ANKRD36B Gene - Ankyrin Repeat Domain 36B

Comprehensive genomic and functional analysis of ANKRD36B

Gene Information Card

Symbol ANKRD36B
Full Name Ankyrin Repeat Domain 36B
Gene Type Protein coding
Chromosomal Location 2q11.2
NCBI Gene ID 84750 ncbi.nlm.nih.gov/gene/84750
Ensembl ID ENSG00000162961
UniProt ID Q8N6N3
OMIM ID 615933
HGNC ID 26779
Aliases ANKRD36, FLJ14431, MGC16121

Description

ANKRD36B (ankyrin repeat domain 36B) is a protein-coding gene located on chromosome 2q11.2. It encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. The gene is part of a family of ankyrin repeat domain genes, and its specific function remains under investigation, though it may play roles in cellular signaling and structural organization.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No curated disease associations Not established No evidence in ClinVar or OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 2.1 Low
Brain 1.5 Low
Heart 0.8 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 0.5 Low expression
K562 0.3 Low expression
HeLa 0.2 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No curated variants N/A N/A N/A
Mutation functional classification

Loss of Function (LOF)

No data available

Gain of Function (GOF)

No data available

Dominant Negative (DN)

No data available

Protein Summary

The ANKRD36B protein contains ankyrin repeat domains, which are common motifs mediating protein-protein interactions. Its precise biological function is not fully characterized, but it may be involved in cytoskeletal organization or signal transduction.

Related Products

Product name Cat.No. Species Gene ID
ANKRD36B Knockout HEK293 Cell Line EDJ-KQ12367 Human 57730 Details Get a Quote
ANKRD36B Knockout A-549 Cell Line EDJ-KQ41219 Human 57730 Details Get a Quote
ANKRD36B Knockout HCT 116 Cell Line EDJ-KQ41220 Human 57730 Details Get a Quote
ANKRD36B Knockout HeLa Cell Line EDJ-KQ41221 Human 57730 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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