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

Gene ID: 83986, updated on 6-Nov-2022

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 AllianceGenome:HGNC:14163
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
Summary
Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
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
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (234821..269963)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (228632..264793)
105.20220307 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

Phenotypes

EBI GWAS Catalog

Description
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.
EBI GWAS Catalog
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
EBI GWAS Catalog

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 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)

NEW Try the new Transcript table

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
    Q96S30, 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
    Q96S30, 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 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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    234821..269963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434744.1XP_047290700.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30
  2. XM_047434753.1XP_047290709.1  protein FAM234A isoform X3

  3. XM_047434745.1XP_047290701.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30
  4. XM_047434742.1XP_047290698.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30
  5. XM_047434747.1XP_047290703.1  protein FAM234A isoform X3

  6. XM_047434749.1XP_047290705.1  protein FAM234A isoform X2

  7. XM_047434746.1XP_047290702.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30
  8. XM_047434743.1XP_047290699.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30
  9. XM_011522691.2XP_011520993.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_011520993.1

    UniProtKB/Swiss-Prot
    Q96S30, Q9H0X4
  10. XM_047434748.1XP_047290704.1  protein FAM234A isoform X3

  11. XM_047434750.1XP_047290706.1  protein FAM234A isoform X2

  12. XM_017023761.2XP_016879250.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30, Q9H0X4
  13. XM_047434752.1XP_047290708.1  protein FAM234A isoform X3

  14. XM_047434755.1XP_047290711.1  protein FAM234A isoform X2

  15. XM_005255622.2XP_005255679.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_005255679.1

    UniProtKB/Swiss-Prot
    Q96S30, Q9H0X4
  16. XM_047434751.1XP_047290707.1  protein FAM234A isoform X3

  17. XM_017023764.2XP_016879253.1  protein FAM234A isoform X2

  18. XM_006720957.2XP_006721020.1  protein FAM234A isoform X3

  19. XM_005255623.4XP_005255680.1  protein FAM234A isoform X2

  20. XM_017023765.3XP_016879254.1  protein FAM234A isoform X4

  21. XM_017023762.2XP_016879251.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30, Q9H0X4
  22. XM_011522692.2XP_011520994.1  protein FAM234A isoform X1

    See identical proteins and their annotated locations for XP_011520994.1

    UniProtKB/Swiss-Prot
    Q96S30, Q9H0X4
  23. XM_017023763.3XP_016879252.1  protein FAM234A isoform X2

  24. XM_047434756.1XP_047290712.1  protein FAM234A isoform X2

  25. XM_017023760.3XP_016879249.1  protein FAM234A isoform X1

    UniProtKB/Swiss-Prot
    Q96S30, Q9H0X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    228632..264793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)