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

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

Summary

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

Genomic context

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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

NCBI Reference Sequences (RefSeq)

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_001317993.2NP_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:80247
    DUF719; Protein of unknown function (DUF719)
  2. NM_001317994.2NP_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:80247
    DUF719; Protein of unknown function (DUF719)
  3. NM_001317995.2NP_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:27177
    DUF719; Protein of unknown function (DUF719)
  4. NM_018691.4NP_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:80247
    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_005268361.5XP_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:80247
    DUF719; Protein of unknown function (DUF719)
  2. XM_005268360.5XP_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:80247
    DUF719; Protein of unknown function (DUF719)
  3. XM_024454339.1XP_024310107.1  protein FAM114A2 isoform X1

    Conserved Domains (1) summary
    pfam05334
    Location:80247
    DUF719; Protein of unknown function (DUF719)
  4. XM_017008967.2XP_016864456.1  protein FAM114A2 isoform X1

    UniProtKB/Swiss-Prot
    Q9NRY5
    UniProtKB/TrEMBL
    A0A140VKG4
    Conserved Domains (1) summary
    pfam05334
    Location:80247
    DUF719; Protein of unknown function (DUF719)
  5. XM_011537542.3XP_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:80247
    DUF719; Protein of unknown function (DUF719)
  6. XM_011537540.3XP_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:80247
    DUF719; Protein of unknown function (DUF719)

RNA

  1. XR_001741975.2 RNA Sequence

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