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FAHD2B fumarylacetoacetate hydrolase domain containing 2B [ Homo sapiens (human) ]

Gene ID: 151313, updated on 5-Jan-2022

Summary

Official Symbol
FAHD2Bprovided by HGNC
Official Full Name
fumarylacetoacetate hydrolase domain containing 2Bprovided by HGNC
Primary source
HGNC:HGNC:25318
See related
Ensembl:ENSG00000144199
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
Predicted to enable hydro-lyase activity. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in testis (RPKM 8.8), ovary (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

See FAHD2B in Genome Data Viewer
Location:
2q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (97080738..97094882, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97749320..97760619, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 43C, pseudogene Neighboring gene immunoglobulin kappa variable 2/OR2-2 (pseudogene) Neighboring gene glycerol-3-phosphate acyltransferase 2 pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 313, pseudogene Neighboring gene ankyrin repeat domain 36

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

General gene information

Markers

Homology

Clone Names

  • DKFZp434N062

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydro-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
fumarylacetoacetate hydrolase domain-containing protein 2B

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_001320848.2NP_001307777.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC018892
    Consensus CDS
    CCDS2030.1
    UniProtKB/Swiss-Prot
    Q6P2I3
    Related
    ENSP00000410470.2, ENST00000414820.6
    Conserved Domains (1) summary
    COG0179
    Location:58314
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
  2. NM_001320849.2NP_001307778.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC018892, AK295056, BI547630, BQ017817
    UniProtKB/TrEMBL
    B4DHE4
    Related
    ENST00000483657.1
    Conserved Domains (1) summary
    cl11421
    Location:109155
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  3. NM_199336.3NP_955368.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform a

    See identical proteins and their annotated locations for NP_955368.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC018892, BC064511, BI547630
    Consensus CDS
    CCDS2030.1
    UniProtKB/Swiss-Prot
    Q6P2I3
    Related
    ENSP00000272610.3, ENST00000272610.3
    Conserved Domains (1) summary
    COG0179
    Location:58314
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    97080738..97094882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003470.1XP_016858959.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X1

    Conserved Domains (2) summary
    COG0179
    Location:58284
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
    pfam01557
    Location:109294
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  2. XM_017003471.1XP_016858960.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X2

  3. XM_011510748.2XP_011509050.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X3

    Conserved Domains (2) summary
    COG0179
    Location:58284
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
    pfam01557
    Location:109294
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  4. XM_011510745.2XP_011509047.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X1

    See identical proteins and their annotated locations for XP_011509047.1

    Conserved Domains (2) summary
    COG0179
    Location:58284
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
    pfam01557
    Location:109294
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  5. XM_011510746.2XP_011509048.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X1

    See identical proteins and their annotated locations for XP_011509048.1

    Conserved Domains (2) summary
    COG0179
    Location:58284
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
    pfam01557
    Location:109294
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  6. XM_011510747.3XP_011509049.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X1

    See identical proteins and their annotated locations for XP_011509049.1

    Conserved Domains (2) summary
    COG0179
    Location:58284
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
    pfam01557
    Location:109294
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  7. XM_017003472.2XP_016858961.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X5

  8. XM_024452731.1XP_024308499.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X4

    Conserved Domains (1) summary
    COG0179
    Location:58314
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
  9. XM_024452730.1XP_024308498.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X4

    Conserved Domains (1) summary
    COG0179
    Location:58314
    MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
  10. XM_011510750.2XP_011509052.1  fumarylacetoacetate hydrolase domain-containing protein 2B isoform X6

    Conserved Domains (1) summary
    cl11421
    Location:109154
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

RNA

  1. XR_001738649.1 RNA Sequence

  2. XR_002959246.1 RNA Sequence

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