SOWAHC sosondowah ankyrin repeat domain family member C [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOWAHCprovided by HGNC
Official Full Name: sosondowah ankyrin repeat domain family member Cprovided by HGNC
Primary source: HGNC:HGNC:26149
See related: Ensembl:ENSG00000198142 AllianceGenome:HGNC:26149
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: ANKRD57; C2orf26
Orthologs: mouse all
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Genomic context

Location:: 2q13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (109614364..109618990)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (110075428..110080054)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (110371941..110376567)

Chromosome 2 - NC_000002.12 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?

Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma.
Title: Methylation‑driven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

L18426 (e-PCR)
- UniSTS:34648

G32775 (e-PCR)
- UniSTS:117355

A009L36 (e-PCR)
- UniSTS:81288

SHGC-34236 (e-PCR)
- UniSTS:69523

G42236 (e-PCR)
- UniSTS:93339

A009Q19 (e-PCR)
- UniSTS:22205

RH17449 (e-PCR)
- UniSTS:3055

G32660 (e-PCR)
- UniSTS:117242

General protein information

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Preferred Names: ankyrin repeat domain-containing protein SOWAHC

Names: ankyrin repeat domain 57; ankyrin repeat domain-containing protein 57; protein sosondowah homolog C

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)

NM_023016.4 → NP_075392.2 ankyrin repeat domain-containing protein SOWAHC

See identical proteins and their annotated locations for NP_075392.2

Status: VALIDATED

Source sequence(s)

AC011753, AK023346, AK025523, BC066772

Consensus CDS

CCDS33270.1

UniProtKB/Swiss-Prot

Q53LP3, Q8NE15, Q9H6U1

Related

ENSP00000365830.2, ENST00000356454.5

Conserved Domains (3) summary

cd00204
Location:301 → 375

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:272 → 372

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:302 → 338

ANK; ANK repeat [structural motif]