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FAM131B family with sequence similarity 131 member B [ Homo sapiens (human) ]

Gene ID: 9715, updated on 2-Nov-2024

Summary

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Official Symbol
FAM131Bprovided by HGNC
Official Full Name
family with sequence similarity 131 member Bprovided by HGNC
Primary source
HGNC:HGNC:22202
See related
Ensembl:ENSG00000159784 MIM:619282; AllianceGenome:HGNC:22202
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
Summary
Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 25.5), endometrium (RPKM 3.7) and 1 other tissue See more
Orthologs
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Genomic context

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See FAM131B in Genome Data Viewer
Location:
7q34
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143353400..143382304, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144708830..144737731, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143050493..143079397, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene histidine triad nucleotide binding protein 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18721 Neighboring gene chloride voltage-gated channel 1 Neighboring gene Sharpr-MPRA regulatory region 4117 Neighboring gene FAM131B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:143077234-143078134 Neighboring gene FAM131B antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143088659-143089259 Neighboring gene Sharpr-MPRA regulatory region 10434 Neighboring gene Sharpr-MPRA regulatory region 2529 Neighboring gene microRNA 6892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143101922-143102436 Neighboring gene zyxin Neighboring gene EPH receptor A1 Neighboring gene EPHA1 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0773

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein FAM131B

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_001031690.3 → NP_001026860.2  protein FAM131B isoform a

    See identical proteins and their annotated locations for NP_001026860.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC093673
    Consensus CDS
    CCDS47734.1
    UniProtKB/TrEMBL
    O94871
    Related
    ENSP00000410603.2, ENST00000443739.7
    Conserved Domains (1) summary
    pfam15010
    Location:67 → 353
    FAM131; Putative cell signalling

  2. NM_001278297.2 → NP_001265226.1  protein FAM131B isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (c) lacks an alternate internal exon compared to variant a. This difference causes translation initiation at a downstream AUG and results in an isoform (c) with a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC093673
    UniProtKB/Swiss-Prot
    Q86XD5
    UniProtKB/TrEMBL
    O94871
    Conserved Domains (1) summary
    pfam15010
    Location:1 → 259
    FAM131; Putative cell signalling

  3. NM_001371248.1 → NP_001358177.1  protein FAM131B isoform d

    Status: VALIDATED

    Source sequence(s)
    AC093673
    Consensus CDS
    CCDS94222.1
    UniProtKB/TrEMBL
    O94871
    Related
    ENSP00000386568.1, ENST00000409578.5
    Conserved Domains (1) summary
    pfam15010
    Location:55 → 341
    FAM131; Putative cell signalling

  4. NM_001371249.1 → NP_001358178.1  protein FAM131B isoform e

    Status: VALIDATED

    Source sequence(s)
    AC093673
    UniProtKB/TrEMBL
    O94871
    Conserved Domains (1) summary
    pfam15010
    Location:27 → 313
    FAM131; Putative cell signalling

  5. NM_001371250.1 → NP_001358179.1  protein FAM131B isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (f), as well as variant b, encodes isoform b.
    Source sequence(s)
    AC092214, AC093673
    Consensus CDS
    CCDS5882.1
    UniProtKB/Swiss-Prot
    A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5
    UniProtKB/TrEMBL
    O94871
    Conserved Domains (1) summary
    pfam15010
    Location:39 → 325
    FAM131; Putative cell signalling

  6. NM_001371251.1 → NP_001358180.1  protein FAM131B isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (g), as well as variants h and i, encodes isoform f.
    Source sequence(s)
    AC093673
    UniProtKB/TrEMBL
    O94871
    Conserved Domains (1) summary
    pfam15010
    Location:7 → 293
    FAM131; Putative cell signalling

  7. NM_001371252.1 → NP_001358181.1  protein FAM131B isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (h), as well as variants g and i, encodes isoform f.
    Source sequence(s)
    AC093673
    UniProtKB/TrEMBL
    O94871
    Conserved Domains (1) summary
    pfam15010
    Location:7 → 293
    FAM131; Putative cell signalling

  8. NM_001371253.1 → NP_001358182.1  protein FAM131B isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (i), as well as variants g and h, encodes isoform f.
    Source sequence(s)
    AC093673, DA226407
    UniProtKB/TrEMBL
    O94871
    Conserved Domains (1) summary
    pfam15010
    Location:7 → 293
    FAM131; Putative cell signalling

  9. NM_014690.5 → NP_055505.3  protein FAM131B isoform b

    See identical proteins and their annotated locations for NP_055505.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (b) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC093673
    Consensus CDS
    CCDS5882.1
    UniProtKB/Swiss-Prot
    A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5
    UniProtKB/TrEMBL
    O94871
    Related
    ENSP00000387147.3, ENST00000409222.7
    Conserved Domains (1) summary
    pfam15010
    Location:39 → 325
    FAM131; Putative cell signalling

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    143353400..143382304 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421075.1 → XP_047277031.1  protein FAM131B isoform X1

    UniProtKB/Swiss-Prot
    A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5
    Related
    ENSP00000386984.1, ENST00000409346.5

  2. XM_047421076.1 → XP_047277032.1  protein FAM131B isoform X2

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654714.1 Reference GRCh38.p14 PATCHES

    Range
    1279..1668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    144708830..144737731 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359406.1 → XP_054215381.1  protein FAM131B isoform X1

    UniProtKB/Swiss-Prot
    A4D2H6, A6NDW3, A8K605, B8ZZN2, D3DXE3, J3KQX2, Q7L0D6, Q86T97, Q86XD5

  2. XM_054359407.1 → XP_054215382.1  protein FAM131B isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XD5.3 GenPept UniProtKB/Swiss-Prot:Q86XD5

Gene LinkOut

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