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FAM114A2 family with sequence similarity 114 member A2 [ Homo sapiens (human) ]

Gene ID: 10827, updated on 18-Aug-2020

Summary

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Official Symbol
FAM114A2provided by HGNC
Official Full Name
family with sequence similarity 114 member A2provided by HGNC
Primary source
HGNC:HGNC:1333
See related
Ensembl:ENSG00000055147
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
133K02; C5orf3
Expression
Ubiquitous expression in testis (RPKM 7.5), thyroid (RPKM 3.3) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See FAM114A2 in Genome Data Viewer
Location:
5q33.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (153990148..154038936, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153369723..153418497, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986464 Neighboring gene uncharacterized LOC107983980 Neighboring gene microfibril associated protein 3 Neighboring gene uncharacterized LOC107986465 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. miR-497 promotes the progression of cutaneous squamous cell carcinoma through FAM114A2. Wei XH, et al. Eur Rev Med Pharmacol Sci, 2018 Nov. PMID 30468480
  2. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. Boultwood J, et al. Genomics, 2000 May 15. PMID 10843801
  3. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. Pech MF, et al. Elife, 2019 Aug 27. PMID 31452512, Free PMC Article
  4. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. Elzi DJ, et al. J Proteome Res, 2014 Aug 1. PMID 24999758, Free PMC Article
  5. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Adhikari H, et al. Nat Commun, 2018 Sep 7. PMID 30194290, Free PMC Article

See all (18) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
purine nucleotide binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
protein FAM114A2
Names
testis tissue sperm-binding protein Li 81P

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_001317993.2 → NP_001304922.1  protein FAM114A2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC010232, AK095446, BC011414, CA441690, DA351656, DB022316
    Consensus CDS
    CCDS4323.1
    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4, B3KTE4
    Related
    ENSP00000430384.1, ENST00000520667.5
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

  2. NM_001317994.2 → NP_001304923.1  protein FAM114A2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC010232, AF159700, AK095446, BC011414, CA441690, DA351656, DB028061, DC346688
    Consensus CDS
    CCDS4323.1
    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4, B3KTE4
    Related
    ENSP00000430489.1, ENST00000522858.5
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

  3. NM_001317995.2 → NP_001304924.1  protein FAM114A2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses two alternate splice sites and lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC010232, AK095446, AK298943, BC011414, CA441690, DA351656
    Consensus CDS
    CCDS83036.1
    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    B3KTE4, B4DQT0, E7ESJ7
    Related
    ENSP00000429088.1, ENST00000520313.5
    Conserved Domains (1) summary
    pfam05334
    Location:27 → 177
    DUF719; Protein of unknown function (DUF719)

  4. NM_018691.4 → NP_061161.2  protein FAM114A2 isoform 1

    See identical proteins and their annotated locations for NP_061161.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC010232, AK024664, BC050701, DA351656
    Consensus CDS
    CCDS4323.1
    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4, I6L9D5
    Related
    ENSP00000341597.4, ENST00000351797.9
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    153990148..154038936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268361.5 → XP_005268418.1  protein FAM114A2 isoform X1

    See identical proteins and their annotated locations for XP_005268418.1

    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

  2. XM_005268360.5 → XP_005268417.1  protein FAM114A2 isoform X1

    See identical proteins and their annotated locations for XP_005268417.1

    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

  3. XM_024454339.1 → XP_024310107.1  protein FAM114A2 isoform X1

    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

  4. XM_017008967.2 → XP_016864456.1  protein FAM114A2 isoform X1

    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

  5. XM_011537542.3 → XP_011535844.1  protein FAM114A2 isoform X1

    See identical proteins and their annotated locations for XP_011535844.1

    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

  6. XM_011537540.3 → XP_011535842.1  protein FAM114A2 isoform X1

    See identical proteins and their annotated locations for XP_011535842.1

    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4
    Conserved Domains (1) summary
    pfam05334
    Location:80 → 247
    DUF719; Protein of unknown function (DUF719)

RNA

  1. XR_001741975.2 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRY5.4 GenPept UniProtKB/Swiss-Prot:Q9NRY5

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