ANKRD18B ankyrin repeat domain 18B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD18Bprovided by HGNC
Official Full Name: ankyrin repeat domain 18Bprovided by HGNC
Primary source: HGNC:HGNC:23644
See related: Ensembl:ENSG00000230453 MIM:618930; AllianceGenome:HGNC:23644
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: bA255A11.3; bA255A11.5
Expression: Biased expression in testis (RPKM 1.7), skin (RPKM 0.7) and 6 other tissues See more
Orthologs: all
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Genomic context

Location:: 9p13.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (33524251..33575442)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (33542752..33593966)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (33524249..33575440)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

ANKRD18B mRNA expression was significantly decreased or silenced in lung cancer tissues and cell lines associated with hypermethylation of the ANKRD18B region.
Title: Epigenetic regulation of ANKRD18B in lung cancer.

Submit: New GeneRIF Correction

Phenotypes

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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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General protein information

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Preferred Names: ankyrin repeat domain-containing protein 18B

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.

mRNA and Protein(s)

NM_001353432.2 → NP_001340361.1 ankyrin repeat domain-containing protein 18B isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL139008, BC009440, BF103989, DB512460, DW421358, DW441346

UniProtKB/Swiss-Prot

A2A2Z9

Conserved Domains (6) summary

cd00204
Location:62 → 187

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:69 → 98

ANK; ANK repeat [structural motif]

pfam12001
Location:873 → 977

DUF3496; Domain of unknown function (DUF3496)

pfam13637
Location:34 → 88

Ank_4; Ankyrin repeats (many copies)

pfam14915
Location:335 → 625

CCDC144C; CCDC144C protein coiled-coil region

cl25732
Location:468 → 918

SMC_N; RecF/RecN/SMC N terminal domain
NM_001393611.1 → NP_001380540.1 ankyrin repeat domain-containing protein 18B isoform 2

Status: VALIDATED

Source sequence(s)

AL139008

Consensus CDS

CCDS94397.1

UniProtKB/Swiss-Prot

A2A2Z9

UniProtKB/TrEMBL

A0A8I5KZ96

Related

ENSP00000510683.1, ENST00000684830.1

Conserved Domains (4) summary

COG0419
Location:401 → 993

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

COG0666
Location:62 → 225

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

sd00045
Location:69 → 98

ANK; ANK repeat [structural motif]

pfam13637
Location:34 → 88

Ank_4; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

33524251..33575442

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

33542752..33593966

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001013728.1: Suppressed sequence

Description

NM_001013728.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_001244752.1: Suppressed sequence

Description

NM_001244752.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.