PCDHACT protocadherin alpha constant [Homo sapiens (human)] - Gene

Summary

Official Symbol: PCDHACTprovided by HGNC
Official Full Name: protocadherin alpha constantprovided by HGNC
Primary source: HGNC:HGNC:8678
See related: AllianceGenome:HGNC:8678
Gene type: other
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCDHAC
Summary: The genomic organization of the human protocadherin alpha, beta, and gamma gene clusters (PCDHA@, PCDHB@ and PCDHG@) is remarkably similar to that of immunoglobulin and T-cell receptor genes. The extracellular and transmembrane domains of each protocadherin protein are encoded by an unusually large "variable" region exon, while the intracellular domains are encoded by three small "constant" region exons located downstream from a tandem array of variable region exons. This locus represents the three exons comprising the constant region of the protocadherin alpha gene cluster. [provided by RefSeq, Jul 2008]
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Genomic context

Location:: 5q31.3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (140978949..141012344)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (141504241..141537631)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (140358534..140391929)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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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)

General gene information

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Markers

SHGC-150174 (e-PCR)
- UniSTS:177424

D5S1683E (e-PCR)
- UniSTS:151072

RH118816 (e-PCR)
- UniSTS:138797

PCDHA4_1031 (e-PCR)
- UniSTS:277562

RH91795 (e-PCR)
- UniSTS:85819

IB766 (e-PCR)
- UniSTS:42573

bac5366T (e-PCR)
- UniSTS:181623

bac5373T (e-PCR)
- UniSTS:181625

WI-19540 (e-PCR)
- UniSTS:63886

RH15971 (e-PCR)
- UniSTS:21192

D5S658 (e-PCR)
- UniSTS:82129

RH65516 (e-PCR)
- UniSTS:66009

PMC311048P1 (e-PCR)
- UniSTS:272867

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.