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NKAIN2 sodium/potassium transporting ATPase interacting 2 [ Homo sapiens (human) ]

Gene ID: 154215, updated on 25-Jan-2022

Summary

Official Symbol
NKAIN2provided by HGNC
Official Full Name
sodium/potassium transporting ATPase interacting 2provided by HGNC
Primary source
HGNC:HGNC:16443
See related
Ensembl:ENSG00000188580 MIM:609758; AllianceGenome:HGNC:16443
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TCBA; TCBA1; FAM77B; NKAIP2
Summary
This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Expression
Biased expression in brain (RPKM 16.9) and heart (RPKM 0.4) See more
Orthologs
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Genomic context

See NKAIN2 in Genome Data Viewer
Location:
6q22.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (123803842..124825652)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (124125010..125146786)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene triadin Neighboring gene uncharacterized LOC105377982 Neighboring gene uncharacterized LOC105377981 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene ring finger protein 217 Neighboring gene uncharacterized LOC100126584 Neighboring gene TPD52 like 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?

Phenotypes

EBI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes.
EBI GWAS Catalog
A genome-wide association study of neuroticism in a population-based sample.
EBI GWAS Catalog
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
EBI GWAS Catalog
Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog

General gene information

Markers

Homology

Clone Names

  • MGC41924

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2
Names
Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2
Na+/K+ transporting ATPase interacting 2
T-cell lymphoma breakpoint-associated target protein 1

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.

Genomic

  1. NG_021365.1 RefSeqGene

    Range
    4942..1026718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040214.3NP_001035304.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001035304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK055326, AL354936, BC035062
    Consensus CDS
    CCDS34526.1
    UniProtKB/Swiss-Prot
    Q5VXU1
    UniProtKB/TrEMBL
    B3KNZ0
    Related
    ENSP00000357402.1, ENST00000368417.6
    Conserved Domains (1) summary
    pfam05640
    Location:10207
    NKAIN; Na,K-Atpase Interacting protein
  2. NM_001300737.2NP_001287666.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001287666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate exon in its 5' end compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL354936, BC035062
    UniProtKB/Swiss-Prot
    Q5VXU1
    Related
    ENSP00000437798.2, ENST00000545433.2
    Conserved Domains (1) summary
    pfam05640
    Location:18206
    NKAIN; Na,K-Atpase Interacting protein
  3. NM_001300738.2NP_001287667.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate exon in its 5' end compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (4) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK309802, AL354936, BC035062
    UniProtKB/Swiss-Prot
    Q5VXU1
    Conserved Domains (1) summary
    pfam05640
    Location:2117
    NKAIN; Na,K-Atpase Interacting protein
  4. NM_001300740.1NP_001287669.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 5

    See identical proteins and their annotated locations for NP_001287669.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (5) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK315886, BC035062
    UniProtKB/Swiss-Prot
    Q5VXU1
    UniProtKB/TrEMBL
    B0AZU5
    Conserved Domains (1) summary
    pfam05640
    Location:2105
    NKAIN; Na,K-Atpase Interacting protein
  5. NM_153355.5NP_699186.2  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 2

    See identical proteins and their annotated locations for NP_699186.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK310763, AL354936, BC035062
    UniProtKB/Swiss-Prot
    Q5VXU1
    Conserved Domains (1) summary
    pfam05640
    Location:10140
    NKAIN; Na,K-Atpase Interacting protein

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    123803842..124825652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446340.1XP_024302108.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X2

    Conserved Domains (1) summary
    pfam05640
    Location:18205
    NKAIN; Na,K-Atpase Interacting protein
  2. XM_017010319.2XP_016865808.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X5

  3. XM_011535503.3XP_011533805.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X3

    Conserved Domains (1) summary
    pfam05640
    Location:10179
    NKAIN; Na,K-Atpase Interacting protein
  4. XM_017010318.2XP_016865807.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X4

  5. XM_011535501.3XP_011533803.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011533803.1

    Conserved Domains (1) summary
    pfam05640
    Location:10206
    NKAIN; Na,K-Atpase Interacting protein
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