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FAM162A family with sequence similarity 162 member A [ Homo sapiens (human) ]

Gene ID: 26355, updated on 7-Jan-2024

Summary

Official Symbol
FAM162Aprovided by HGNC
Official Full Name
family with sequence similarity 162 member Aprovided by HGNC
Primary source
HGNC:HGNC:17865
See related
Ensembl:ENSG00000114023 MIM:608017; AllianceGenome:HGNC:17865
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
E2IG5; HGTD-P; C3orf28
Summary
Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to hypoxia; and positive regulation of release of cytochrome c from mitochondria. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in colon (RPKM 86.7), esophagus (RPKM 60.9) and 25 other tissues See more
Orthologs
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Genomic context

See FAM162A in Genome Data Viewer
Location:
3q21.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122384182..122412334)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (125103734..125131889)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122103029..122131181)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cystatin A Neighboring gene MPRA-validated peak4796 silencer Neighboring gene HNF4 motif-containing MPRA enhancer 1/2 Neighboring gene mitochondrial matrix import factor 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:122102840-122103340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122134889-122135706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122135707-122136522 Neighboring gene WDR5B divergent transcript Neighboring gene WD repeat domain 5B Neighboring gene karyopherin subunit alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20374 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:122215008-122216207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14641 Neighboring gene uncharacterized LOC107984000

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
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
protein FAM162A
Names
E2-induced gene 5 protein
HIF-1 alpha-responsive proapoptotic molecule
growth and transformation-dependent protein

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_014367.4NP_055182.3  protein FAM162A

    See identical proteins and their annotated locations for NP_055182.3

    Status: VALIDATED

    Source sequence(s)
    AC083798, AF201944, AF250321, BI460077
    Consensus CDS
    CCDS43139.1
    UniProtKB/Swiss-Prot
    Q96A26, Q9NRN6, Q9UJX8
    UniProtKB/TrEMBL
    F8W7Q4
    Related
    ENSP00000419088.1, ENST00000477892.5
    Conserved Domains (1) summary
    pfam06388
    Location:33152
    DUF1075; Protein of unknown function (DUF1075)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    122384182..122412334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    125103734..125131889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)