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PTCHD4 patched domain containing 4 [ Homo sapiens (human) ]

Gene ID: 442213, updated on 11-Sep-2019

Summary

Official Symbol
PTCHD4provided by HGNC
Official Full Name
patched domain containing 4provided by HGNC
Primary source
HGNC:HGNC:21345
See related
Ensembl:ENSG00000244694 MIM:616908
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
PTCH53; C6orf138; dJ402H5.2
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PTCHD4 in Genome Data Viewer
Location:
6p12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (47858598..48111132, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (47845157..48036425, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene opsin 5 Neighboring gene RNA, U1 small nuclear 105, pseudogene Neighboring gene uncharacterized LOC107986601 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 4 Neighboring gene RBMX pseudogene 1

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ41841

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
patched domain-containing protein 4
Names
p53-regulated patched protein
patched domain-containing protein C6orf138

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_001013732.3NP_001013754.3  patched domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_001013754.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
    Source sequence(s)
    AK299301, AL161622, BC137359, KF458157
    Consensus CDS
    CCDS34473.2
    UniProtKB/Swiss-Prot
    Q6ZW05
    Related
    ENSP00000341914.4, ENST00000339488.8
    Conserved Domains (2) summary
    pfam02460
    Location:148812
    Patched; Patched family
    cl21543
    Location:257408
    MMPL; MMPL family
  2. NM_207499.2NP_997382.2  patched domain-containing protein 4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AK123835, AK299301, AL161622
    UniProtKB/Swiss-Prot
    Q6ZW05
    Related
    ENSP00000381722.2, ENST00000398738.2
    Conserved Domains (1) summary
    cl21543
    Location:257307
    MMPL; MMPL family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    47858598..48111132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010893.1XP_016866382.1  patched domain-containing protein 4 isoform X3

    UniProtKB/Swiss-Prot
    Q6ZW05
    Conserved Domains (2) summary
    pfam02460
    Location:145809
    Patched; Patched family
    cl21543
    Location:254405
    MMPL; MMPL family
  2. XM_017010892.1XP_016866381.1  patched domain-containing protein 4 isoform X2

    Conserved Domains (2) summary
    pfam02460
    Location:138867
    Patched; Patched family
    cl21543
    Location:312463
    MMPL; MMPL family
  3. XM_011514639.2XP_011512941.1  patched domain-containing protein 4 isoform X4

    UniProtKB/Swiss-Prot
    Q6ZW05
    Conserved Domains (2) summary
    pfam02460
    Location:1559
    Patched; Patched family
    cl21543
    Location:4155
    MMPL; MMPL family
  4. XM_017010891.1XP_016866380.1  patched domain-containing protein 4 isoform X1

  5. XM_017010895.1XP_016866384.1  patched domain-containing protein 4 isoform X5

  6. XM_017010894.1XP_016866383.1  patched domain-containing protein 4 isoform X5

  7. XM_017010896.1XP_016866385.1  patched domain-containing protein 4 isoform X6

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