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PABIR1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [ Homo sapiens (human) ]

Gene ID: 116224, updated on 10-Oct-2020

Summary

Official Symbol
PABIR1provided by HGNC
Official Full Name
PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1provided by HGNC
Primary source
HGNC:HGNC:23490
See related
Ensembl:ENSG00000187866 MIM:617249
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
C9orf42; FAM122A
Orthologs

Genomic context

See PABIR1 in Genome Data Viewer
Location:
9q21.11
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (68780065..68785566)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71394964..71398609)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TMEM252 divergent transcript Neighboring gene uncharacterized LOC105376071 Neighboring gene dermatan sulfate epimerase pseudogene Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 beta Neighboring gene adaptor related protein complex 3 subunit mu 2 pseudogene Neighboring gene RNA, U6 small nuclear 820, pseudogene

Genomic regions, transcripts, and products

Phenotypes

Associated conditions

Description Tests
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC17347

General protein information

Preferred Names
protein FAM122A
Names
family with sequence similarity 122A

NCBI Reference Sequences (RefSeq)

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_138333.5NP_612206.5  protein FAM122A

    Status: VALIDATED

    Source sequence(s)
    AL354794, BC013062, BX110658
    Consensus CDS
    CCDS6623.2
    Related
    ENSP00000377807.5, ENST00000394264.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    68780065..68785566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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