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FAM234A family with sequence similarity 234 member A [ Homo sapiens (human) ]

Gene ID: 83986, updated on 23-Nov-2021

Summary

Official Symbol
FAM234Aprovided by HGNC
Official Full Name
family with sequence similarity 234 member Aprovided by HGNC
Primary source
HGNC:HGNC:14163
See related
Ensembl:ENSG00000167930
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
gs19; ITFG3; C16orf9
Expression
Ubiquitous expression in duodenum (RPKM 28.7), fat (RPKM 21.1) and 25 other tissues See more
Orthologs
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Genomic context

See FAM234A in Genome Data Viewer
Location:
16p13.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (234760..269963)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (284820..319962)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene LUC7 like Neighboring gene C4orf46 pseudogene 1 Neighboring gene regulator of G protein signaling 11 Neighboring gene Rho GDP dissociation inhibitor gamma Neighboring gene protein disulfide isomerase family A member 2

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

Phenotypes

Associated conditions

Description Tests
Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.
GeneReviews: Not available
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32603, DKFZp761D0211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in cell surface HDA PubMed 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein FAM234A
Names
integrin alpha FG-GAP repeat containing 3
protein ITFG3

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_001284497.2NP_001271426.1  protein FAM234A

    See identical proteins and their annotated locations for NP_001271426.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC004754, BC013047, CN262982
    Consensus CDS
    CCDS10402.1
    UniProtKB/Swiss-Prot
    Q9H0X4
    Related
    ENSP00000301678.3, ENST00000301678.7
  2. NM_032039.4NP_114428.1  protein FAM234A

    See identical proteins and their annotated locations for NP_114428.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC004754, AL136542, BC032112, CN262982
    Consensus CDS
    CCDS10402.1
    UniProtKB/Swiss-Prot
    Q9H0X4
    Related
    ENSP00000382814.3, ENST00000399932.8

RNA

  1. NR_104317.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004754, AK294581, CN262982

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    234760..269963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023761.1XP_016879250.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q9H0X4
  2. XM_006720957.1XP_006721020.1  protein FAM234A isoform X2

  3. XM_005255623.3XP_005255680.1  protein FAM234A isoform X3

  4. XM_017023765.2XP_016879254.1  protein FAM234A isoform X4

  5. XM_005255622.1XP_005255679.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_005255679.1

    UniProtKB/Swiss-Prot
    Q9H0X4
  6. XM_017023764.1XP_016879253.1  protein FAM234A isoform X3

  7. XM_011522691.1XP_011520993.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_011520993.1

    UniProtKB/Swiss-Prot
    Q9H0X4
  8. XM_017023763.2XP_016879252.1  protein FAM234A isoform X3

  9. XM_011522692.1XP_011520994.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_011520994.1

    UniProtKB/Swiss-Prot
    Q9H0X4
  10. XM_017023762.1XP_016879251.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q9H0X4
  11. XM_017023760.2XP_016879249.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q9H0X4
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