IGHV1-2 immunoglobulin heavy variable 1-2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHV1-2provided by HGNC
Official Full Name: immunoglobulin heavy variable 1-2provided by HGNC
Primary source: HGNC:HGNC:5550
See related: Ensembl:ENSG00000211934 IMGT/GENE-DB:IGHV1-2; AllianceGenome:HGNC:5550
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: V35; IGHV12
Summary: Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex, circulating. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: partial on reference assembly
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Genomic context

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105986582..105987019, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (100257669..100258106, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106452669..106453106, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18069 (e-PCR)
- UniSTS:9224

GDB:180978 (e-PCR)
- UniSTS:155154

BZ900741 (e-PCR)
- UniSTS:476760

PMC19472P1 (e-PCR)
- UniSTS:271775

PMC19472P2 (e-PCR)
- UniSTS:271776

PMC19472P3 (e-PCR)
- UniSTS:271777

RH98683 (e-PCR)
- UniSTS:90042

PMC21601P1 (e-PCR)
- UniSTS:272062

SGC33974 (e-PCR)
- UniSTS:59841

RH25348 (e-PCR)
- UniSTS:14794

G19448 (e-PCR)
- UniSTS:33011

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.