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FASTKD2 FAST kinase domains 2 [ Homo sapiens (human) ]

Gene ID: 22868, updated on 3-Jun-2018
Official Symbol
FASTKD2provided by HGNC
Official Full Name
FAST kinase domains 2provided by HGNC
Primary source
HGNC:HGNC:29160
See related
Ensembl:ENSG00000118246 MIM:612322; Vega:OTTHUMG00000132917
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
KIAA0971
Summary
This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in thyroid (RPKM 5.2), heart (RPKM 4.8) and 25 other tissues See more
Orthologs
See FASTKD2 in Genome Data Viewer
Location:
2q33.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (206765388..206796189)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (207630112..207660913)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 237 member A Neighboring gene VPS26 endosomal protein sorting factor C pseudogene Neighboring gene dystrotelin Neighboring gene malate dehydrogenase 1B Neighboring gene microRNA 3130-1 Neighboring gene microRNA 3130-2 Neighboring gene carboxypeptidase O Neighboring gene Kruppel like factor 7 Neighboring gene microRNA 2355 Neighboring gene microRNA 7845

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
NHGRI GWA Catalog
FASTKD2 is associated with memory and hippocampal structure in older adults.
NHGRI GWA Catalog
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
rRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular respiration ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitochondrial large ribosomal subunit assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
intercellular bridge IDA
Inferred from Direct Assay
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
FAST kinase domain-containing protein 2, mitochondrial

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_008984.1 RefSeqGene

    Range
    5001..35802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136193.1NP_001129665.1  FAST kinase domain-containing protein 2, mitochondrial

    See identical proteins and their annotated locations for NP_001129665.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC008269, BC001544, DA021045, DA475994
    Consensus CDS
    CCDS2371.1
    UniProtKB/Swiss-Prot
    Q9NYY8
    UniProtKB/TrEMBL
    A0A024R419
    Related
    ENSP00000385990.3, OTTHUMP00000206508, ENST00000402774.7, OTTHUMT00000336777
    Conserved Domains (3) summary
    smart00952
    Location:636692
    RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
    pfam06743
    Location:457527
    FAST_1; FAST kinase-like protein, subdomain 1
    pfam08368
    Location:572618
    FAST_2; FAST kinase-like protein, subdomain 2
  2. NM_001136194.1NP_001129666.1  FAST kinase domain-containing protein 2, mitochondrial

    See identical proteins and their annotated locations for NP_001129666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AC008269, BC001544, DA475994, DA756417
    Consensus CDS
    CCDS2371.1
    UniProtKB/Swiss-Prot
    Q9NYY8
    UniProtKB/TrEMBL
    A0A024R419
    Related
    ENSP00000384929.3, OTTHUMP00000206509, ENST00000403094.3, OTTHUMT00000336778
    Conserved Domains (3) summary
    smart00952
    Location:636692
    RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
    pfam06743
    Location:457527
    FAST_1; FAST kinase-like protein, subdomain 1
    pfam08368
    Location:572618
    FAST_2; FAST kinase-like protein, subdomain 2
  3. NM_014929.3NP_055744.2  FAST kinase domain-containing protein 2, mitochondrial

    See identical proteins and their annotated locations for NP_055744.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AC008269, BC001544, DA475994
    Consensus CDS
    CCDS2371.1
    UniProtKB/Swiss-Prot
    Q9NYY8
    UniProtKB/TrEMBL
    A0A024R419
    Related
    ENSP00000236980.6, OTTHUMP00000163838, ENST00000236980.10, OTTHUMT00000256428
    Conserved Domains (3) summary
    smart00952
    Location:636692
    RAP; This domain is found in various eukaryotic species, particularly in apicomplexans
    pfam06743
    Location:457527
    FAST_1; FAST kinase-like protein, subdomain 1
    pfam08368
    Location:572618
    FAST_2; FAST kinase-like protein, subdomain 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    206765388..206796189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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