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F8A2 coagulation factor VIII associated 2 [ Homo sapiens (human) ]

Gene ID: 474383, updated on 13-May-2022

Summary

Official Symbol
F8A2provided by HGNC
Official Full Name
coagulation factor VIII associated 2provided by HGNC
Primary source
HGNC:HGNC:31849
See related
Ensembl:ENSG00000288709 AllianceGenome:HGNC:31849
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
HAP40
Summary
This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

See F8A2 in Genome Data Viewer
Location:
Xq28
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155382095..155383801)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153620102..153621808)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154611744..154613450)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927830 Neighboring gene TMLHE pseudogene 1 Neighboring gene int22h-2 recombination region Neighboring gene microRNA 1184-2 Neighboring gene H2A.B variant histone 2 Neighboring gene int22h-3 recombination region Neighboring gene microRNA 1184-3 Neighboring gene coagulation factor VIII associated 3 Neighboring gene H2A.B variant histone 3

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of proteasomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle cytoskeletal trafficking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle cytoskeletal trafficking ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
40-kDa huntingtin-associated protein
Names
coagulation factor VIII-associated (intronic transcript) 2
cpG island protein
factor VIII intron 22 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_001007523.2NP_001007524.1  40-kDa huntingtin-associated protein

    See identical proteins and their annotated locations for NP_001007524.1

    Status: REVIEWED

    Source sequence(s)
    AC234781
    Consensus CDS
    CCDS35462.1
    UniProtKB/Swiss-Prot
    P23610
    Related
    ENSP00000358518.3, ENST00000369505.5

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    155382095..155383801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153620102..153621808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)