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

Gene ID: 84141, updated on 6-Nov-2022

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, Apr 2022]
Expression
Biased expression in liver (RPKM 20.6), lung (RPKM 8.7) and 7 other tissues See more
Orthologs
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Genomic context

See EVA1A in Genome Data Viewer
Location:
2p12
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (75492318..75569719, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (75501601..75579027, complement)
105.20220307 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 EVA1A antisense RNA 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

Homology

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)

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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_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
    Q9H8M9, Q9HC41
    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
    Q9HC41
    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
    Q9HC41
    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
    Q9H8M9, Q9HC41
    Related
    ENSP00000233712.1, ENST00000233712.5
    Conserved Domains (1) summary
    pfam14851
    Location:13152
    FAM176; FAM176 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)