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ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B [ Homo sapiens (human) ]

Gene ID: 257629, updated on 23-Nov-2021

Summary

Official Symbol
ANKS4Bprovided by HGNC
Official Full Name
ankyrin repeat and sterile alpha motif domain containing 4Bprovided by HGNC
Primary source
HGNC:HGNC:26795
See related
Ensembl:ENSG00000175311 MIM:609901
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
HARP
Expression
Biased expression in small intestine (RPKM 15.8), duodenum (RPKM 11.5) and 6 other tissues See more
Orthologs
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Genomic context

See ANKS4B in Genome Data Viewer
Location:
16p12.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (21233699..21253850)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21245020..21265171)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 3 Neighboring gene lipid droplet assembly factor 1 Neighboring gene uncharacterized LOC105371123 Neighboring gene zona pellucida glycoprotein 2 Neighboring gene uncharacterized LOC105371125 Neighboring gene crystallin mu Neighboring gene CRYM antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38819, MGC133380, MGC133381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in brush border assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to microvillus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to endoplasmic reticulum stress ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in brush border IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in microvillus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ankyrin repeat and SAM domain-containing protein 4B
Names
harmonin-interacting ankyrin-repeat containing protein

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)

  1. NM_145865.3NP_665872.2  ankyrin repeat and SAM domain-containing protein 4B

    See identical proteins and their annotated locations for NP_665872.2

    Status: VALIDATED

    Source sequence(s)
    AF001550, AK096138, BC112368
    Consensus CDS
    CCDS42130.1
    UniProtKB/Swiss-Prot
    Q8N8V4
    Related
    ENSP00000308772.5, ENST00000311620.7
    Conserved Domains (6) summary
    cd09587
    Location:345410
    SAM_HARP; SAM domain of HARP subfamily
    PLN03192
    Location:38217
    PLN03192; Voltage-dependent potassium channel; Provisional
    sd00045
    Location:329
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:149
    Ank_4; Ankyrin repeats (many copies)
    pfam12796
    Location:38121
    Ank_2; Ankyrin repeats (3 copies)
    cd21802
    Location:255281
    CEN_ANKS4B; central domain found in ankyrin repeat and SAM domain-containing protein 4B

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    21233699..21253850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017852933.1 Reference GRCh38.p13 PATCHES

    Range
    57390..77541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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