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FAHD2A fumarylacetoacetate hydrolase domain containing 2A [ Homo sapiens (human) ]

Gene ID: 51011, updated on 6-Sep-2022

Summary

Official Symbol
FAHD2Aprovided by HGNC
Official Full Name
fumarylacetoacetate hydrolase domain containing 2Aprovided by HGNC
Primary source
HGNC:HGNC:24252
See related
Ensembl:ENSG00000115042 AllianceGenome:HGNC:24252
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
CGI-105
Summary
Predicted to enable hydro-lyase activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 6.4), thyroid (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

See FAHD2A in Genome Data Viewer
Location:
2q11.1
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95402708..95421656)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95909190..95923098)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96068456..96082364)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel interacting protein 3 Neighboring gene Sharpr-MPRA regulatory region 3005 Neighboring gene uncharacterized LOC124907858 Neighboring gene cAMP responsive element binding protein 1 pseudogene Neighboring gene UBTF like 5 (pseudogene)

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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35661, MGC131995

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
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
fumarylacetoacetate hydrolase domain-containing protein 2A
Names
fumarylacetoacetate hydrolase domain containing 1
NP_057128.2
XP_011509585.1
XP_011509586.1
XP_011509587.1
XP_011509588.1
XP_011509589.1
XP_011509590.1
XP_011509592.1
XP_016859737.1
XP_016859739.1
XP_047300576.1
XP_047300577.1
XP_047300578.1
XP_047300579.1
XP_047300580.1
XP_047300581.1

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_016044.3NP_057128.2  fumarylacetoacetate hydrolase domain-containing protein 2A

    See identical proteins and their annotated locations for NP_057128.2

    Status: VALIDATED

    Source sequence(s)
    AA311902, AC009238, BC110911
    Consensus CDS
    CCDS2014.1
    UniProtKB/Swiss-Prot
    Q96GK7, Q9Y3B0
    UniProtKB/TrEMBL
    A0A024RE24, A0A024RE27
    Related
    ENSP00000233379.4, ENST00000233379.9
    Conserved Domains (1) summary
    COG0179
    Location:51314
    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 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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    95402708..95421656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511284.3XP_011509586.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

    See identical proteins and their annotated locations for XP_011509586.1

    Conserved Domains (2) summary
    COG0179
    Location:51284
    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_011511287.3XP_011509589.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

    See identical proteins and their annotated locations for XP_011509589.1

    Conserved Domains (2) summary
    COG0179
    Location:51284
    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
  3. XM_047444620.1XP_047300576.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

    UniProtKB/Swiss-Prot
    Q9Y3B0
    UniProtKB/TrEMBL
    A0A024RE24
    Related
    ENSP00000406424.1, ENST00000447036.5
  4. XM_011511283.3XP_011509585.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

    See identical proteins and their annotated locations for XP_011509585.1

    Conserved Domains (2) summary
    COG0179
    Location:51284
    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_011511285.3XP_011509587.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

    See identical proteins and their annotated locations for XP_011509587.1

    Conserved Domains (2) summary
    COG0179
    Location:51284
    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_011511286.3XP_011509588.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

    See identical proteins and their annotated locations for XP_011509588.1

    Conserved Domains (2) summary
    COG0179
    Location:51284
    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_047444622.1XP_047300578.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  8. XM_017004248.2XP_016859737.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

    Conserved Domains (1) summary
    cl26540
    Location:51174
    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_017004250.2XP_016859739.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

    Conserved Domains (1) summary
    cl11421
    Location:109154
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  10. XM_047444621.1XP_047300577.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  11. XM_047444623.1XP_047300579.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  12. XM_047444624.1XP_047300580.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  13. XM_047444625.1XP_047300581.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

  14. XM_011511290.3XP_011509592.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

    Conserved Domains (1) summary
    cl11421
    Location:109154
    FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family
  15. XM_011511288.3XP_011509590.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X2

    Conserved Domains (2) summary
    COG0179
    Location:51284
    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

RNA

  1. XR_007076378.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791760.1 Reference GRCh38.p14 PATCHES

    Range
    164815..178725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    95909190..95923098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)