell. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal (RPKM 41.7), brain (RPKM 23.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128160265..128163924)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140367336..140371004)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130922544..130926203)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C9orf16 represents the aberrant genetic programs and drives the progression of PDAC.
Title: C9orf16 represents the aberrant genetic programs and drives the progression of PDAC.

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18426 (e-PCR)
- UniSTS:34648

D9S1673E (e-PCR)
- UniSTS:147391

RH48361 (e-PCR)
- UniSTS:76530

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in bone resorption	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multinuclear osteoclast differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
colocalizes_with intermediate filament	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with kinetochore microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
located_in subapical part of cell	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: bublin coiled-coil protein

Names: UPF0184 protein C9orf16

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.