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FAM126A family with sequence similarity 126 member A [ Homo sapiens (human) ]

Gene ID: 84668, updated on 1-Jun-2020

Summary

Official Symbol
FAM126Aprovided by HGNC
Official Full Name
family with sequence similarity 126 member Aprovided by HGNC
Primary source
HGNC:HGNC:24587
See related
Ensembl:ENSG00000122591 MIM:610531
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HCC; HLD5; HYCC1; DRCTNNB1A
Summary
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in lymph node (RPKM 7.3), testis (RPKM 6.5) and 25 other tissues See more
Orthologs

Genomic context

See FAM126A in Genome Data Viewer
Location:
7p15.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (22895848..23014133, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (22980878..23053814, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 93 Neighboring gene small nucleolar RNA host gene 26 Neighboring gene uncharacterized LOC107986776 Neighboring gene ribosomal protein L12 pseudogene 10 Neighboring gene uncharacterized LOC105375185 Neighboring gene uncharacterized LOC105375186

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

Associated conditions

Description Tests
Hypomyelination and Congenital Cataract Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
NHGRI GWA Catalog

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 
Process Evidence Code Pubs
myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hyccin
Names
down regulated by Ctnnb1, a
down-regulated by CTNNB1 protein A

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.

Genomic

  1. NG_008392.1 RefSeqGene

    Range
    5001..77893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363466.2NP_001350395.1  hyccin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005682, AC006039
    Consensus CDS
    CCDS87486.1
    Related
    ENSP00000386246.1, ENST00000409923.5
    Conserved Domains (1) summary
    pfam09790
    Location:22330
    Hyccin; Hyccin
  2. NM_001363467.2NP_001350396.1  hyccin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AA811006, AC005682, AL833296, BC018710, CN389323, DA485353
    Conserved Domains (1) summary
    pfam09790
    Location:22330
    Hyccin; Hyccin
  3. NM_032581.4NP_115970.2  hyccin isoform 1

    See identical proteins and their annotated locations for NP_115970.2

    Status: REVIEWED

    Source sequence(s)
    AA811006, AC005682, AL833296, BC018710, DB099987
    Consensus CDS
    CCDS5377.1
    UniProtKB/Swiss-Prot
    Q9BYI3
    Related
    ENSP00000403396.2, ENST00000432176.7
    Conserved Domains (1) summary
    pfam09790
    Location:22330
    Hyccin; Hyccin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    22895848..23014133 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515590.2XP_011513892.1  hyccin isoform X4

    Conserved Domains (1) summary
    pfam09790
    Location:22330
    Hyccin; Hyccin
  2. XM_011515589.2XP_011513891.1  hyccin isoform X1

    See identical proteins and their annotated locations for XP_011513891.1

    UniProtKB/Swiss-Prot
    Q9BYI3
    Conserved Domains (1) summary
    pfam09790
    Location:22330
    Hyccin; Hyccin
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