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FAM104B family with sequence similarity 104 member B [ Homo sapiens (human) ]

Gene ID: 90736, updated on 14-Dec-2021

Summary

Official Symbol
FAM104Bprovided by HGNC
Official Full Name
family with sequence similarity 104 member Bprovided by HGNC
Primary source
HGNC:HGNC:25085
See related
Ensembl:ENSG00000182518
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
CXorf44
Expression
Ubiquitous expression in kidney (RPKM 4.5), brain (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

See FAM104B in Genome Data Viewer
Location:
Xp11.21
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (55143102..55161185, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (55169535..55187618, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chrX.1184 Neighboring gene component of oligomeric golgi complex 1 pseudogene Neighboring gene X antigen family member 3-like Neighboring gene MT-CO1 pseudogene 52 Neighboring gene MT-ND2 pseudogene 24

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

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_001166699.2NP_001160171.1  protein FAM104B isoform 2

    See identical proteins and their annotated locations for NP_001160171.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is longer than isoform 1.
    Source sequence(s)
    BC017571, BI850888, DB216586
    Consensus CDS
    CCDS55426.1
    UniProtKB/Swiss-Prot
    Q5XKR9
    Related
    ENSP00000333394.4, ENST00000332132.8
    Conserved Domains (1) summary
    pfam15434
    Location:7115
    FAM104; Family 104
  2. NM_001166700.2NP_001160172.1  protein FAM104B isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AK311333, AK311699, BC006406, DB216586
    Consensus CDS
    CCDS55425.1
    UniProtKB/Swiss-Prot
    Q5XKR9
    Related
    ENSP00000397188.2, ENST00000425133.2
    Conserved Domains (1) summary
    pfam15434
    Location:7116
    FAM104; Family 104
  3. NM_001166701.4NP_001160173.1  protein FAM104B isoform 4

    See identical proteins and their annotated locations for NP_001160173.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is the same length as isoform 1.
    Source sequence(s)
    AL590240
    Related
    ENSP00000509111.1, ENST00000685693.1
    Conserved Domains (1) summary
    pfam15434
    Location:12115
    FAM104; Family 104
  4. NM_001166702.2NP_001160174.1  protein FAM104B isoform 5

    See identical proteins and their annotated locations for NP_001160174.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (5) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AK299935, AK311333, AK311699, AL590240, BC006406, DC413808
    Consensus CDS
    CCDS55423.1
    UniProtKB/Swiss-Prot
    Q5XKR9
    Related
    ENSP00000421161.1, ENST00000477847.6
    Conserved Domains (1) summary
    pfam15434
    Location:4112
    FAM104; Family 104
  5. NM_001166703.2NP_001160175.1  protein FAM104B isoform 6

    See identical proteins and their annotated locations for NP_001160175.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (6) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AK311333, AK311699, AL590240, BX100076
    Consensus CDS
    CCDS55422.1
    UniProtKB/Swiss-Prot
    Q5XKR9
    Related
    ENSP00000423164.1, ENST00000489298.1
    Conserved Domains (1) summary
    pfam15434
    Location:7114
    FAM104; Family 104
  6. NM_001166704.2NP_001160176.1  protein FAM104B isoform 7

    See identical proteins and their annotated locations for NP_001160176.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in the central coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (7) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK311333, AK311699, DB216586
    Consensus CDS
    CCDS55424.1
    UniProtKB/Swiss-Prot
    Q5XKR9
    Related
    ENSP00000420895.1, ENST00000472571.2
    Conserved Domains (1) summary
    pfam15434
    Location:740
    FAM104; Family 104
  7. NM_138362.4NP_612371.2  protein FAM104B isoform 1

    See identical proteins and their annotated locations for NP_612371.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BC000919, BC017571, DB216586
    Consensus CDS
    CCDS35305.2
    UniProtKB/Swiss-Prot
    Q5XKR9
    Related
    ENSP00000364101.3, ENST00000358460.8
    Conserved Domains (1) summary
    pfam15434
    Location:7114
    FAM104; Family 104

RNA

  1. NR_030722.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC000919, BC017571, CK004182, DB216586

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    55143102..55161185 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452475.1XP_024308243.1  protein FAM104B isoform X1

    Conserved Domains (1) summary
    pfam15434
    Location:23130
    FAM104; Family 104
  2. XM_017029953.1XP_016885442.1  protein FAM104B isoform X4

    Conserved Domains (1) summary
    pfam15434
    Location:9111
    FAM104; Family 104
  3. XM_024452476.1XP_024308244.1  protein FAM104B isoform X3

    Conserved Domains (1) summary
    pfam15434
    Location:4112
    FAM104; Family 104
  4. XM_017029952.1XP_016885441.1  protein FAM104B isoform X2

    Conserved Domains (1) summary
    pfam15434
    Location:17124
    FAM104; Family 104
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