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    EVA1A eva-1 homolog A, regulator of programmed cell death [ Homo sapiens (human) ]

    Gene ID: 84141, updated on 27-Nov-2024

    Summary

    Official Symbol
    EVA1Aprovided by HGNC
    Official Full Name
    eva-1 homolog A, regulator of programmed cell deathprovided by HGNC
    Primary source
    HGNC:HGNC:25816
    See related
    Ensembl:ENSG00000115363 MIM:618990; AllianceGenome:HGNC:25816
    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
    FAM176A; TMEM166
    Summary
    Predicted to be involved in apoptotic process and autophagy. Located in intracellular membrane-bounded organelle and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver (RPKM 20.6), lung (RPKM 8.7) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EVA1A in Genome Data Viewer
    Location:
    2p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (75492318..75569719, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (75501601..75579027, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (75719444..75796845, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 57 Neighboring gene small nucleolar RNA U109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11681 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:75750198-75751397 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:75755615-75756140 Neighboring gene EVA1A antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11682 Neighboring gene uncharacterized LOC124906026 Neighboring gene small nucleolar RNA U3

    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
    Genome-wide association study of antiphospholipid antibodies.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13391

    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein eva-1 homolog A
    Names
    family with sequence similarity 176, member A
    protein FAM176A
    transmembrane protein 166

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001135032.2NP_001128504.1  protein eva-1 homolog A

      See identical proteins and their annotated locations for NP_001128504.1

      Status: VALIDATED

      Source sequence(s)
      AW016395, BC016157, BE892427, BP276065
      Consensus CDS
      CCDS1959.1
      UniProtKB/Swiss-Prot
      D6W5J3, Q9H8M9, Q9HC41
      UniProtKB/TrEMBL
      C9J5M4
      Related
      ENSP00000377490.3, ENST00000393913.8
      Conserved Domains (1) summary
      pfam14851
      Location:13152
      FAM176; FAM176 family
    2. NM_001369524.1NP_001356453.1  protein eva-1 homolog A

      Status: VALIDATED

      Source sequence(s)
      AK023453, BC063016, BE892427, BF247750
      Consensus CDS
      CCDS1959.1
      UniProtKB/Swiss-Prot
      D6W5J3, Q9H8M9, Q9HC41
      UniProtKB/TrEMBL
      C9J5M4
      Related
      ENSP00000398249.1, ENST00000432649.5
      Conserved Domains (1) summary
      pfam14851
      Location:13152
      FAM176; FAM176 family
    3. NM_001369525.1NP_001356454.1  protein eva-1 homolog A

      Status: VALIDATED

      Source sequence(s)
      AK023453, BC063016, BE892427, BP276065
      Consensus CDS
      CCDS1959.1
      UniProtKB/Swiss-Prot
      D6W5J3, Q9H8M9, Q9HC41
      UniProtKB/TrEMBL
      C9J5M4
      Related
      ENSP00000386435.1, ENST00000410113.5
      Conserved Domains (1) summary
      pfam14851
      Location:13152
      FAM176; FAM176 family
    4. NM_032181.3NP_115557.1  protein eva-1 homolog A

      See identical proteins and their annotated locations for NP_115557.1

      Status: VALIDATED

      Source sequence(s)
      AK023453
      Consensus CDS
      CCDS1959.1
      UniProtKB/Swiss-Prot
      D6W5J3, Q9H8M9, Q9HC41
      UniProtKB/TrEMBL
      C9J5M4
      Related
      ENSP00000233712.1, ENST00000233712.5
      Conserved Domains (1) summary
      pfam14851
      Location:13152
      FAM176; FAM176 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      75492318..75569719 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      75501601..75579027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)